Hello my son is in the process of being diagnosed with dvm although we have not seen the specialist yet to rule out anything more serious i was just wondering if anyone else is going through the same thing or has done already and got any suggestions for ways to help him. hes 2mths 1week. it seems to be such a waiting game!

hi hun not sure what advice I can give you or what you are after but if I can help I will. :)

I have 3 girls ((Lucy 4, Jessica 2 & kate 1)) and alex 10 days old who all have DVM ((except Lucy)) aswell as other eye problems.
Do you know if he has any other eye problems/conditions yet? And are they refering you?
Ask for a visual impairment teacher ((vista)) they are fantastic loads of info on how to help and encourage your boy.

The best way to encourage him is bright coulourful toys, black and white stripes, play therapy, stimulation through touch for example we use a big cardboard box on one side we stick bubble wrap, we use cotton wool, dvd's old ones of course ((reflects light and colour)) stick them on the side & anything ele you can find to get them to feel & touch ((can't remeber the last on lol)) put a soft blanket on the bottom and put them in to touch and feel around my lo's love it.
Also bobby knockers ((they light up and are like a disco balls and spin but don't make any noise so they follow the colour & not any noise))
errrm thats all I can think of at the moment but if you have any q's or just need to chat were all here take care xxx

space blanket :lol:
thats the one I couldn't think of, its used by space shuttles it's like tin foil but can't be ripped we got ours off our vista fantastic they are reflect and to touch them it's like tin foil lol hope it helps xx

wow, what a good idea, thanks.i love the box idea but would you say 2 months is too early to try that or the sooner the better, i know we are meant to be stimulating him more than a 'seeing' child to get his eyes working. i have not been told about any other eye problems as i am only in the beginning of finding out. i don't really understand much about it, it hasn't been something my husband or my family have heard of before - do you know if it's pot luck or is there more to it than that? he's seen 2xdr and consultant and they've referred him saying dvm is what they think it is. I know you said your children had additional eye problems but are they able to see better now, i have been reading on sites that they usually get their sight by 6-9 months and it delays all other parts of growing like crawling, walking, talking, did you find this? i am sorry to blast so many questions at you but it's so nice to find someone who can actually relate to it and not just give medical jargon. thank you

oooh another qn, sorry! the VISTA is that someone for later on or something i could ask about now?

oh ask to be seen by vista now, they have loads of info they have support groups and children with the same conditions and they are trained so know what will be best stimulating him and what will work and won't work for him they really are fantastic I can't praise my vista enough :lol:
And start the box and stimulation now, sooner the better.
Alex is only 11 days old but I've started stimulating him already. And my vista have already added him to the books ((it's a joke I said he'd be born blind and to add him to their list while they were trying to be optimistic that he wouldn't be-I won ))
I'm not to sure if it's pot luck for us it's genetic for you as you have no family history it may just be pot luck.
But dad ((my partner andy)) has the same problems and is registared blind and so are the 3 youngest but it's not just the DVM they have several problems aswell.
Yes by 6-9 months and it does delay walking, talking crawling but they do catch up very quickly and doesn't affect them throughout the childhood it's almost like a light is switched on and they start to do all the things they should have done but it happens all at once ((in my experiance, for example Jessica had no sight till she was 9 mths and now can see a meter away from the end of her nose but that is caused by her other eye sight problems not just the DVM))
don't worry about the q's ask away if I can help with advice I will hun it always easier when someone else has some sort of experiance to what you are going through as a family.

have you noticed anything else about his eyes? as in are they different to you do they move differently?

anyway hope your ok and you lo is ok too xx

thank you, well we have finally been given the specialist appoinment for next monday 18th, am dreading it but at least some of the waiting will be over. All i've really noticed about his eyes are that they don't seem to focus on anything, he certainly appears to look around him but at nothing and never stops on anything of interest. When a room is too bright he will squint and his pupils do react to light although don't follow it. The eyes seem to move in sync which i think is a good thing and he appears to have tear ducts. he has brown eyes which apparently makes it harder to tell (dr said) but it sounds so silly sometimes i feel like i am looking into 'dead' eyes or he'll give me 'the evil' (which maybe all babies do, this is my 1st) and occasionally i feel like although they are brown they aren't properly, if that makes sense! it's like some lack in colour and i am pretty sure that is a sign of blindness as i've seen it in blue eyes before but i may be looking too closely or over reacting. Hopefully the specialist will be able to clear up some of my queries anyway, but i've read that even if he is diagnosed with dvm you still have to wait the 6 months for a review to see if they were right!
It must have been wonderful for you when you realised that jessica could see something and i hope that alex will be following close behind, as for the children it must be good for them to see their father can live with it, he must be great with them. I hope that if it comes to it i can make sure zachariah never feels like he's missed out and be a confident little boy myself aswell.

Good luck with your lot, next time i see the health visitor i will be asking about the vista, am now running around looking for a big box to cover and going to grab a load of those internet trial cds! thank you

oh and i tried to look up bobby knockers on ebay but couldn't find them, are they the black ones with coloured lights on? i think i will be getting a disco ball as well though as i'm sure the mirror effect will do something! thanks again.

Hi, sorry to butt in. Did you get any results from the specialist? Hope was good news. My baby boy is in the process of having tests for his eye sight, he's 4 months old. I'm hoping and praying sooo hard its dvm!

hello,no problem, ... actually no we are still in the process of waiting for an 'official' diagnosis, he was meant to have an mri scan last week but we were messed about so i'm waiting to hear when we can go again. i'm so sorry you're having to go through this too, it is incredibly frustrating isn't it. you seem to keep having to wait for one thing or another making it very hard to deal with possibilities, like you i am hoping it is dvm but as each month passes i worry more and more. has your son only just started having tests? we first noticed problems with zachariah at around 6 weeks, he's now almost 6months (june 3rd) he doesn't appear to fix on anything although sometimes responds to light. we waited 4 months for a smile, heartbreaking but so beautiful when he did it. i dont know how far into everything you are, i'd imagine at 4 months you've already got a lot of information, but i'll say it anyway, as difficult as it is, keep trying toys in front of him as one day you may find a reaction, we do get more response now but nothing drastic and you always worrythat it's just wishful thinking.what tests is/has he having/had? we've seen opthomologist who did the drops and says all should be working, and been for follow up to check progression, and as i said we're now waiting on an mri. if you ever want to chat feel free i'm on here quite a lot and have no problems talking about it, or just listening if you want to babble. keeping my fingers crossed for you and your little boy

Thanks so much. I suppose i first started to notice something wasn't right when Leo was about 6 weeks. Interesting you said you had to wait for a smile because he smiled at 5 weeks but only ever looking to one side or the other, never at my face.We've been to an opthomologist too, she said all the parts of his eye's look normal but his pupil reaction is sluggish. We've also had the dreaded mri, which luckily came back normal. Having the mri is horrible because they have to be under general anaestetic (sorry, spelling...), but as with all these things, its worth it and within an hour or so he was fine. Leo seems to react to light, and in a darkened room seems to be able to see a cell phone light. Like you said though, it could be wishful thinking. There's so many other things the doctors say it could be, i'm hoping as i'm sure you are its not Lebers. At first i was devestated and i'm still struggling but i've come to the point where i know whatever happens i'll do the best i can and know i'll do anything to make Leo happy and lead a fulfilling life. It's nice (or not, if you know what i mean?) to know there are others out there going through the same thing. I hope we both have good news soon. Next wednesday Leo's having an ERG so i'm hoping that comes back normal, although im trying to be realistic. Good luck, and let me know, when you know more!

thank you. no, i agree, it's awful to think someone else is going through it but at the same time nice to find someone you can talk to or compare notes, especially when it is a rare thing, it makes it near impossible to find anyone and even the professionals can't really point you in any direction. from what you've said they sound quite similar, he's a real cutie by the way

Well the smile sounds like a good thing it would suggest he's copied it from someone, it was the fact he wouldn't smile combined with the fixation that actually got us looked at in the first place. Does leo copy any expressions or anything? Zachariah has been pretty blank up until now although he does smile now allowing us to really know when he's enjoying himself.
Lights have to be pretty bright to get a reaction, for instance he'll screw up his eyes if the sun is really bright, but wont necessarily see a light in the house unless it's pretty dark to begin with. However in the last few weeks he does appear to be more aware of the lights which is great. And we've even got him following it a few times but still not much luck with anything else. When we had the opth appt he said his eyes appeared normal and there was no mention of sluggish pupils, his optic nerves were meant to be intact but other than that we weren't really told what the other possibilities could be, lebers has never been mentioned but i just looked that up and it says its hereditary, we don't actually have any family history of eye problems which makes it all the more difficult to comprehend. you said leo always looked to either side but never at the face, this is just like zachariah he nearly always looks to the left, even if he moves his head to the right. like you i find it hard to deal with, esp when you hear stories of other mums and their little ones hiding from mirrors or pulling faces etc but i am determined to do the best i can for him and make sure he never feels he's missed out, he really has turned into quite a character now, i do believe what ever happens for a child it is always better to begin with nothing because they can't feel they're missing out, imagine if we were talking about 5 yr olds who'd suddenly lost their sight! it certainly allows you to put your creative thinking cap on when it comes to games doesn't it.
good luck with the erg, and just getting on with it all in general

Hi there, i'm not sure if Leo copies any expressions, i don't think so. He does babble and laugh alot. Does Zachariah (lovely name by the way!) seem to swipe at stuff? When i put Leo on his play gym he swipes, mainly with his left hand, at the giraffe. He also seems to react to light in the same way that you mentioned, although i said this to the opth and she said this could be a natural reaction or something. Sometimes his eyes seem to squint as if trying to focus, but again she said this could be his brain 'trying' to see?? So as you can see she's not that positive! Lebers Congenital Amaurosis is different to the other lebers and is not hereditory. Apparently this is the most common cause of infant blindness, but neither of us want that. We are the same, as neither of us have a family history of blindness or anything so it came as a major shock! Its just not one of those things you worry about. Its amazing all the things you do worry about, like cot death etc and then something like this happens. The week before i went to the paed i had joined a mum's and babes group. I thought about not going back but for Leo's sake i did, and although its hard to see all the other babies looking at stuff, i feel i cant hold Leo back in all the other areas, and it cant hurt to try and stimulate his vision. When is your mri? Hope all goes well.

Hannah

the original mri was 20/5 but i am now waiting to hear when they retest him, i will actually phone at the beginning of the week as i will be so upset if i have to go back on the 6week waiting list! i agree all through pregnancy you're told about downs, cerebal palsy etc and although i don't think it makes it in any way easier you do know that there's a chance, whereas i really took for granted that my baby would see, it never even occured to me that he wouldn't! he's my first, is leo your 1st?
in the early days zachariah would wave his arms around a lot although if i'm honest i really don't think he was reaching out for anything it was just new baby movements. he's not really interested in toys, mobiles etc although now he tends to look for them with his hand to shove in his mouth as he's teething.
i just looked up the lebers you mentioned and it mentions nystagmus, does leo have wobbly eyes, zachariahs don't seem to have any unusual (?) movement.
i'm glad youve found a mother and baby group i'd imagine although difficult it will really help, i have yet to find one i enjoy, we tried musical minis as i thought one with noise would be good but i think it was just too much for him. i also never know what to say when people try to catch his eye, i'm not quite ready to tell the world as it's hard to explain when i don't even know what it is myself. my husband however is taking it much worse than me and in the beginning would just shut himself away.
he's also an incredibly fussy baby which they say is related to lack of sight and hates the bath.

do you have a vision assistant teacher who comes to you? they do say it is important to try and stimulate the baby as i think if you don't they end up not trying to make their eyes work (if poss) so you sort of have to give it a go, not quite so much fun when there's no reaction i know.
i just thought, i don't know how you feel about writing so much on here, i don't mind but if you'd rather i've just made up an email account so youre welcome to type there if you'd rather
waiting4babyz@aol.com

good luc with all

Hey,
I don't mind writing on here but thanks for the email.
I live in South Africa (i am from England, but moved here 4 years ago with my family), which there's some positive and negatives to, like we got the mri the day after it was requested, but there isnt much support, we haven't been told about a vision assistant teacher.
Leo is my first, i'm 22 and people keep saying im so young for this to happen but i guess its the luck of the draw.
I know excactly what you mean when people talk and play with him i suppose i just hope they dont look long enough to notice. Leo doesn't have nystagmus i don't think, he just looks like he's looking around the room. From when he was born we made a joke that he is just very nosy.
My boyfriend is a 'fixer' so he just says, he'll be fine and is overly positive. Leo loves to bath, dont know why i just suppose because we dont really know what to look for we read into everything.
I do try and stimulate his eyes by playing with him and putting him on his play gym. Like i said about the swiping, im not sure if he can see the toy or its just become habit and he knows where the giraffe is? I think Leo's head is a bit floppy, he can hold it but you can see its a bit of a struggle, also when on his tummy he doesnt really push up on his arms, i guess this is because he doesnt have the motivation of looking for stuff, is Zachariah the same?

i'm 27, my oh is actually from egypt. i had thought you seemed to be getting through the tests faster than we were. to be honest the vision teacher is great to have for asking questions but they dont really do anything you cant do yourself. IF it is dvm they say the first things they will notice are lights and shiny things like tinsel, mirrors or cds, also black and white. we actually got a mini disco ball which has been great its striped in colour, reflects and occassionally he gets the glimmers of light all over his face, it was the first thing we got a real response from.you also have to do everything quite slowly, the first thing to happen will be they fix and then gradualy follow, but not smoothely. without knowing much about sight it is difficult because you wonder if its just they sense it or their hearing is so acute they hear it. i've heard its meant to be like a light switch and if dvm one day he'll just see (6-9mth). zachariah looks like he is looking around the room too, i think a way they check for the nystagmus is if you swing him around (they sat on swivel chair with him) and then stop, if his eyes stop it's a good thing and if they wobble or keep moving its not quite so good. (dont know more about it though sorry)
floppy head.... well zachariah actually hates tummy time so it's not a great thing to judge but he certainly isn't great and i think it is a lack of motivation, i was told to put toys with lights next to him to help. he certainly doen't push up much but if he's propped on my lap say there's more of an attempt to push up. even when sitting his head does tend to drop more than i think it should but i'm not too sure as i have noone to compare it to. i tend to blow in his hair as that gets his attention. if he fusses a lot on his own, music is meant to be a great help and also you need to be more pushy with toys in hands, you've got to let him feel them and try to get him to grasp them as because he's not seeing there wont be an interest, but you've got to help develop those muscles etc i've also heard brushing lots of different textures across their bodies/face/hands and feet are good as they are learning all the time

Thanks for all the tips, i will try them. I do play with Leo alot, and he impresses me all the time. Im staying hopeful and positive. Im nervous about the ERG but i guess i just want to do it now, so we can take the next step. It must be very stressful having to wait so long for tests in the uk.
Leo is so normal in every other way, its hard to imagine something could be seriously wrong, i guess i just keep expecting the doctor to turn around and say oops we were wrong he's fine!

good luck with the erg tomorrow, like you said it really is worth it because you may get some answers. not that it makes it any easier! I know what you mean about being hard to take in, zachariah is just the same you wouldn't know anything was wrong unless you actually knew what you were looking for and even then you'd need to be pretty observant. you may find whatever leo has can be reversed or it is dvm in which case it's just a waiting game. i really hope everything goes ok for you and keep strong, i'd love to hear how you get on. thinking of you

ERG went well, still waiting for results but from what ic ould tell, it doesn't seem that Leo is blind or have Lebers congenital amaurosis. Thats good news. Have you been booked for an ERG because apparently its the only test that can really diagnose most vision problems/diseases. Any news on the MRI?
Hope you are well

oh that sounds like fantastic news , i'm so pleased and hope you get some answers soon. is your dr leaning more towards dvm now.
unfortunately we are getting really messed around with the mri as the drs dont seem to be communicating very well with each other, but i am hoping to hear by the middle of this week, i will ask about erg too so thanks for that. good luck with all


[Modified by: waiting4baby on June 01, 2008 12:16 PM]

Well the not so good news is that i don't think the ERG will come back normal either from what i can see so that kind of rules out dvm which is a bummer. Still hopeful for something positive soon. I hope you get some good news asap and get to stop waiting!

thanks. oh im so sorry, but with any luck anything that does show up is something that can be fixed, and at least once you do find out what the problem is you can then start looking at ways to resolve it or deal with it rather than still be wondering, hmmm is it this/that/ the other! presumably the reason they would come back not normal will be due to the sluggish pupil.
we are STILL waiting to hear when the tests will be i am becoming more and more frustrated, but i think the dr just sees it as a waiting game anyway so not too fussed aaaarrrggh! really hope you get some good news, good luck thinking of you both

I have a 3 month 1 week little boy. Who I think has DVM.

We are at the early stages of all the tests. So far his general development is fine, his pupils react well and his retina and optic nerve look fine.

More tests next week. He normally looks to the side and he is certainly way behind schedule with his vision. The good thing is that he can follow black and white toys intermittently. I hope this means that everything will be all right in the end.

hello finn3 everything you say sounds like its good and the fact that he can already follow black and white toys sounds briliant, my lo couldn't follow anything until about a month ago(now 6months) and even now i dont know if he really is or its shadows/sense/sound or something. have the specialists given any idea as to what they think it is? we were told quite early on that they think its dvm and i know the fact he has his optic nerves intact means that there is hope of him seeing something. was he premature, it's meant to be quite common in prem babies (my lo was full term) i am sure what ever the outcome of the tests your little boy will be fine, good luck and please let us know how you get on, your welcome to chat or if you think i could answer any questions i'm happy to try. good luck and thinking of you both

Hi,
Some bad news is that we have the preliminary results of the ERG. One eye's ERG response was absent and the other was considered normal. Although this doesn't mean he can see (complicated even for me, i know). They think it is Lebers Congenital Amaurosis, which means he is blind. There's alot of research and trials going on at the moment on the condition so i'm hopeful for that but i'm also trying to be realistic and concentrate on making life as normal and fullfilling for Leo as possible.
Hope all is well with you waiting4baby
Good luck Finn, I'm sure all will be fine and for all of us whatever happens we will have confidence in our parenting and love for our gorgeous babies.

oh i am so sorry, you must be devistated, is there no way it could be he is just blind in one eye? i'm sorry i dont know much about lebers as it wasnt something ive felt i needed to research yet so i'm not entirely sure what it means but i will try and get to understand it now. you do have a gorgeous baby though and you sound like youre a mum with your head screwed on and so i am sure whatever the final outcome your boy will turn out to be a well loved, confident and happy little boy. Although it may turn out our boys are on different paths, if you would like, i would love to keep in touch with you and we can give each other strength, understanding and maybe even ideas for things we've found that they enjoy, up to you. we are still waiting on news for his next scan but i have been told it should be before the 7thjuly which is when we next see the orthoptics so hopefully wont be much longer now and with any luck it will work this time. although i am in 2 minds about whether we try sedation again or use general aneasthetic. i really hope that you are doing ok and getting any support you need out there, thinking of you all and good luck.

Thanks,i think i've had long enough to prepare myself and although i was hoping for better news, i am able to deal with the outcome. We're going to a opthomologist who has more pediatric experience on monday for a 2nd opinion and am planning a trip to the UK to go to Moorfields. Our opth says she could be wrong and asked us to do the tests with another doc to be sure. About your MRI, Leo has now had a general and been sedated, and i would definately choose sedation if i had to do it again. Although when Leo was sedated it was only a light dose and he ate just before. As you saif the worst bit is having to starve them. Let me know how it all goes, and i would love to stay in touch.

Hi ladies hope you don't mind me butting in :)

Hi leo's mummy, just wanted to say I'm sorry you have not had the results you may have been expecting and I'm glad that they have said they want you to get a second opinion. That's postive news :)

Also try not to worry ((easier said thean done I know lol)) Jessica/katie & alex plus their daddy have it with nystagmus ((we didn't know at first due to nystagmus)) also retinal degenerative disease known as retinitis pigmentosa & astigmatism ((plus more)) and there all fantastic, sensitive to light and although we mainly I lol have had some teething problems such as removing doors in the house as they walk into them putting adaptions on for the stairs and bathroom.
Were getting there as a family and everything has just worked if that makes any sense?
Andy has also always worked since leaving school which I must admit I was worried about for our children not having a 'full' life but knowing him I know they can do anything they want to do and so can leo and zachariah :)

I know I'm banging on with myself but try not to worry till your 2nd opinion and also just remember it's not the end of the world ((I felt like it was after having Jessica)) he's lovely and gorgeous and you will get through it I sometimes forget they even have any problems have the time as they are soo independant.
Hope your well and take care ladies x

Thanks Joanne for the support and advice. Luckily i feel i've had enough time to deal and its made easier to deal with because i just love him so much. Its hard and i think before something like this you don't believe you would be able to handle it, but you just do! Because you have no choice but make the best out of it.
Thanks again, good luck with your lot! They sound wonderfull.
x

like joanne said i'm glad they're getting you to have a 2nd opinion although i am sorry it means dragging it out a little longer. thanks for the opinion on sedation and general aen. i think i'll try and go for another sedation i'm just worried if he wakes up again that means we'll have to go through it for a 3rd time and still none the wiser, is it the side effects that make it so bad?.
good luck with everything and i hope youre able to get the 2nd opinion done sooner rather than later, i've read up on it a bit and it does say some children can see slightly but sort of counting fingers or light and its not something that gets worse just stays the same dont know if thats right but if one of leos eyes read normal you may find there is some sort of vision. keeping my fingers crossed for you all, and you're right love makes anything possible

Hi. My son is 4 1/2 months. At around 6 weeks we noticed that he doesn't follow objects with his eyes and that we couldn't get eye contact. Investigation has now started; we've been twice to the eye doctor and my sons eyes seem normal so far. Next step is to do ERG, in three weeks. I so much hope that this is DVM and that my son all of a sudden will start seeing. As you all know it is hard not knowing whats wrong, and having to wait and wait.

hi cjk, i'm sorry you are another one just waiting to discover the outcome of your little boy. its good that you are well under way with the tests, i have to say i am getting increasingly worried that my son at 6months is still so early on in the testing and not even had an erg suggested yet we have been seen since he was 8weeks! it is extremely hard to have all this waiting and impossible to get your head around when you dont really know what you are having to deal with, but if i say so myself i think we are all doing brilliantly and if your boy is anything like mine i bet he is quite a character even with this small set back. i really hope things are going well for you and as i've said to the others if you want to chat or just want someone to listen, feel free, thinking of you both and good luck

Leo's mum

So sorry to hear your news. But I think your attitude is the right one. All you can do is love them and be the best parent you can. You'll get plenty back.

Your child will grow up in an era of techological advancement that will at the minimum make their life easier and at best may provide a cure. Moorfields is the place to go they are doing amazing things.

I work in radio and some of my collegues have severe vision problems but it hasn't stopped them reaching the top of their professions and travelling the world.

We believe that Finn has at least some vision and there are no signs of nystagmus. But sometimes there is nothing going on and you wonder if you are fooling yourself. Whatever happens it will be OK in the end.

Richard

i am feeling so frustrated zachariahs original scan was 20/5 and it didnt work, his next specialist appt is 7/7 and i've had to pester them for the last few weeks to get a new mri date, theyve said 31/7 which is ridiculous, it means he will be almost 8 months before they start doing any tests and to top it all the specialist appt will be put back so its after the scan. i cant believe how uncaring the medical team are being, i've already had hope dangled in front of me for the last 6mths i cant cope with another 2 i just want answers now! aaaarrrggh, sorry just needed to get that off my chest.
hows it going with everyone else? leos mummy have you been given any news on your trip to moorfields yet?

We saw a Moorfields specialist this week. He confirmed that Finn can follow toys. He is longsighted at the moment. They think it is DVM and want us to come back in 3 months. It is quite encouraging. But it is basically still wait and see if he improves. I will try and continue to post what happens to Finn in the next few months if only for people who google DVM in the future.

Wow Finn thats great news, you must be so relieved.
No news really, 2nd opinion said all that we already knew really. It seems this condition is so rare that doctors here don't know anything about it. My paed had never even heard of it! Even though its apparently the most common cause of congenital blindness...?? The opth is contacting moorfields for us and we are planning genetic testing so we can confirm the diagnosis and find out which strain he has. Hopefully he has the one that they are doing trials on at the moment.
Waiting4baby i cant belive how you've been messed about, its disgusting how its being handled. You really should complain or write to someone else in the know.
Good luck to you all

Hi. Thinking of you all. Let's try to keep our hopes up. I'm so glad I've found this forum. As you all know, DVM, Leber's and whatever else seem very rare and almost nobody seem to have heard about it. I live in Sweden by the way.

Our son is now almost 5 months. During his first 2 months he looked to the side intensely, either to his right or to his left, and this made me uncomfortable. I wanted him to "snap out of it". After a few months he started moving his eyes more normally, looking around although without seeing. But every now and then he get's cross eyed or squints and one of the eyes wander away. And then, all of a sudden, the eyes move in sync again.

Motorically my son seems to keep up well; he can roll over from his back to his stomach and he grasps toys and tries to pull himself up. He smiles when he notices that we are around, but he doesnt turn his head in our direction. He makes happy noises, "talks" and he seems content, not frustrated and uncomfortable.

CJK, i have to say your little one sounds EXACTLY the same as Leo. When was he born? Leo was born 21st January. All the things you say he does, so does Leo and this if anything just prooves that whatever the outcome, they will be OK!

Leo's Mummy - my son was born on January 22, two weeks before due date. Was Leo full-term?

Wow, so close, Leo was born at 23:43 so they nearly share a bday. He was a week late!

Hi all. Yesterday we went to see a new eye doctor who seemed to be specialized in DVM. He held up a white cardboard plate with a happy face in black, in front of my son's eyes, and said that he seemed to follow this object with his eyes, although slowly.

After that they did something I think is called Visual Evoked Response (VER, also called a Visual Evoked Potential, VEP, to ensure that the visual pathways were working. They put electrodes on the back of my son's head and measured the electrical signals that went from the eye to the brain and back. The doctor said that my son seems to have the vision of a 2 month old infant, and that we should come back in a month again to see if his vision has improved by then. I don't know yet if we should do other tests as well, the doctor said he would look into this and let us know whether he thinks this would be necessary. Otherwise we just have to wait and wait. As usual. But now we really got our hopes up :-)

The doctor said that there are three categories of children with DVM: children with just DVM, children with DVM and other vision problems, children with DVM and other functional disabilities. "I think your son has just DVM. I have been wrong before but usually I am right about this".

Good good news. Now we can hope for the best.

Im really really hapy for you, sounds very positive! Keep us updated :-)

So I spoke to a professor at Moorfields about Leo, he says that if the ERG results are not symetrical then it cant be Lebers, so now we're back to the unknown..! My opth says they just dont know what else it could be so now all i can do is wait for Leo's passport and bring him to England.

Also, this morning im positive Leo was following my mum's hand, so i used a toy to move backwards and forwards in front of him without making a noise and he was following it (slowly, but definately following!), i was amazed because he's never even looked like he's looking at stuff. Im hopeful but don't want to get my hopes up to be dissapointed.

hello everyone, sorry i've been off for a while, CJK it sounds really hopeful with your son and i hope he continues to progress during the time you wait to have your follow up, it all sounds good and like leo's mummy said it sounds quite a bit like my zachariah too.
leos mummy i am so sorry you are back into the world of the unknown but with any luck this will only bring good news and you may find he's a lot better than your opth in s.africa thinks. And the fact he's begnning to track sounds fantastic keep it uup, am really pleased for you

Zachariah managed to get an mri spot yesterday (yay!) there was a cancellation so we jumped at the chance, it was awful as he did have a general but has recovered well and i'm really hoping that come 7/7 when we see the specialist he will be able to give us some answers and with any luck no more tests will be needed. i'm still staying hopeful but its so confusing trying to work out whether they're really really looking isn't it.

keeping my fingers crossed for all of you, good luck and happy progressing

Its all so confusing like you said, like today he doesn't seem to follow. Its all so up and down.

i know its like that with us too, some days i would really think he was looking and other days its just like hes not interested, i wonder if it's to do with how tired they are or colour or sound, a brighter day, or maybe it just takes a while for them to really take in what they are meant to be doing...its such a shame that the professionals cant just take one look and just know what it is, but with any luck it will be that our los are beginning to see and its not sound and shadows etc. hope leo's passport comes through soon and you can start getting into the british system for more information. thinking of you all

Thanks, you too.
Where do you live, have you been to Moorfields yet?
What is your gut feeling about all this with Zachariah? Can he follow light at all? Have you heard any more about having an ERG, or do you get the impression they dont feel that necassary? Hope you're all well.

we're actually with university hospital of wales so no moorfields for us i dont think. he does seem to follow light sometimes but if i close my eyes and wave a hand in front of it i see shadow myself so maybe it's just that?!
my gut feeling about zachariah is i really dont know, some days i think theres no way he can see and i think he must be blind, but seeing as there is nothing wrong with his eyes when opth looked into them i can only assume some form of brain damage, (we did actually have a traumatic birth and he got stuck so i wonder if thats linked, he was also resuccitated so lack of oxygen to brain).... other days i think he's definitely starting to look but i am scared to get my hopes up so worry it may just be sound or 6th sense or whatever you want to call it.

i'm just really hoping that when we see the opth next time around they are going to have an eureka moment!
my oh keeps saying he just wants him to be ok and i keep saying he is ok and always will be it just happens he's been unfortunate with his eyes and with any luck it can be fixed. he is an incredibly happy boy to be honest but blooming confusing to work out!
have you got any gut feeling then or are you as stumped as us?
thinking of you all hope we all get some good news soon

I feel very similar to you, its up and down. It all just seems to have come from nowhere, and i keep feeling like im going to wake up. I keep hopeful but at the end of the day you cant hide from the fact that your child just cant see. Today my mumthought he was staring at her top, which was black and white patterns but which just say 'who knows' because we dont want to get our hopes up. Now i just want someone to tell me what it is, 100%, so i can get on and see what i can do about it! I feel for you so much, having to wait so long for results and appointments. It must be terrible having to wait for the mri results knowing that soemone has probably looked at them and knows before you do! I felt that about the ERG. Thinking of you, and i know whatever happens we'll be great mum's, to our lovely little boys.

you know aside from the one lazy pupil leo has(but we've not had erg, i'm going to ask at appt) they sound so alike, my mum had also thought zachariah was staring at her top, black and white striped top but again all we really do now is shrug our shoulders and wait and see.
i do wish the moment someone knows what the scan means they could just phone us and say come in, its a shame it doesnt work that way really, but i'm so grateful that he had the scan 2months earlier than originally expected that i am coping with the wait, so far!
i also just want to know, i hope to god he can see but at the same time i love him either way and i just want us to get on with our lives without questioning his every move, and, like you said get on with it in whatever way we can thats best for him. i am very determined to bring zachariah up in a way that he never feels hes missed out on anything and give him every opportunity i possibly can, we will be great mums because we love our sons and whatever happens i think we are prepared emotionally!
thinking of you , it must be hard for you waiting to come to uk too, are you still waiting for the passport?

Yes still waiting... it was a bit of a mission because he needed a full birth certificate so we could apply and this country has major problems at the home affairs, everything takes so long. I think i should have everything by the middle august, so probably be there beginning september. Are you on facebook?

September, oh no you must really be willing time to fly by. with any luck you'll see some development yourself by then as he'll have progressed another couple of months and they do say the tests are more accurate from 7mth + i read it somewhere. not that it helps with the waiting game though.
i dont have facebook at the minute but am looking into setting up an account as so many people are on it now i think im a bit of an odd one out heehee!
well really hope that there isnt such a long wait for the passport, or at least that it doesnt feel like a long wait. i assume youre seeing moorfields as private patients so with any luck you wont have to deal with long waiting lists etc once you are here. good luck with it all

Oh no! I'm going through the NHS. Thats one of the main reasons im coming over, privately there im sure it would cost a bomb! So when i come over i have to first register with a GP who has to refer us, whos knows how long i'll be over! Im also going to try and hurry along the passport, by writing a letter explaining the situation. Hope you're doing ok, and coping also with the waiting. What is Zachariah upto? Leo has just started lifting his head when on his tummy, and can sit in his bumbo seat which im really happy about.

oh right! oh no! well with any luck you wont have too much waiting to do here as leo will be older so there is no way they would say there wasnt some sort of problem, will you be staying with family, at least it will give you a good chance to catch up with people. writing a letter sounds like a good idea, its certainly worth a try.
Zachariah is doing fine thank you, he has learnt to roll now but only back to front , i never bought a bumbo but he does love to sit just cant do it on his own yet, i actually put him in a highchair which gives me a few minutes peace lol! and he absolutely loves standing with support or being bounced! my poor arms heehee! not quite sure he looks up as much as he should but hes certainly a happy baby which is good. he laughed the other day for the 2nd time when i tickled him and it got me thinking about leo, because you'd said he smiled from early on, i dont know if he's still too young, but does he laugh? i speak to the other mums on here with los the same age as zachariah and all their children appear to laugh lots, i guess a lot of it would be down to visuals but just wondered? zachariah is forever gummy grinning but the effort i have to put in for a laugh is huge!
you love them from the beginning obviously but it is so nice watching them grow into their own little characters isnt it. i'm glad leo is lifting his head now you must have been so pleased, hes coming up to 5/6months now isn't he? we're nearly at 7months now come 3/7 cant belives half the year has gone already.
hope you get the pp sorted soon and leo continues to progress whilst youre waiting

Finn is slowly improving. Sometimes he will not look at you but most of the time with patience he will look and smile. The rare giggles are the best thing. My wife rang me yesterday to say that he was sat next to the mirror giggling at how funny he looked. I wished I'd been there.

He started on black and white toys with bold patterns so I think that is the thing to focus on. We were very impressed with the Moorfields people. We went to their clinic at Ealing hospital. I am still amazed they could work out how longsighted he was.

Its nice that there has been some positive news for people. Hopefully we'll all get there in the end.

finn3 that sounds fantastic, i would get the same reaction standing zachariah infront of a wall as a mirror, sounds like he is really coming on, and the giggling, like i said zachariah has done it twice and from tickling nothing visual. is it now about finn being long sighted then or is it still under the dvm label?

Hi all,

Leo does laugh alot, and babbles all the time. Obviously not from visual stuff, but from noises i make or being tickled. Leo loves being talked to, and i read that you have to 'teach' them to laugh, by laughing out loud when you do stuff, it feels odd but worth it, lol.
As for some dissapointment, i took Leo to a doctor where my mum lives yesterday because of all the progress i thought he was making, and once again i was told he didn't 'follow the light' at all. Its so disheartning and confusing, because we were all so sure. He does seem to follow stuff sometimes but not all the time, so maybe it was not the right timing? It all really makes you question your self and your sanity!! Surely i cant be making this stuff up, and just wishful thinking?? Anyway he told us nothing new, and i just cant wait to get to moorfields where someone might actually be able to tell me what is wrong!

oh i'm so sorry, sounds like the dr visit has brought you down a bit. Dont worry you know leo is coming on in everything else so it really is just the sight you are waiting for, and with any luck you will be on the plane for answers really soon.
i know this probably sounds like a really stupid idea and obviously as im a clueless mummy and not a dr it probably is, but have you ever tried just covering one eye and seeing if you get a reaction or fixation with one and not the other? i know our dr has never done this to look at zachariahs but, well, you try everything really dont you. if leo is anything like zachariah which a lot of the time it sounds like he is, there really are some days where you could almost guarantee there was something there and others where you could guarantee there's nothing. i doubt very much youre imagining it but you may find it is more to do with shadow/smell/breeze/or sense thats getting the reaction, thats what i assume with zachariah anyway! in fact my brother was telling me of a work colleague whose son was deaf, they kept checking by going behind him and banging some pans, couldnt understand why there was a reaction if he couldnt hear anything, until they worked out it was the wind from the movement of the two objects passed through air hitting the back of his neck! confusing isnt it! please try not to be disheartened, time will tell and with any luck when you finally get here it will be good news. thinking of you

i, you're right i have been a little more down since the last doctor's visit, you know what its like, i just keep wishing they would tell me something new, but like you said hopefully soon will get the answers i need.
I havent really tried to cover one eye, he's quite wiggly and hates being fiddled with. I did ask one of the docotrs if he could be blind in one eye, and she said that he would still be able to focus and follow if that was the case.
I think reality might be hitting me at the moment, but i'll be fine, i just need to feel like im 'doing' something, and i suppose i'm not very patient!
Hope you are well and im not putting you down with my moaning, i know its hard for us all.

dont be daft you're entitled to down days, its hard work, especially when youre helpless as you dont know what it is youre meant to be dealing with. when my lo was 1st seen they checked the optic nerves and im pretty sure i was told that unless theyre unattatched we have some hope.
i wish it wasnt a waiting game as sometimes i feel you sort of miss out on lo as youre so focused on his eyes instead (general you not personal)
Although i still put things infront of him to give them a chance to work, if im honest im a little fed up of trying and just sort of get on with our day and focus on things i know hes enjoying instead. i wont 'not' do anything for his eyes though until i know for definite, but it is hard.
now that zachariah shows more emotion it is easier, i dont think i could bare it if all he did was cry, id feel like i was failing him somehow. this definitely makes us stronger individuals and with any luck we'll pass that strength onto our sons. i worry constantly because milestones no longer seem quite so relevant anymore, im a little scared that his sight will affect him in other ways as he grows like speech/feeding/motor skills etc so i think unless we are very fortunate we will always be playing a waiting game in some respects.
Try as best you can to put his sight to the back of your mind, i know you always have to be aware of it when doing things with him, but at the same time i know with me i definitely felt better when i wasnt questioning every eye movement. i still sometimes think hes just playing a game with me when his hands find his dummy or something, but over time i've got better at just brushing those feelings off. Really hope youre feeling more back on track today.

i dont know if ive mentioned this before but theres a game zachariah absolutely loves. peek a boo, but we play with him on the bed and i put the cover over him saying 'wheres zachariah' then quickly pull it off saying 'there he is' he loves it, i dont know if its the feeling of the cover disappearing or contrast of light that makes it so much fun but it really makes him grin. Also now hes slightly older he enjoys pulling the cover off himself.

look after yourself, take care you are doing a fantastic job

Hello everybody,

I'm from Romania(eastern Europe), and i'm a dad. The mum is still not able to speak. She is crying since when the doctors said " Your 5 months daughter is having Leber Amaurosis".
I'm also down, down, down, but I'm trying to survive with this and I'm trying to pull up my wife.
Everything started at 3 months and 2 weeks when we noticed that Maia is somewhat loosing some of her vision. Until than she was following objects, she was following us with her eyes.
After this age day by day she was not able anymore to follow objects, people...Also her had was a little bit floppy.
Now she is havin 5 months, 1 week ago she was diagnosed with LCA.
Her had stability is improving day by day, but nothing new with her eyes. She is moving her eyes like she is looking all the time to the surroundings but she is not bale to focus, or to follows objecst or people.She doesn't have nystagmus.
Anyway we rae trying now to get an ERG exam next weeks. We did evocated potentials and this test seems to be ok for her age. Also MRI was fine.The last ophtalmo doctor noticed something at the retina.
We are really desperate, and we are looking to find any news that can help. Also I've read about moorefield hospital and their tests(it is a small hope but at least is a hope).I'm really interested about the visit to this hospital planned by Leo's mum.

Claudiuf, I know exactly how you and your wife are feeling. I can promise you this is the worst part, and with time it is easier to deal with. The wonderful thing is that with LCA, it is rare but common enough to have amazing people out there doing AMAZING things. The next thing you need to do after the ERG is to do the genetic testing to find out what gene strain Maia has. At Moorfields Hospital they are doing clinical trials as we speak on one gene type at a time. So this is great news for us all and I feel that as horrible as it all feels at the moment, how lucky are we that our babies were born now and not 10 years ago. I feel positive that my son (and your daughter), WILL see before they start school! Maybe their vision will never be perfect but I'm sure they will lead full, productive normal lives.
I understand that as parents you just want to 'make everything better', but when you are feeling really down, try and remember that Maia doesn't know anythings wrong, to her this is all normal. Focus on the positive things, and (although hard) try not to compare her with other babies her age. I know more than most this is easier said than done!
Try and get your wife to come on here and chat because it really does help to talk about it with others going through the same thing.
If either of you want to chat, I've done loads of reseach, I feel like almost an expert! My email is hannahlakesa@hotmail.com.
When was Maia born, she must be very close in age to Leo? What is she doing now? Have you started solids? Leo loves his food!
Keep well, and give Maia a big kiss from me and Leo.

Hannah

Hello Leo's mum,

Thank you for the response for the encouraging words.
For us as parents the last week news with Maia's LCA it was really a shock. My wife, i think, needs some time to consume this sufference first. As of me, i'm trying really hard to pull up myself. I'm thinking only that Maia needs me.
Every word which can bring some comfort in this situation is very good for us.
Regarding what you know about the trials, i've read something over the internet , but here in Romania it seems that nobody is able to show us in what direction we should go.
Now i'm thinking to get in contact wit U.K. Moorefield hospital, but is pretty difficult for us or maybe I don't know what to do.
Also If you are going there i want to ask you to sent me an estimation for the costs (this is also something that i'm worried about).
Please forgive me but right know i cannot say anything nice to anybody like you are doing, i guess for the moment i'm not strong enough.
My wife doesn't speak english so she cannot write here, but as soon as she will be able to overcome all these for sure we,both togheter, will get in contact with you all here.
Until at that time I will be here.
We are really scared about this situation because here in Romania, being a blind means "end of story". No social protection, no schools, no therapies. I'm thinking more and more to try to go for Maia in another country like Germany or somewhere else.

And Maia was born on 25th of January

[Modified by: claudiuf on July 02, 2008 09:54 AM]

Hi,

Leo was born on the 21st January, so very close.
I understand what you are feeling, and I know its very hard to be positive. You do need time, to take everything in, and i do hope that i can help in some way. Leo was only diagnosed about a month ago, so I too, still struggle with it all but i try very hard to be strong for Leo's sake. If you're anything like me I feel the need to 'make a plan', and be told what to do next. I live in South Africa, and it is very similar to what you say about your country, there are very little services and support for visually impaired children. . I agree with you, if there is no help there, go somewhere where they can. My advice is to do as much as you can in Romania and then try to find a way to go abroad. Luckily for me i am a British Citizen so am entitled to NHS services in the UK. I will definately try to find out the cost's and whether there is any charities etc, that can help you. The lab where we have to send dna for testing is in Estonia, so maybe there are specialist's there?
Believe me being blind cannot be the end, especially with LCA, as there is so much hope for a cure.
Thank God, the MRI was normal (Leo too), as this means there will be no other neurological problems.
www.yahoo.com has a group on LCA where you can ask questions and see lots of photo's of other children with LCA.

The person at Moorfields you should get in touch with is
Professor Tony Moore- tony.moore@ucl.ac.uk
(+44) 020 76086830

Keep well and stay strong

[Modified by: Leo's Mummy on July 02, 2008 11:00 AM]

Was just thinking, that you should also still hold on to hope because untill you have the ERG and genetic testing there is no way of actually knowing it is LCA. All they have done is 'diagnosis from illumination'.

Hi again,

The test we have done are : MRI - clear, Evocated potentials - normal(but these are not saying anything regarding LCA).
This diagnosis was first told by a specialist in pediatric neurology and confirmed by an ophtalmologist after an exam like you said(eye check up with illumination and she saw something at the retina, the retina is not reflecting the light like it should be).
Both of these two doctors were sure about the diagnosis.
We have to go for another exam to another eye doctor on 15th of july.
After we have to look were we can have the ERG, because it seems that in Romania nobody is doing such exam for such a small baby.
After this we want to do a DNA test to clarify which one is the wrong gene.
Honestly after reading a lot, i believe that this is the real diagnosis. Also after observing our daughter for some time. She is not following any object, she seems to be completely blind. The eyes are moving but if you are staying in her front really close you can see that she is looking through you not to you.
Also she has some delayed motor skils, like keeping her head is poor, hand are not coordinated at all . She is grabbing toys only if she feels the toy near her hand otherwise she is not looking at all at the toy.
And all these after a period until 3 months old, when she was following with her eyes toys or us or movements arround.

That must of been extremely har to feel that her sight was deteriorating.
Leo is exactly the same, he plays with toys if i give them to him. Does Maia follow light at all? Have you tried to get her to follow something in a dimmly lit room?
The hard thing for me is that i keep have moments where i really believe Leo can follow objects, but when i go back to the doctor they say he cant follow anything. Its all very confusing but like i said earlier the beginning is the hardest time, with time you will know how to deal with it, and carry on. There are up and down days but for me i just have to look at Leo and I know how lucky i am. I believe God know's to send these special children to parents that will do the best job at raising wonderful independant children who will achieve everything they want to in life.

claudiuf

I hope the messageboard is helping. It must be a very difficult time. We are lucky enough to live in London and went to a Moorfields clinic. The specialist said something interesting, that hearing rather than sight is the most important sense for development. Babies with no hearing struggle much more to develop in their first year.

My grandmother was born in Romania, so I feel a little kinship (although my family is really Hungarian). If you have learnt English to a level where you can discuss complex medical conditions, then my guess would be that your daughter will have a lot of help and lots of inherited IQ. Good luck and stay strong.

Hello all,

Thanks for all the nice words and support that you are giving to us.
We have scheduled another ophtalmologist visit her in Romania on 15th this month.We need another opinion about the condition of our daughter. Until than we are hoping the LCA will be not confirmed(just a small hope). In the meantime i've contacted Moorfields hospital and they are asking as 1st step a translated copy for the diagnosis.
Anyway, i have a question to Leo's mum. Did Leo lost his vision gradually?Because Maia seems to lost her vision gradually starting somwhere arround 4 months old.
I do not understand if it si LCA, how is it possible during first 3-4 months of life to see a lot of thinghs(toys, us, she was watching at TV) and after a rapid detrioration of her vision until today when she is not following at all toys, people. About the light i'm not pretty sure. She is feeling the light because if i'm directing strong light to her eyes she has a reaction.Also the dosctors said that she is having some normal reactions to the light, and it seems that she can see something but intermittent.

Hi

Im not sure about Leo's initial vision because when they're so young they're not really suppose to see so you don't notice it as much. We did think he could follow us around the room and also I thought he could stick his tounge out in reaction to me doing it. But who knows?? I doubt myself much more after all this.
Im really glad you managed to get in touch with Moorfields, they really are the people to see.

Hi,

When are you going to Moorfield?

Well im planning on getting to England in September and then i think there's about a 6 week waiting list for Prof Tony Moore.

Waiting4baby, just wanted to say Good luck for today, I really really hope it goes well and you get some positive news. I hope they can answer all the questions you have. Thinking of you. Please let me know how it goes.

hello claudiuf im so sorry to hear about your daughter maia and that your wife is struggling to come to terms with it. it really is such a horrible time for all involved and i hope that in time you both grow in strength and find people around you who can give you the help and support you need.

thank you, my zachariah is still undiagnosed, and if im honest im having a really hard time of it all lately, i just feel so unhappy not knowing whats going on. we've had the results of the mri scan and its come back normal which is great but the drs have said themselves theyre pretty stumped as to what is wrong now. we are now being booked in for an erg in 2 months time! (they think it will come back normal) and an appointment with a neurologist is being planned. i asked them whether dvm is now out the window as there's no progress and we're into 7mth now,theyve said that it's not ,and that there's no cut off time either, so God knows how long we'll be playing this waiting game. i just dont know what to do, i know i shouldnt give up hope as they've not told me to but at the same time i feel i have to deal with this someway and at the moment the only way is as if i have a blind son as how can i prepare a future for a seeing child if i dont know when/if that will be! sorry im babbling....
Really hope everyone else is doing well and feel theyre progressing in this endless waiting game, my thoughts are with you all

Waiting4baby, that REALLY is good news, that the mri was normal. Dont worry too much, in time they WILL know what is wrong. Thak God, you won't have to deal with any other brain issues. I also know how difficult the waiting is and the not knowing. Its so annoying when the 'specialists' don't seem to know whats wrong.
We have an appointment with the best retinal specialist in SA on the 23rd, so hopefully some more questions will be answered and she'll be some help.
Hope all are well :-)

thank you, i know the mri is fantastic news but i really want to be in control of this situation but as you and everyone else on here knows we dont seem to have any control over these things whatsoever! anyway i've picked myself up and dusted myself off and i'm ready to face another day again. i think part of the problem is the hope dangled infront of us. i'm really pleased there is hope and at the same time i dont want to spend every day planning for tomorrow and wondering, 'will this be the day he will see!' if that makes sense, i just sort of want to get on with our lives and i know that we can, it's just there will always be (for the time being) that little niggle at the back of my mind if that makes sense! AAAArrrggh!

i've been told that they know the eye looks normal, they know the brain looks normal, now for the erg to see if the bit inbetween is normal (and they think it will be) if it is normal they said they will probably refer me on as they dont have a clue, trust my boy to be one of those rare special cases of 'well this has never happened before!' haha! i think they are openly hoping it will just correct itself, so that makes about 30 of us!

Good luck on the 23rd i really hope you manage to get some answers soon. if only our little ones could talk and tell us exactly what they can and cant see. i plough through so many different sites thruogh the week trying to come up with my own reason for 'why' but as of yet i've not struck gold. thinking of you, really hope you begin to feel youre getting somewhere soon, and also that the passport comes through quickly so you can start the next chapter. thoughts with you all, take care

Hello Everyone

I have never posted anything before on any site but I have just spent the last hour reading this discussion. thank you all so much for what you have posted, I can identify with all the emotions you are going through.

We are taking Reuben (who is not yet 3 months old) off for a electric response test tomorrow morning. Most of the time we are fairly chipper as we have bought everything the 'social baby' site sells and Reuben seems to follow the black and white books and even looks at the mobile. However he still does not follow a light at all and we were told at his first appointment about retinal damage. The doctor did look at his eye and say it all seemed normal but then started saying one possibly is the scan could detect damage ........

We do not get the results for 3 weeks ! We are having the scan at one hospital (Leeds) and the eye team are based in another and it can take that long for results to be passed on. Cruel . However the eye team seem fantastic here, they are certainly responsive (ie return our phone calls) and we have already had a visit from the visually impaired team.

I hadn't heard of Leben's before reading all this, hopfully that isn't what we are dealing with but his lack of response to light worries me.

We won't be able to access the computer for a few days after tomorrow so don't think I'm rude if you don't hear back for a few days. It is just comforting to know there are others out there..... though I wish none of you were going through it all too.

hello reubensmum, i'm sorry to hear of yet another one dealing with the waiting game and hope that the erg comes back with some positive results. As you read the whole thread i know there is no need for me to explain about my zachariah, but i was just wondering... when you said he doesnt respond to light, is it all light? zachariah does not always respond himself, however if the sun is very bright he will squint (my family and i must sound terrible to passers by as one will say, 'oh look the suns getting to his eyes' and another will say 'good' lol)
i find toys with light have had little effect but my mobile phone, or digicam screen do seem to get a reaction....sometimes.
do they think the damage is in both eyes or will this be based on the test results? i really hope you do get some good news, i think we all know how hard this all is, despite each of us having slightly different problems we are all dealing with lack of sight, and it really is heart breaking.
is he your first too? i dont know that it would make a difference to the emotions but personally i sometimes wish he had an older sibling for him to 'look after him' after a fashion, like an older brother or sister always wants to.

i know you said there is retinal damage so quite how much this effects sight is probably unknown atm but i would think the fact he is following black and white objects (and at 3months) is a really good thing, zachariah doesn't follow anything yet and 7months+.

no need to apologise for times in replying we all understand about commitments in the real world, feel free to rant/compare notes/or just chat anytime. like you said its nice (in a not so nice way) to find people who can know what you're going through and really relate to it. thinking of you both and hope you decide to come back and let us know how youre all doing, fingers crossed for you

Quote:

Hi there,

So sorry to hear yet another family going through all this, and I really do hope the best for you.
I know its not always easy to look on the bright side in this kind of situation, but as for Leber's, they are in the process of clinical trials for a cure, they have allready improved sight in adults and they think it will be even more effective the younger the patient, as the condition has not progressed. In the beginning i ws praying it wasn't that, but now i realise it could be a lot worse (neurological etc), and there is hope!
I hope the ERG went ok, I know how hard it is to put our tiny baby's through all of these horrid procedures. Have you had the MRI yet?

Thinking of you, and as Waiting4baby said, please join us in using this forum to rant and rave as much as you like.

Hannah (Leo's Mummy)

Hello all, hope you're doing well.

Had our appointment yesterday with the retina specialist, who finally gave us some positive feed back. She agreed with us that he could see light and could somewhat see the shiny xmas decoration we took in. She is quite sure it is LCA, and we have to have Leo's blood taken :-( to send for gene testing this week. We also had the genetic counselling which was one of the things in a long process we had to get done. I feel that we are moving forward and hopefully a step closer to getting to moorfields and hopefully the cure!
Going on monday to test Leo's refraction , so he can have glasses if need be. Apparently far sightedness is very common in LCA.
Anyways, just thought i'd give an update. How is everyone doing? Any news?

Take care

oh that's fantastic news i'm so glad you are getting some progress and by the sounds of it good news too. i'm sorry i'd thought you werent seeing them til 23rd, so that's great you've seen them early.
So, LCA is back in the picture now is it? i thought youd been told that as your erg wasnt the same that it couldn't be anymore? good luck with it all, hope it continues to be moving at a fast(ish) pace for you and you get some answers of some sort soon.

We've yet to hear anything about the date for erg, but i can't say i'm suprised as everything seems to take forever over here.

the vision aid teacher that comes to us thinks he is beginning to see things but when i queried it they said they cant be sure whether its clearly or shadows etc. i have to say i'm not convinced as they based it on him reaching out and he tends to do that all the time at the moment, also he was never looking at the object he grabbed so i'm sure its his other senses kicking in! i hope they're right but time will tell. As you can see i think i've lost hope atm, i just want to get on with life and what will be will be. i've not really enjoyed 2nd guessing every move and so trying not to do it for the time being as i feel it only makes everything harder.

hope that everyone else is doing well and progressing positively.

good luck with blood tests, i hope the results bring good news and dont take too long in coming and good luck for monday too

[Modified by: waiting4baby on July 18, 2008 07:39 AM]

Thanks, yes it was more positive from this doc. At least I don't feel like i'm just loosing my mind!
We're booked for another erg on the 22nd August, they think the test must have been inaccurate, and that it can only be LCA. I have to just hope and pray he is affected by the gene they are doing the trials on.

Im really glad you also seem to be making progress, and im sure the vision person knows what they're talking about. Its also good (I suppose) to be realistic about everything, its best for you to be able to carry on with your life. You say he's reaching for things, so is he more intrested in toys etc now.
Leo can definately see a very shiny xmas decoration we have and if i put my arm over his head he reaches for it straight away. Even if its shadows/movement/outlines its better than nothing at all.

Take care

oh i totally agree, anything is better than nothing, its just when they say 'he can see' i just wanted to point out that in reality they dont actually know what he can see.

He's not showing any more interest in toys, just if i am holding something in front of him he stretches out his hands looking for something to grab on to, and ram in his mouth (teething) lol

i'm really glad that you are feeling more positive about everything and hope that the follow up erg brings some conclusive results for you. it must be great for you to know that he is at least seeing something, and they do say shiny things are the first things they are really drawn to so with any luck you will begin to notice even more things. have you tried cds? i was told to do a mobile of hanging cds as they will reflect and catch light. i am still pretty sure that with zachariah it is more to do with noise, but i guess all we can do is perservere! i heard from another mum who said her son didn't see until 18 months and now he is seeing perfectly!

i had a letter through today for a physiotherapist appt! i've no idea why we've been sent that but assume it is something to do with how he tends to tilt his head to one side, noone even told me it would be happening so who knows.

fingers crossed for you hope everytihng goes well for you.

[Modified by: waiting4baby on July 19, 2008 06:26 PM]

Today is an 'up' day for me. We took Leo to have his refraction tested and he is far sighted (apparently very common in LCA)! So he needs glasses. Im soooo happy about this because they say it should really help him. We got him fitted with a lovely photochromic (he's extra sensitive to light)pair, and also some of those baby sunglasses with his prescription in. He looks adorable in them.

bless him, will it take a while for you to get the glasses, i bet you cant wait for him to have them and start noticing the difference in his sight. really hope they come through quickly for him (and you) i'm sure he looks adorable. it must be nice to find something that you KNOW will help him. Hope things continue to go up for you.

im still waiting to hear about this physio appt, its really buggin me that i wasnt even told about it so feel really clueless about it all!

You should phone and ask them why you have the appointment. You have a right to know whatever you want. I'm sure whatever it is, its for his benefit. Any news on the ERG yet?
Leo does look very cute in his new glasses. They said they're going to try and get them made by friday, which is great.

[Modified by: Leo's Mummy on July 22, 2008 05:39 AM]

Thanks for all your kind words. Great news about the glasses. If it is any hope for you, when we saw a doctor they said that a 'false negative' ERG is possible (ie it can tell you there is no response when there is) so you could well get better news soon.

Our test went OK, Reuben woke up much earlier than normal on the day and would not sleep so was grumpy and tired - which upset me. However the technician said it did not make a difference what mood they were in (hmmm, I think he is a lot better when not tired). My husband kept sneaking a look at the screens, they definitely were registering something but we don't know what. We have to wait until the first of august to find out.

On the positive front whilst on holiday last week we bought a shiny balloon for our older daughter and he seemed to react to that. We also met another woman in a cafe with her daughter age 21 months who has retinal damage, she can see out of the corner of her eyes. She is up and walking about, just has to come downstairs like a crap. So that was good. We also have a list of visually impaired activities for the autumn school term, looking forward to swimming in the therapy pool - it will knock the socks of the cold public baths.

My health visitor had a case where the child did not see until 72 weeks and another was 9 months - so don't give up hope.

bye for now

Hello all,

We are having now a different view regarding our daughter.
The last diagnosis said she is having congenital amaurosis+hearing loss due to the central damage. They called this encephalophaty with unknown origin.

So, if 2 weeks ago we were devastated noe we are completely down.
All these means our daughter is deafblind, and there are chances to paralise as well, and mental retardation.

No more words.........

Claudiuf I am so sorry that recent news for you, was not good. I know its really hard right now. I won't pretend to understand completely what you are feeling. Whatever happens i'm sure you love your daugther unconditionally, and will be the best parents you can be to your special baby girl.
Just remember regardless of what the doctors say, you cant know what level of sight or hearing she will have untill she's quite a bit older, and can communicate.
Stay strong, and try to be hopeful.

Claudiuf, i've been thinking of you and your family. What is your next step? Have you heard any more from Moorfields? Is there anything we can do, I don't know, maybe fund raising for treatment etc...?

Waiting4baby any news on you and little Zachariah? We are also going for physio. I spoke to a lady who has a visually impaired 3 year old. She said her little girl met all her early milestones, even walking and she is positive its because of the weekly physio appointments she had.

Reubensmum, its true what you said about the ERG because our's really was inconclusive, because the results were not symmetrical in both eyes, which is very odd! Hope you've had some good news lately.
I by NO means want to be negative about the ERG, but we were in the room the whole time and I 'studied' the screen. I got my hopes right up (see earlier post) because there was loads of wobbly lines, definately no flat line, but it still came back with abnormal results. Its very confusing, and from that I think I wanted to know TOO much, and as a result was dissapointed. Our doctor told us the other day not to read to much in the ERG results as they are so young, and in an adult its much easier because you can be awake and still. Sorry to be the bearer of negativity, because your results really could be great! Good luck on the 1st.

We are booked in next week for a pre assesment at a baby therapy centre, which should be good, they have physio,hydrotherapy, music therapy and occupational therapy which should all be helpful to Leo.

Any ways thats my update
Oh, and we're picking up Leo's specs tomorrow, which im so excited about.

Bye for now
Take care everyone

[Modified by: Leo's Mummy on July 28, 2008 07:46 PM]

Hi,

We are planning to go to Germany for a full neurological exam and a full eye exam , means from scratch. We want to do this because here the doctors gave us 3 diagnosis.
Now we are giving a kind of treatment with some neurotrophe injections, that are not harmfull in case the curent diagnosis will be canceled.
Regarding money or fund raising i want to thank you very much for this ideea, but for the moment we are ok with this part. This is because we still don't know a clear diagnosis so we don't know if there is a chance for a cure and than how much money we will need. Anyway thanks for this idea and for the support.

Hi all. Here comes an update from me. My son is now 6 1/2 months and we still hope that it is DVM, although it is getting more and more difficult as the time goes by without anything happening. We have had ERG and another VEP. The ERG was normal which was positive. The VEP however was the same as the one we had a month earlier, which means that my son has not started seeing. The eye doctor said that my son's "unaware vision" is functioning (sorry for now knowing the right terminology), i e reactions to bright light, pupil reactions etc works fine. But the "deliberate vision", is not there.

The bad news is that the doctor also wanted us to have his hearing checked up. My son doesn't look in the direction of sounds and this didn't seem like something that fit in to the diagnosis DVM. We know that he hears something because we've seen him jump to loud noises and he often smiles when we talk to him. But I don't know now. Is he deaf and blind? What kind of life is that?

So now we are waiting to do hearing exam and also MRI. No dates are set yet.

What are your little ones like? My son seems calm, quiet, happy and so very kind. He seems to be in a world of his own and smiles and makes happy noises. He almost never cries and when we talk to him he smiles and seems content. Lately he has spent a lot of time lying on his stomach, and he holds his head up well and tries to crawl forward.

Hi CJK,

It seems to me that our kids are behaving almost the same.
My Maia is happy, sometimes angry(hungry, upset), she makes a lots of noises, she is smiling to us, she is reacting to our voice, she is reacting to a lot of other noises like phone ringing, doors, dogs, birds etc.
But she is not turning her head in the direction were the sound is(only some times she is doing this)
Reagarding the vision the eye seems to be OK but she is not following objects, people(some times i have the impression that for brief moments she is looking to me, but only this).
The rest looks pretty fine, she is improving her motor skills, and verbal skills with new noises.

So, here we are having 3 different diagnosis :
1. DVM
2. Leber Amaurosis(even she is not presenting nystagmus, rubbing eyes, etc, almost any symptom)
3.Encephalopathy with unknown causes( this one is the most terrible) but like I said if I'm not taking into account the vision she is looking like any other kid, so i don't know what to say about this third diagnosis. As I read in such cases the kids should react(or no reaction) totaly different.

As about hearing : I've read something about this and it seems that if the vision is impaired the kid will loose interest for some kinds of noises(she/he will react to parents voices and noises that he/she can link to different activities/feelings etc.) for the other will show no interest. As I notice to my daughter she tend the ignore some noises already.

We are trying now to go to Germany in the next 2-3 weeks for another evaluation there, maybe we will have a much more clear diagnosis.

Until than we can only have hopes, beacuse like you said, it seems that with vision nothing is changing, but maybe, maybe who knows.....

For you all like we are saying here in Romania :

I wish good health to you and to your kids.

Hi All,

Reuben's Mum, did you get your ERG results, I hope its good news.

We had the blood tests for the gene tracking, am so glad thats over all though we have to wait upto 3 months for the results.

CJK and Claudiuf, I really don't think your babies cant hear as they are responding to you, and surely they would be able to do that?? Sometimes Leo doesn't turn towards the noise, but with no vision why would they?!

Anyways, take care everyone, and one day soon, im going to come on herer and hear of a miracle with your babies!

:-)

Hi all sorry not been on in ages. I am having huge problems with internet and still don't have any, am using my phone as wanted to check in and see how you were all doing. Sorry to hear we are all still waiting. Hearing- z still doesn't always follow sound, if it's a familiar noise he will occasionally ignore it. Hth. We have erg tomorrow. Yay but they want to try it without sedation so not sure how successful we'll be. Thinking me you all sending good luck cyber wishes for positive news soon for each of us:D

Waiting4baby, hope the ERG went well, and that you get good news soon.

Hello all,

We just came back from Germany.
So they made again all the tests. But without the ERG because they don't belive in this diagnosis. The MRI was ok. Some blood tests and cerbral fluid also ok. They sent some blood and fluid to Heidelberg for additional tests.
The ophtalmologists (2 different ones) said that there is nothing wrong with the eye.
So the conclusion was we have to wait another 3-6 month to see if she will have some inprovements.
In the mean while Maia started to follow briefley some toys. Also sometimes she is fixing with her eyes people(me, my wife) but not very consistent. If i'm moving near her she is following me but only for some moments. This is a progress compared with 2-3 weeks ago when we didn't had any visual contact with her.
We have to do exercises with Maia because, still, she is not keeping her head very stable, and also she is not using her hands like she is supposed to do.
Everything else seems to be really ok. She is playing a lot with the leg, with a carusel(she is moving the eyes when she is sitting under it).
Another thing that she is not doing, she is not turning the head in the direction of the sound. She is trying to move only the eyes.

So these are my news. We are not happy but at least some hopes we have if we are looking at the last 2 weeks.

Hi to everyone.
This is my first time I have used this forum. I have read your posts with interest and my prayers are with you all. We have a son who has been diagnosed with DVM. We are broken hearted. He is 20 weeks old. He can track objects but does not respond to our faces. We are going to Manchester eye hospital next week for further tests.
We can't believe is happening to us as we had a normal pregnancy and delivery, you expect things to be ok.
I wake up everyday hoping to see an improvement.
I will let you all know how we get on at the hospital next week. I am thinking of you all.

Hi ahh,

Sorry to hear another family going through this hard thing. DVM though is a good diagnosis, if you look at all the worse things it could be. What tests are you having done? How did they come up with the dvm diagnosis? Can he track any object, just not faces?
Anyways keep us posted and good luck next week

:-)

Hi everybody! I'm also sorry to hear that another family is going through this. I am so glad though that this forum exists and that there are other people in the same situation to talk to when it feels like you are about to fall down into a black hole.

Claudiuf - it seems like good news in Germany although you haven't got the final diagnosis yet. This must mean that Lebers is out of the question, right? I keep my fingers crossed for good results soon.

No news here really. I call the hospital twice a week to ask when we will get an appointment for the MRI scan. September-october sometime is all they can say. We have an appointment with an audionom on Sep 17 and if this is bad I don't know what to do. Like you Claudiuf I'm thinking about how life will be if my son is deafblind. What is the point then?

My son is eating a lot of food, sleeps well at night, smiles, has two teeth and seems very content. He lifts up is head well when he lies on his stomach, and he can sit without us holding him for about 5-10 seconds. In a babychair he sits ok although he tips over to the side sometimes.

He still does not turn his head in the direction of sounds but my husband is absolutely sure that he reacts when he hears my voice. I can tell that he looks happy when he hears some sounds and he reacts to very loud noises.

He does not seem to track of follow objects though, and no eye contact whatsoever. But today I thougth I saw a reaction when we were out walking and the wind was blowing through the leaves in a big tree, and the sun shone on the leaves. I'm not sure though.

Take care all! Thinking of you and wish we all lived closer, it would have been nice to meet you all.

Hi Leos mummy,

William was diagnosed with DVM by going to see the opthalmist. He said he would put money on it being DVM but that was six weeks ago. From what I have read though I don't know how it can be as I had a straight forward pregnancy and a c section. He was born at full term with a healthy weight. We have no family history of eye problems.
William can follow objects and will turn his head to noise but has no response to anything else.
The only test we have had done is where the pupils are dilated and the opthalmist looks into the eye. He said the eyes looked healthy.
We are going to Manchester eye hospital on Friday for more tests so I will let you know how we get on.
How is Leo? How old is he? What have you done about work? Have you thought about schools? Have you any more children?
We have a four year old girl who has normal eyes sight.
Thanks so much for replying to me.

hello all i am back for a couple of days as at the in laws and they have internet, yay! hopefully will get back online soon but its a long story so wont get into it. ....had just posted a long reply and it went and disappeared so here goes again!

the erg went well thank you, although we dont get the official results until the 15th i was told that there was a response which is grear, he only had the 100x flashing lights 3 times and he was pretty good, although i did hav e to sing to him much to my embaressment as the dr looked on in amusement! hen seeing the opth i think it will be crunch time as they will have reached a dead end and so i am expecting to be transferred to someone else to start all over again as they had forwarned me of this happening. we are still waiting to hear from the neurologist but at the moment they are all desperate for it to be dvm. we're seeing the physio ion the 11th but if im honest i am not too worried about that as he has been doing fantastcally, he can sit (although does still topple occasionally) roll, he can crawl (but only a meter so far) he is even beging to pul him self to standing my little star! he's yet to make any sounds baba or mama dada etc but im expectiung them to take longer as i read somewhere that speech would be delayed.

i am so sorry that some of you appear to be having a hard time of it all lately, i know this probably sounds like sill advise but its really helped me and so i'll say it anywany. try to forget about the visual problems. i found in the beginning questioning his every movement was swallowing up my day and quote honestly sucking all the fun out, now we just play, go out, eat , sleep whatever and he is a really happy and contented little boy. it makes such a difference just enjoying your day without letting the eye thing consume you, its hard at first but i promise you it really does get easier.

ahhh, im sorry to hear you are going through this, i think you said your lo was 20weeks, please do not give up hope yet. my zachariah is coming up to 9 months but first diagnosed with dvm at 6 weeks and if there is one thing i have learnt dvm is a very long wating game, you are unlikely to get answers for several months from now but i am sure things will run smoothly for you. i was told dvm usually sorts itself by 9months, sometimes 12 but there are children as old as 18months who suddenly develop their vision.

like you i have no history of visual problems in my family he was full term it weas natural birth and it was a really big shock but like leos mummy said if the only thing that is wrong with our precious babies is their vision we have been very lucky

disablitly is only a disability if we make it one, i am sure in months to come we will all be telling each other how amazing our little ones have become,

a few months ago i decided to live as if my son is bind as i personally could not cope with questioning it all the time. simple things like ooh would he like this film/game when he's older etc just upset me so i stopped thinking about it. if i am honest thouhg i do think he can see something now even if just shadows, there is still no face recognition but he does sometimes reach out for things and there is no sound from them. it may just be he has developed his senses fantastically but either way i thnk this is really good news. i think i will never know if he can see until he can tell me himself noW!

my thoughts and prayers are with you all, good luck everyone and look forward to hearing of all your little ones mile stones

leos mummy, any news on your trip to the uk yet? hows leo doing with his glasses, has he adjusted to them well bless him.

Hi all,

Thanks for your words of encouragment waiting for baby. You seem to be really strong. I am finding this so hard to deal with. I wake up everyday hoping things have changed. It seems that when I go out all I see is babies and toddlers. When people look at William and he doesn't respond I don't know what to say. I guess that time will make it easier to deal with and I will become less emotional about it.
Its great that your son can sit and is beginning to crawl.
This forum is so helpful, just knowing that we are not the only family going through this helps and we understand how each other are feeling. Obviously I wish we all didn't need to use this forum and things were different. I include you all in my prayers everyday.
Does anyone live near Manchester England?

Hello again everybody,

My Maia had some small progress with vision, but she still can hold her head like she supposed to do.
About crawling nothing until now, and about sitting she can do it for couple of seconds, but that is all, but she really wants to sand up. all day long she is pushing in her legs to stand up.

We don't know what to think, we are affraid to be happy about vision progress, and we are still waiting the final results from Germany(some special blood test and spinal fluid)

What can we say ? We cannot be happy but at the same time we have some hopes. We are waiting every day to see something new, and i can tell you that a lot of this days we are dissapointed. When i entered the firts time here we were really desperate, now we are trying to learn to live with it, and we love our daughter. It doesn't matter what she has, it doesn't matter what it wiil be, we just love her. Is really hard, like you said, when you are seeing other childrens, but that's it....
We can do only two things : one is to love her, and the second one is to fight for her......

Ahhh, it is difficult, I’m still unsure what to say when people look at him. To be honest though I think most people tend not to notice as his eyes do move around so it just looks like he is interested in everything but them. As for people we know (but not family) we tend to just say he is having visual problems but don’t know more than that. Although it is frustrating as they continue to ask ‘any news’ but people soon stop. I think unless strangers are really annoying with you and persistant in getting their attention just ignore it, other mums have said to me though if you just turn around and say ‘hes blind’ people tend to murmer a few words and leave you be without needing to go into details with them.

we all deal with these things in our own ways, I have days where I get really low about it but then focus on something other than his eyes and it makes all the difference. Zachariah didn’t actually smile until 4 months and that was really heartbreaking but now I cant help but grin back at him when his gummy smile appears, it really was worth the wait

Claudiuf I am sorry I cant remember how old you said maia was but I am petty sure she was several months younger than zachariah, the fact that shes not crawling I am sure means nothing at this stage, my health visitor told me that most babies don’t even attempt to crawl until 10 months so I am sure she is doing fine. Also if you think she is progressing each day then every day you have something new to celebrate. I know it is difficult and you always worry that maybe you are just wishing it and it’s not really happening, but sometimes it is.

I honestly don’t know if zachariah is beginning to see or not but I really feel there is something there that wasn’t before and if it is just he’s learning to use his other senses that is still good for him.

I live in s. wales but have family in shropshire.

Hello ladies,
How is everyone? I am working my way through your thread to catch up but it may take me a while hope your all ok?

Hi ahh, we go to Manchester Royal Eye Hospital all the time it's great everyone is nice and they are really informative, if you don't understand something then ask them to explain it to you or better still ask them to write it down, I did this with Jessica as it was all to much to take in at first *blushes*
Oh and take some drinks with you it's usually packed and can be a wait to be seen

Hi all. Waiting4baby - you are so positive and it is contagious ;-) Thank you for all your encouraging words, it feels good to talk to other people in the same situation. And the situation seems so much like ours! We also had a perfectly normal pregnancy and a c section and no history of visual problems.

Waiting4baby - our son also moves his eyes like he is looking around, just like you described. Sometimes he gets cross-eyed though. Do you feel that you can communicate at all with your Zachariah? I don't feel like a get a lot of response. My son looks happy and content when I talk or touch him, sings to him etc, and he laughs if I tickle him. He sometimes makes noises, like talking to himself, but I can't say that he answers or talks to me at all.

He has started to sit for about 20 seconds but no crawling yet. He spends most of his time lying on his stomach and he holds his head upp well.

Take care all!

hi cjk, i'm glad i've helped but i am sure as each day passes you will all find yourselves feeling more and more positive.
i definitely feel zachariah communicates with me, i have no idea what children with perfect vision are like and it has been more and more obvious over the last month but he smiles a lot when spoken to, (laughing tends to be reserved for tickles only and very rare) he is beginning to understand words like breakfast, lunch, dinner, nappy, dummy, zachariah, give me your fingers (i say this when pulling him up) basicallly i've found by being repetitive and aways using the same word for each action he is slowly beginning to pick up what they are. of course i may discover it's all to do with the pitch i say them but i'm pretty sure it's not as he knows what he wants. his ears will prick up if he hears myself or his daddy and he sort of stops still if theres a lot of noise going on around him, nosey in his own little way heehee!
i dp things like the song head/shoulders/knees etc with him and touch each part and this gets a reaction as when we get to mouth he prepares to grab my hand and eat it. Counting has worked well whether it's poppers on clothes or countdown to arriving outside our door/food time etc. he's not able to point for what he wants obviously but by asking him words he hears a lot i do tend to get a smile for the right one or a heh heh noise and jumping on his little legs whilst being held. of course i could be making my son out to be some kind of genius and it's all in my head but i do feel we are getting somewhere. he is however a very fussy baby, hates being left alone (especially me leaving him) wont go near the bath we have to do bed bath and flannels, he cries his little heart out when we go somewhere that he doesn't know, especially if it's noisy but by being calm with him and accepting not everything is going to be 'normal' we do ok.

i feel like i've written far too much in my last few posts so apologies i just keep babbling as i know for me i wanted as much information or anthing i could relate to as possible.

hope i've answered all your qns, feel free to ask more and if i've missed one i'll try to get back to it.

ooh the talking/response thing. i don't tend to get a response just a look. zachariah has this thing where his head tends to be tilted to one side and he 'looks' out of the corner of his eyes, no idea why, i put it down to him being vertex and stuck but drs say unlikely!
however if i make cooing sounds he tends to copy them and generally they are the same pitch but not always and he loves it if we do it in reverse and when he makes noises i copy him.
tbh though a lot of this is things that have improved over the last month so although we all put a lot down to their sight some of it is that they're just not old enough. i am forever paranoid about what he should or shouldnt be doing because you cant help but wonder if its their sight holding them back but most of the time its just i'm expecting too much :roll:tsk

Hi all,
We went to the eye hospital today. The drs checked Williams vision using the black and white boards and he followed the majority of them but was slow in following them.
When the dr shone the light in his eyes and moved it he turned to it a little but I don't know if that was a coincidence or not.
They dilated his pupils and said that everything looks normal. We have to go back in November.
At least they still think its DVM.
Joanne and Brood, do all of your children go to the eye hospital? have they had/ got DVM?
Claudiuf, thanks for your comments. Its good that your baby is wanting to stand.
CJK and Waiting for baby- thanks so much for being positive. Your babies are lucky to have you as their mummies.

[Modified by: ahh on September 05, 2008 07:52 PM]

ahh, that all sounds REALLY good, we've been going for months now and zachariah has never taken any notice to the black and white boards, and only once tracked the light but the guy was talking and hadn't realised (but i know he was it went along the lines of ' now lets see if you can follow this, ah ha!' lol.)
i think it can only be positive that there is already some sort of vision there, although i think zachariah has improved he hasn't met this stage yet. so congratulations and i really hope he continues to improve. take care of yourselves, thinking of you.

leos mummy/hannah: how are you doing, any news of you getting to the uk yet? and how is leo doing with his glasses, i would imagine you have seen a real change in him now.

Hi, I've read this forum with great interest as my baby has just been diagnosed with DVM. We've been to the pediatric opthamologist and he said that everything is normal with the eye except for a sluggish dialation. He does not thing it is Leber's. However, since Milo was only 6 and a half weeks at the time (he is now 8 weeks) the doctor wanted us to wait 2 months and then come back for reevaluation -- at that point if there is no change he will do an ERG and an MRI. We have also had an EEG done because his eyes do wander and shake sometimes and our regular pediatrician was concerned that it might be seizures. Fortunately brain waves were normal so hopefully it is just DVM. The opth did not see nystagmus but his eyes definitely shake and move weirdly sometimes -- i don't know if that just has to do with the immature system or if it's possible that he missed the nystagmus. Hopefully we will find out more at the next appt in Oct. But it is sooooo hard to wait.

Your group seems so wonderful and supportive and it seems like the only place to turn. I am having such a hard time dealing with this although i try to remain optimistic. It seems like bizarre things just keep happening to us -- following my labor i was unable to walk for about a month because i had compressed the nerves in my legs during the pushing phase. It was also strange and no one seemed to know what it was, and just as I recovered from that we've been hit by this. My husband says that I just need to stop worrying and that all will be fine but it is so very hard and my heart is breaking.

Hello everybody and welcome to Milosmum!
So nice to read all your updates, especially nice to see waiting4baby is back and glad that Zachariah is doing well.
As for my Leo, he is doing great. He is sitting alone. although he does fall over after a while!He has just started to roll from back to front which Im really proud of because ive been waiting for that! He's also eating well and talks all the time, recently adding ba ba ba and da da da to his vocab.
The glasses do seen to make some difference but I dont make him wear them all the time as they irritate him and he grabs them and tries to eat them.lol.
Stil waiting for his passports so we can bring him over. Also think Im going to wait to get the results of the genetic tests that we had to find out which gene strain of Leber's he has (if any...). That should take another 1-2 months as they have to go to Estonia.
Its very interesting to hear everyones stories. Milosmum, how old is your little one now? Its seem very young to have the EEg done, when Leo had his at about 3 months they told us not to read into the results too much as they change over time. After DVM, Leber's really is probably a good result opinion because they are doing effective clinical trials as we speak. As with milosmum it is the sluggish pupil reaction that concers the doctor, making the clinical signs different to most of you on here.
As with waiting4baby we are positive and try to just make the most of all the wondeful things Leo can do. He smiles laughs and babbles all the time and is such a happy content baby. We have to rememeber that he knows no different. All of this doesn't mean that its not hard everyday and that we are not to be sad about it but as claudiuf says all we can do is love them as we are doing!
It would be great if we could all get together at some point, hopefully when im over in the uk. Our gorgeous ones could meet which would be lovely.
Anyways keep updating on here, it really is helpful to hear what everybody else is doing.

You are all in my thoughts and keep doing what your doing with your lovely little ones.

Take care
Hannah

Hannah, thank you so much for the welcome. It does help to know that there are others in the same boat. Although our stories aren't exactly the same it is comforting to know that others are going through something similar as this is such a strange situation to be in. Milo is 8 and a half weeks old and we got the diagnosis at about 6.5 weeks. We live in Brooklyn. It seems like most of you are from England. My brother may soon be moving to London for his job so hopefully I will be able to visit at some point.

Hannah, they did the EEG specifically to rule out the possibility of seizures or epilepsy -- my dr. thought that might be the cause of the trouble with his eyes but fortunately doesn't seem to be. It was not fun though -- they hooked Milo up to the electrodes and videotaped him for 24 hours. He was fine but uncomfortable I think, as was I since I had to breastfeed him and hold him and sleep the night in the tiny uncomfortable hospital chair. Was this your experience with the EEG as well? Did they want to rule out spasms or was it just to check brainwaves? I don't know if it has any other diagnostic usefulness in terms of DVM but let me know if you know more -- it sounds like everyone here has far more info on this than I do.

I have to say that everyone is so wonderful and positive on this forum that it gives me strength. Of course we all just love our babies but I pray for all of us that one day our children will be able to see.

I started out the day feeling really down as it was dark and rainy. I felt like there was no way to get through this and it sat heavy on my heart. But then Milo had a day of many smiles (still few and far between) and my spirits soared...I just love my little boy so much no matter what cards fate has dealt us.

Best wishes to all...
Jodi

Hi all, welcome to Milos mum.

It seems that most of you have had ERGs carried out. William is 5 months old now and still hasn't had one. We have to go back to the hospital in November for another check up so it won't even be done then. I know that the later they are carried out the more reliable the test. I will push for one when I go in November. I'm just hoping that he will have made some progress by then.
I would love to meet up one weekend, I am in Manchester and would meet half way/ travel to meet up.

Milosmum, I think I may have got confused between the EEg and ERG...:\? Leo had an ERG test where the electrodes are stuck all over his head and then light was flashed in front if him. Your EEg experience sounds like it was really hard. When we had the ERG I was also breastfeeding I know how hard that was between all the wires, so for 24 hours must have been a real struggle. Im sure it was worth it though as the results ruled out brain problems.
Our stories are all varied but with lots of similarities and I also get strength from everyone on here. It will be interesting following all the progress that we all make with our little ones over time. I live in South Africa, but am planning a trip to Moorfields in England in the next couple of months.

Hope you are all well,
Take care
Hannah

Hi all,
Thought I'd tell everyone about some resources I use with William. I recently bought some jingle bells that you strap around the wrist/ ankles. He seems to react when he hears them. I bought them from Mothercare. I have also got a black and white mobile and a black and white playmat both from socialbaby.com. Hope this of some use to you all.
Has anyone else got any good tips for stimulating the babies?

http://www.thenoveltywarehouse.com/

I use this site to get stuff for the kids, it's great for stimulation for them :)

I go all the time ahh, all my brood and DH go to Manchester royal eye hospital to be seen even though lucy's eyes are ok.
They youngest 3 have DVM, astigmatism, CI nystagmus, development nystagmus and other eye problems which I shamfully can't spell or remember but they weaken the eye muscles aswell as them not being developed peoperly which is the main cause for thm being born blind.

Hope everyone's well take care xx

Hi Joanne and Brood,
I went to a toddler group for visually impaired babies and toddlers on Thursday. It was at Henshaws Resource Centre in Old Trafford 10-12noon. I found it to be quite helpful in meeting other mums and sharing experiences. Have you ever been? I'm sure you would be very welcome if you wanted to pop along. It was a bit of a treck for me as I live in Stockport but worth the journey.
Thanks for the website address, I will have a look at it.

I'm just wondering -- it sounds like your babies are cooing and babbling a lot. When did they start to do that? Milo is two months and he makes little noises but not a ton. Also, he smiles sometimes but I can't tell if it's in response to something we've done or our voices or if it's just random. Just wondering what your experiences were when your babies were about 2 months since I figure the blindness does affect other things as well.

Oh, another thing -- Milo hates tummy time. His neck seems to be getting stronger but when I put him on his stomach he usually just fusses and I can't get him to lift his neck much. I'm wondering if this has to do with the fact that I can't make it interesting for him by distracting him with visual stimulus so he will lift his head.

Joanne & Brood, you said that some of your children have DVM. When they got their vision back did it come in gradually or was it all at once?

Sorry for all the questions but it seems like this is the only place that I've found real people dealing with the same thing.

Hope all is well with everyone and that the new toys for stimulation are helping -- I am going to check out those websites, although since I am in the U.S. may not be able to order.

Hi Milosmom,

Hope you are well.
Its funny because I cant really remember much about that time (Leo's 2nd month), because thats when all the diagnosis' and tests were being done. I do rememeber taht at about 5 weeks Leo started smiling in response to being talked to. At the time I thought it cant be real smiles because his head was always facing one side or rthe other, never at your face.
Leo must of starting babbling at about 3 months or so. Noises that sound like little screams were the first. Now he has started with mmmm and da, but it doesnt mean anything. Just him experimenting with his voice. He also has been making noises like when you blow a raspberry all the time now, getting louder and louder, which is really funny.
As far as tummy time, Leo has also always seemed not to like it. He has a very strong head and neck but doesn't yet push up on straight arms. He started holding his weight on his fore arms at about 5 months I think. He's recently been able to roll from his back to his tummy, so it must be more appealing these days to be on his front. It is hard to motivate them if they cant see but using noisy things/toys seems to help or getting right down there in front of him and talking to him.
I hope this answer some of your questions from my experience. Whatever happens rememeber that ALL babies are different, sighted or not. It can be very difficult in the beginning (and even now!), to not be comparing your baby with all the others you see. I have spoken to mothers of other visually impaired children, and some did things excactly as the 'normal' chart says and some different, so try not to worry. I say have them be babies for as long as possible!lol.

TAKE CARE

Hannah:D

Finn went to see the Moorfields clinic at our local hospital today. As we thought he has really improved and they think he has almost caught up to where he should be.

They still have some concerns about long-sightedness but he's going to be fine. Its great news and we are so lucky. I can remember how low we felt when he was 3 months old and we started to realise there could be a problem.

His sight started with black and white patterns. It improved slowly at first and then before you knew it he could watch faces. He is such a smiley chap now.

I wish everyone well on the thread. It was good to feel part of a community and get support from people who are dealing with problems far worse than ours.

Richard

Wow! Thats amazing news Richard. Congratulations and all the best for the future. So happy for you and your family, I can only imagine how you must be feeling.

Richard,
I am so happy for you. It must be such a relief to know everything is going to be ok. I will read your previous posts on the forum to learn about your experiences. Thanks for letting us all know.

hello everyone, still no permanent internet here but am catching up with you all as and when i can.

Milos mum hello, i am so sorry to hear of yet another one going through this. it is still very early days for you though and so i really wouldn't be worried about him not making much sounds yet, as hannah said all children develop at different ages. i don't remember exactly how far along zachariah was before he communicated but it really did take a long time and even now at 9.5 months he still cant make any 'ba' 'ma' 'da' sounds but certainly looks as though he's going to be a right little talker when he gets his tongue. they say sight willl delay the speech but nothing is a certainty. Also he absolutely hated tummy time and i didn't push it, now he has now problem with it although this is because he is beginning to crawl, no amount of visual stimulation ever helped with this at all, although i'm not saying it wouldn't for you.
Ahh, we had an erg very late so i wouldn't worry that you have not had one yet, i think it was only last month we had ours, they do say the older the child is the more reliable, so i would agree that by november you should ask but not worry too much that it's not happened yet.
Finn3 wow, congratulations, i'm so glad all is well with you, i have to say when you said about laughing in the mirror i'd thought it sounded good, i am so pleased to hear some good news on here.
leos mum i'm really glad all is going well with you too.

Well, update on zachariah: we have reached a dead end, basically the drs have said there are no more tests they can do, they can't see why he has a problem and they hope that over time it will develop so will keep an eye on him! in the mean time i can choose to go for a 2nd opinion somewhere else, i am waiting to hear where but am going to try and push for moorfields. i am wondering though why we have never had any mention of lebers or genetic test done for him, does anyone know if this would be because he doesn't have the nystagmus or problems with supporting his neck?

the good news is they've said he definitely hasn't digressed. the erg came back normal although his response time for eye to back of brain was slow (they say could well be linked with delay and improve in synch with visual development)

i am getting more and more confused with whether he can see or not as he is constantly reaching out to grab things now and usually gets them spot on although does sometimes reach out in search of somethihng with no luck. i am beginning to wonder if he can see from the corner of his eye as this has been his preferred pose since birth. they say he definitely isn't blind but have no idea what he can see whether it's shadows/blurs/objects who knows, speak zachariah speak lol!

i noticed people had mentioned helpful toys etc and though i would add something i got which zachariah loved was one of these chime toys you clip onto your pram as it wuld jangle when we moved and then when he flapped his arms about it would make noise too. we tried it in the shop and he just stoppped in his tracks looking amused. it was only from asda no more than £3 i think it was a bright starts toy, will try and see if i can find a link later. Also in the early days we had one of those winnie the pooh toys sleeping on a musical pillow which had lights shining, that was great for soothing him to sleep.

sorry another essay! good luck to all of you and keep your spirits high i think all our children are doing brilliantly, thinking of you all, best wishes

First of all, that is such wonderful news about your baby Richard! It gives hope -- I am so pleased for you and your family.

Hannah and waiting4baby thanks so much for your input on your little ones at 2 months. I feel much better today. Yesterday Milo had his regular 2 month checkup with the pediatrician and she said that he appears to be completely neurologically normal for his age. His neck lifting was good as well as muscle tone and even made a few of his regular little cooing noises and she said he was on track. Plus, today, he has been very smiley and as talkative as he has ever been. So I feel very reassured and thank you for your advice. You're right, babies all go at different rates -- as if I need something else to worry about!!

waiting4baby don't give up hope -- you must have come across the same research as I have when looking up DVM. It can definitely take longer than 9 months -- particularly since the whole thing is a mystery to most doctors. It might be worth asking your doc about Leber's. As Hannah mentioned there are a lot of clinical trials going on for that so it might be worth checking into. But it doesn't sound as if Zachariah's other symptoms fit. For Milo he has sluggish pupillary response and possibly nystagmus but the opth still didn't think Leber's (said something about some eye function being a 4 with Milo and with Leber's it's usually an 8). But I feel like LCA is a real possibility for us and hopefully I will learn more when we get further tests at the end of October. Frankly, at this point I could handle a diagnosis of Leber's. It is terrible to think about, but I have imagined so many worse things -- Milo can still lead a rich and rewarding life even with blindness.

I am glad to have heard some good news on this board, though, and very much hope we'll be on a streak. I pray for all of your babies as well as my own.

Hi all. Richard - I'm so happy for you and your family. I wish you all the best for the future.

Waiting4baby - it seems that we are almost in the same situation although we still have the MRI in front of us. Tuesday Sep 23 we will have it done hopefully and I dread it. Our son is now 8 months, has done VEP, ERG and the doctors have concluded that nothing is wrong with his eyes. When we did the ERG I asked about Leber's. And the doctor then said that it can't be Leber's when the ERG is normal; ie the retina works fine. So Waiting4baby - it can hardly be Leber's, can it?

Last week we had his hearing checked up and it was normal which was a great relief. But still I wish he would communicate more. Most of the time he is quiet, content, his thumb in his mouth, looking like he is in his own world. He does not really react to sounds and he is not very interesting in exploring things with his hands. He sometimes makes happy noises but they have been the same for months. He doesn't seem interested in experimenting with his voice at all. He still can't sit without support, he hasn't begun to crawl...

Basically, all he does is: lie on a blanket on his stomach, sometimes head up for a long time, lie on his back, sit in a bumbo chair or baby chair without doing anything, sleep, or he is in our arms, cuddling up with his thumb in his mouth. He can roll over but doesn't seem to se the point with it.

Sorry for sounding negative but I feel like nothing ever happens with our son. He is just growing, nothing else. I feel like I don't know him at all since he doesn't show any interest in anything. He is like Ferdinand the Bull ;-)

Thought this might be of interest to you. Some of these babies were around 9 months, there's plenty of time for most of you.

http://brain.berkeley.edu/pub/1983%20Delayed%20Visual%20Maturations%20in%20Infancy.pdf

thank you, i will not give up hope until i'm told to, and even then it will probably still be there hiding somewhere deep inside me.

cjk thanks for that, i didn't necessarily think he had lebers i'm just clutching at straws, desperate for there to be a reason for all of this and frustrated that they seem to think there are no more avenues to explore!

please don't be so down, all children develop at different rates and i think we especially will be inclined to compare as we are so worried that it will be a problem for our little ones.

i have looked through my diary and will give you an indication as to zachariah development, some of them are spot on and some are delayed
reached for toy (based on noise) 6+month
smiled 4+months
laughed (through physical contact only) 4+ month and very rare
rolled 6+
sit 6+ (not for long)
crawled 8.5+
trying to stand he's been doing for about a week
cooing 4 + but still nothing recognisable, no ba da ma etc..........

however some of these things i honestly think happened because i was constantly doing things with him, like to roll i used to lie him on the bed, sing 'roll' and then turn him over going back and forth. sitting only began when i ignored advice on not putting in highchair until he can do it (as he hated bouncer) and it happened soon after that. cooing well we are constantly talking to him, and i tend just to copy his noises even if we're in the supermarket, i get the strangest looks but the point is we can't just flash them a smile so have to interact somehow. As for toys he really isn't intersted except in his teether rattle, but really he only wants toys to stick in his mouth since teething started. i am sure you have found lots of ways to interact i'm just trying to say that it didn't all come easily to zachariah so please please dont think it wont ever for you.

good luck with the mri he will be fine, it is scary but you will be ok, the fasting is the hard part because you cant explain it, i assume he's having a general at 8 months, i was allowed to go in while they gave him the gas and then was left to wait about 45mins for his return, he had a dry throat and a little confused about why his mum wasnt holding him when he woke up but once back in my arms he was ok just sleepy no vomiting etc. thinking of you

oh also i dont know if this helps anyone or maybe its common knowledge but i heard because of visual problems we are best to stick to one word for things eg: milk instead of, milk/drink/bottle/etc so they begin to understand/link what each thing is they hear / feel

Hello mommy's

My name is Marieke, I'm from Holland and I have three childeren. My youngest one, a boy named Kamil, appears to be (almost) blind. When I was looking for information about DVM I ended up on this forum. In one evening I read all your stories and I recogniced so much of it!
My son was born on the 23 of march. Tomorow he will be exactly 6 months. Shortly after he was born the midwife noticed he had hypospadie (his penis isn't correctly shaped) he also had strangly formed ears. When he was 2 days old he was seen by a doctor specialiced in childeren (sorry, can't find the right word..) and he has had an echo. His organs appear to be fine. His penis needs surgery but appart from that he seemed to be fine. They did notice some mild dismorfes in his face (broad nosebridge, the ears) Because of all this they adviced us to run a genetic test.
Whe decided to wait with that test and see how he developed first.
After a few weeks we (and other people as well) started to notice Kamil never made eye contact. When he was 4 months I was really worried because he didn't seem to react at toys whe held in front of him, almost never looked at us or anything else. Sometimes he did seem to follow with his eyes but I really started to doubt if that was by accident.
Whe saw an opthomologist (sorry if my spelling is incorrect) the week after I spoke about it at the buro whe go to every month with our baby's. In Holland whe call this a 'consultatieburo'. The doctor there shared our concerns.
The optomologist and the eyedoctor checked his eyes, they where normal. They also saw some response when they made him follow a light, but he did not react as he should. Whe where told it could be dvm and made an appointment for 6 weeks later. We where also told that if it wasn't dvm it could be a neurological problem and further test where required. In those 6 weeks we didn't notice must developedment ourselfs. At some point I gave up trying to make him follow a toy I moved before his eye. When we saw the optomologist again she thought she saw some aproval but not much. Whe are now waiting for Kamil to get an mri. He will have that done on 21 october, and next week whe have an appointment with the pediatric. I want to know if there is a relation between the hypospadie, the dismorfs and him appearing to be blind. I worrie if there is more....
He does react to (bright) light though, especially sunlight. Also his pupils react to light, but slower than normal. Another thing I have noticed is that he rarely blinks. Does any of you recognice that?

Sorry for this long story, but it feels so good to share it with mothers who know what I am talking about and what it feels like. I hope for all of us that our childeren will be alright. We will love them no matter what and we'll give them all they need!

I hope to hear from you soon.
Greetings, Marieke

Hi Marieke,

Sorry to hear of another family going through this, but welcome, and feel free to spill everything on here. We all know exactly how you feel.

Your case is slightly different to mine because of the other problems you mentioned, but my little one also has normal eye's, reacts to light and has sluggish pupil reaction. I do wonder if all the stuff you mentioned are related or just coincidence. Have they advised an ERG, because some of your symptoms do sound like what Leo has been diagnosed with, Leber's Congenital Amaurosis?

CJK, I also fely\t that Leo seemed to be spending most of his life laying flat on his back, but with time he seems to be progressing. He is 8 months and only in the last month did he start rolling backwards and forwards. He can sit but still topples over after a minute or less. He is showing no signs of crawling yet, and refuses to take weight on his legs. Every baby is different, even if they are sighted, its just with our situation its more noticeble and easy to think its somehow related to our babies low vision.
Somehting i've been struggling with lately is the feeling of not having the same relationship with my baby as other mums do with their sighted babies. There's something about the fact that they arnt communicating with to us with eye contact, making it hard to know when they want your attention when playing etc, or they are fine amusing them selves (hard to explain, I hope u understand). Do you know what I mean?

Anyways hope you are well and your babies are getting along wonderfully

:-) Hannah (and Lovely Leo)

hello maurike, i am so glad you have found us, but so sorry that you are going through such a difficult time, i wish all the best for you, your family and kamil (i love that name by the way it's lovely) like leos mummy said it must be difficult trying to decipher if there is a connection or pure coincidence but with any luck more tests will come up with a useful answer. we're all here to offer support /shoulders to cry on/ or simply just someone to chat to. welcome

cjk how did the mri go? thinking of you all i hope it wasnt too traumatic for you or the little one. and of course that you recieve good news from the test results

leos mummy hi, i don't really know what to say about the connection between baby and mum as i have not really been around many seeing or otherwise, but i do agree i sometimes feel that i'm 'missing out' on something. probably starts when you know they should be looking at you to feed and then copy you and laugh at your stupid faces or dances or whatever but i think we all just have to muddle through the best way we can. there are days where i feel zachariah just stares into space waiting for something to spark his interest but he usually snaps out of it if i start speaking to him or bouncing him. hard work aren't they i think in our case attention seems to be required with a frustrated cry but as zachariah gets older he will find better ways to be heard / understood.

i hope you are all doing well, thinking of you all

Hi Leo's mum and waiting4baby,

Thanks so much for your replys and warm welcom! I'm glad I've found you too. Today Kamil is 6 months (time flyes!) and appart from his visual problems he's doing fine. The other things he has do not bother him. His ears are not really weird, just a bit of a fold in it but you must really know to notice. And for the hypospadie, he can pie and thats all he needs to do with it now.. :) I hope surgery will make it normal looking and functioning.

I have a question for all the mums but espacially Leo's mum; do your childeren follow lights (like the light from your mobile phone)? Kamil does, I hope that is a good sign! I can't find much information on Lebers in Dutch. Maybe you can tell me a bit more about it?
I'm hoping to get more anserws soon. He's a really sweet boy, very content en cuddly. My two others kids, Terra 6 years old and Ravi 5 years old are crazy about him. I've told them that their brother can't see and that we hope that it can be fixed or resolve. They where so sweet, Terra said that she would buy him a wheelchair and take him where he wants to go. I told her that blind people could walk too, but she said that this would be easier for him... He can count on the help from his brother and sister that's for sure!

Take care,
Marieke

Marieke,

Yes, Leo can follow light, and funny enough the first thing I noticed he could do was follow my cell phone light perfectly, at first only in low light but now in all light. The last time I took him to a opth (when I was visiting my mum), he said he doesn't follow the light from the little flash light they use, and I was quite disheartened but I know that I am the one who spends all the time with him and my whole family and freinds have seen what Leo can do. He also follows some objects like shiny things or toys that are bright in colour. He seems to need things to be in contrast, like black on white etc. He shows no interest in things like TV because I think there's just too much going on at once, if you know what I mean.
As for Leber's, it is a genetic condition that both parents must be a carrier of (note that there is no family history of eye problems in either of our families, so it was quite confusing at first. Apparently it is common this way, and the condition doesn't show for generations)
Symptoms are: not following things when they should be able to, normal eye structure, sluggish pupil reaction, and an abnormal ERG.
The only definate way of diagnosing LCA is through genetic testing, of which there is only a few Lab's that test for it (the one Leo's DNA was sent to is in Estonia, and we are still waiting for the results). There are 12 discovered gene mutations so far, all with slightly different characteristics.
LCA is classed as a degenerative condition but in lots of cases eyesight seems to stay the same through out life. Vision can range from completely blind to light perception only to maybe seeing outlines or shadows.
The bad news is that LCA is one of the worst cases of congenital blindness, but the good news is that they're already doing clinical trials on humans and they say it can now be classed as a 'potentially cureable condition'. At the moment they are doing the trials on the RPE65 gene mutation, and they've done it on 19-22 year old's where its been noted as somewhat effective and safe. I hear that they are now doing it on 8 years old and will soon be moving onto infants (the dr's say they are very sure that the results will be better, the younger the patient as the disease has not yet damaged the eye).
I hope I haven't bombarded you with too much info! Sorry I tend to babble when writing it down because when people ask in person I find it quite hard to explain.

As for my Leo, he's a poorly boy and has a nasty cold bless him :-(

Hope everyone is well

:-)

Welcome Marieke! I am sorry that you are going through this as well but it sounds like you have a sweet little boy and a wonderful family. I've never heard about there being any connection between any of the other issues and the eye problems. It seems like they might be completely separate but who can say -- it is all such a great mystery. My son doesn't seem to follow light at all, nor does he track anything yet. He is just over 2 months.

waiting4baby -- that is such a cute picture of Zachariah!! He is adorable and what a smile. :)

hannah - I know what you mean about feeling as if you don't have the same relationship with your baby as sighted babies. I have felt that ever since the beginning and it is hard. Sight is just such a huge part of how we connect in this world and it's difficult to adjust expectations when we don't have that element -- particularly when they are so young and can't talk or express themselves. We definitely have a harder road, but it sounds like everyone is finding good ways to deal. And I can only hope that things will get easier with time.

As far as my news -- I haven't learned much. We are still waiting til the end of October for another exam with the opth. Disappointingly, though, I found out that they don't even do ERGs until about 6 months -- apparently there is only one woman in the U.S. who does them earlier. I am very frustrated as it means that I won't have any answers for many months. I was so hoping to at least know more soon. The doctor is still optimistic that it is DVM and says he has seen cases like ours that resolve, but so many of the signs point to Leber's that I am feeling discouraged. Trying to keep my spirits up, but frankly the waiting is the hardest part for me -- with a diagnosis I feel like I could move on and accept whatever comes our way, but otherwise I just spend all day alternating between worrying and hoping.

Hannah, I'm also just wondering what you did to get the Leber's gene testing from Estonia and how long it takes. Is this something your doctor did or did you set it up yourself? Any info is greatly appreciated...once again things are slow here in the US -- apparently the lab in Iowa that tests takes 8 months.

Hi there,

Leo's mum, thanks for the information! It's very helpfull. Monday we go see the pediatric and I will ask him for the ERG. I'm still hoping that it will all pas and that it is "just" DVM.
How is Leo doing, is he feeling any better?

I found out that there is a doctor in Holland who runs genetic test for Leber's, she's specialiced in this subject. So maby this will make it a bit easier for us to get Kamil diagnost.

How are all the other mum's doing? It's so hard to wait and feel like there's nothing you can do, don't you think?
I try to enjoy every moment I spent with Kamil. Luckely he's very cudly and sweet. I also started babyswimming. He loves the water so that's real qualitytime! I don't want to worrie all the time but it is difficult.
How are the daddy's coping with it? My husband is worried but he can let go better than I can. He's not thinking too far ahead while I am worried about the futer, school, friends, sports etc. All the things his brother and sister do, he maybe can't.... That thought makes me sad!

Take care!
Marieke

[Modified by: motherof3 on September 24, 2008 10:59 AM]

done twice oops!

[Modified by: waiting4baby on September 24, 2008 04:41 PM]

thankyou milos mum i love the pic too it's one of my favourite ones.

i would not worry about the erg not taking place until after 6 months as i heard if they are done younger than that they are not particularly accurate so for best results they wait.

mumof3 zachariah never followed lights to begin with although sometimes i would wonder if he was looking, like hannah said, mobile phones seemed to be the key for us and he squinted in sun light. so we did get reactions if bright light but as for tracking it, no chance!

husbands, well mine wanted to bury his head in the sand. in the beginning it was very hard and i had to be the strong one. i wouldn't call it denial but it's sort of ignored and theres a full belief that he WILL see. i prefer to be more cautious as less room for heartache. it's hard, and i found family took it a lot harder than i expected but as we've watched him grow we've all just accepted it as part of him that makes him ourv special zachariah

leos mum hope you dont mind theres a new thread 'eyesight' where a mum is asking about glasses in babies i've mentioned your name to her although obviously its different perhaps her hearing from someone whose baby is doing fine with them will put her at ease

hope all of you are doing well and the little ones of course. thinking of you all.

cjk, how are you doing, how was the mri?

[Modified by: waiting4baby on September 24, 2008 04:39 PM]

i just wanted to add about not being able to do things i think to be honest they will surprise us by just how much they can do, it will just be gone about differently.

i actually wish that zachariah had been my 2nd so that he had an older sibling to hold his hand and look out for him, it will be harder to ask of a younger one. i think as long as we dont wrap them in cotton wool (too much) they will learn what they can and can't do, as long as you're not told you CANT do something i think anyone tries to give it a go ... we just have to keep more of an eye on them that's all

I know your right waiting4baby, but it breaks my hart that nothing will be without questions as for my other two. Hé is lucky though he has a big brother and sister to help him. I want nothing but the best for my childeren as does every mum. And I know blind childeren don't have to miss out on anything but I'm worried that my son might be mentally challenged too. So that will make it more difficult in life for him.
But I'm glad he's my boy, because me, my husband and his brother and sister will do everything we can to make his life wonderfull. So far he's enjoying every minute of it!
Does anyone of you know anything about Cerebral Visual Impairment?
I think this could be what Kamil has. Maybe it's interesting for other mums to look it up? the opt also mentioned it.
Sorry if my English is incorrect, but it's a difficult subject to write about when it's not your own language. I hope you can follow me : )

marieke

hi maurike don't worry abuot your english i think you are doing fantastically, as long as you feel you are able to say all you want to.

i understand that you are worried about brain damage as well but even so i am sure he will surprise you with what he can do, especially with the help of his older brother and sister. i do not know much about cerebral vision but i THINK that one of the mums on www.justmommies.com in the visually impaired children section has information on it. i sometimes use this site and its a great source of information but i find that people dont seem to respond quite so quickly. worth a go though.

i hope everyone is doing well and moving along with the test etc at quick speed. we've yet to have an appointment with the neurologist and our next appt with the opth is in mid-january as they are just checking up on him. just trying desperately to get on with our lives come what may.

Hi, I hope everyone is well. I just wanted to say hi as I am thinking of you all.

As usual there are so many ups and downs with this waiting. For me, like waiting4baby said, it is easier to believe that Milo is blind. And if it turns out that he gets his vision back then it will be a wonderful miracle. But I feel like I need to move ahead. I have signed up for Early Intervention and they will come on Monday to do an evaluation. I think this is something similar to Vista in the UK maybe?? Not sure, but it makes me feel good -- like I'm doing something that will be constructive for Milo. Also, I joined a support group for people and parents with LCA. Hannah, you might be interested -- if you go to groups.yahoo.com and search on LCA it is the first group to come up. They are wonderful at that site and it is really good to read about adults that are leading full and wonderful lives even with blindness. There is also another smaller group called Blind Babies that may be of interest.

Also, it's been a good week in general. Milo is smiling more and more each day and for the first time I feel as if he is responding to specific things. A friend gave us a toy that makes noises and he will almost always smile in response to it. Plus, he is cooing a lot -- making a lot of "ah goo" and "ooh ahhh" noises that are new for him. I am thrilled. He is still pretty lazy about lifting his neck, but it seems to be fairly strong so hopefully that will come along eventually.

Oh, also, waiting4baby -- i spoke to my opth earlier in the week and he said he has personally seen sight return from DVM happen as late as a year and has heard of cases that go even later. Just wanted to pass that on.

Thinking of you all...

Jodi

Hi there,

Do your childeren cry with tears and do they blink frequently. Kamil doesn't but when I mention this in the hospital they don't pay any atention to it. But I think it's weird. I also notice that he has a sort of shiny layer over half his eye. Just below his pupil. The opth. hasn't mentioned it. I will ask the pediatrician about it tomorow.

Sorry for all thes questions, but I'm looking desperatly for anserws. It takes so long! I'm glad I can ask you. It really helps to talk about it with you, you know how it feels and how frustrating it can be....

Marieke- Yes, Milo cries with tears and blinks. But I have looked at him and thought that he definitely blinks way less than I do -- don't know if that is a baby thing. Also, not sure what you mean by the shiny part of the eye but I don't think I've noticed that. Good luck with your next appointment!

Hello All,

I have some news about my Maia(8 months now).
It seems that she is seeing something : She started 4 weeks ago to follow a little bit the people arround her, and some toys. It seems that in the last 4 weeks she improved. Now she is looking to us, she is following us arround the room, she is looking to some toys and to her hands.
But still she is in trouble with her head which is not very stable, she is not sitting by her own, she is not crawling, she is missing coordination eye-hand means that she is not grabbing toys or something else, only if she is feeling the toy touching her hand.
Otherwise she is eating just fine, she is happy, she is making a lot of noise but stil she is not making siblings like dada, gaga, etc.
And another thing - she doesn't like to be held in our arms with the face towards us(she is pushing herself away), if we held her with the face against us than she is fine.
And she wants to stand up and to make steps all the time if we are keeping her of course because otherwise she cannot standup by herself.

Me and my wife : we are somehow happy but still scared and worried about the issues that I mentioned about.

We are working a lot with her(some exercises each day) and also she is under a treatment each month 10 days with some brain vitamins and proteins. This treatment was precribed by some doctors here in Romania. In Germany, the doctors said that there is no reason to give her a treatment. Now we really don't know what do to. To continue this treatment or not. Our Maia is developing some sight because of the treatment or because this is her way.Dis she had something wrong or she is just delayed.No doctor said to us something clear. Only that they cannot say that there is someting or there is nothing. All the tests came clear.....but you can see that she is not developed like she is supposed to be at her age.:roll:

Hi everybody. Claudiuf - wonderful news about your daughter, I'm so happy for you :-).

And MilosMom - thanks for sharing the information about DVM later than 6 months. My son is 8 months now and it is good to hear that we can still hope for DVM.

In the meantime we are waiting for the results from the MRI. Hopefully we will get the preliminary results this week, otherwise we have to wait until October 8, when we will se the neurologist.

I feel really low today. The uncertainty about our son's vision has taken over everything and we can't go on with our life until we get a diagnosis. I wish we could do like you Waiting4baby and start planning for a life with a visually impaired child - but what if there is more? If it is just his vision i would feel so relieved. What if there is more? I'm so worried about brain injury that it is almost all I can think about right now.

And I feel bad that I can't enjoy life the way I should. My son is so happy and content. He smiles a lot and Saturday night he couldn't stop laughing when I made him jump on my lap. I think he has started some crawling-attempts, and finally he seems interested in exploring things with his hands. When I read the paper and he sits on my lap he crumbles up the pages and tries to put them in his mouth. This is a step forward, definitely.

I also have a 2 year old daughter who is just wonderful. She loves to play with her brother; he lies on a mattress and she brings toys and pillows and pretends that it is a boat.

My son blinks normally I think. As for crying with tears - he almost never cries! But I have seen tears, I remember I noticed 3 or 4 months ago.

Sometimes it looks like my son is trying to fix or focus on an object. Then his eyes get crossed and it looks like he gives up. Do your children get cross eyed sometimes?

hi too all,

So good to hear maia is making progress! Hope she will keep developing like this Claudiuf.

How are the others doing? Some days I'm doing fine, other days I can't stop worrieing. The appointment with pediatrician didn't give us much more information. We just have another doctor to add to the list.
Fysically Kamil is doing fine, he's growing perfectly, his hart and longs sound fine, he can roll from tummy to his back, he rolls from his back to his side, he can keep his head up and he can sit with a little support. So that's all good.

When I mentioned the funny looking shiny layer (like a contactlens that has slide down the eye a little) I see in his eyes to the pediatrician she looked and she said she good see what I mean, but she couldn't tell what it was. She told me to wait and ask the opth. in november when whe have our next appointment. But I don't want to wait this long.
So I made an appiontment with our housedoctor (how do you call him?)
to get an second oppinion in a academic hospital. I must be shure it's nothing serious, but I still think it's not normal, especially because of the rarely blinking and not crying tears.

Am I an overconcerned mother now?
I also asked if Kamil could have Leber's and if he could be tested for it but she didn't take it very seriously. She had never heard of it and because I heard about from some other mother it didn't mean that Kamil has it..... Whe had to discuss it whit the clinical geneticdoctor. I'm trying to get an appointment there too. She will do the blood testing.
I'm glad I only work two days a week it all costs me a lot of time, but I'll do everything I can to find out what's wrong with my son and how I can help him.
I've also filled in forms for visio, an organisation that helps blind and poor sighted people at home, at school, etc. I hope they can be of any help.

Another question... I 'm looking for some nice toys for Kamil, I could use some tips!

Sorry for my long message again, but it's so helpfull!
I'm very curious how you are all doing too, hope to hear from you soon!
Take care,
Marieke

cjk,

I really know how you feel. I feel the same, it's keeping me bussy all day!
Kamil doesn't seem to get his eyes crossed. But he almost never focusses on anything either....

I hope you get the results on the mri soon! let us know if you do.

I admire the way most off you are dealing with this! I just can't accept that Kamil is blind untill whe know for sure (not that it would make him any less!) You are all so strong, I'm only trying to be, but find it very hard.
Thanks for sharing your storys.

Marieke

Hi CJK,
It is great that your baby can respond to objects put infront of him. It is good to hear that he is making progress.

William is nearly six months old now. Progress seems to be very slow. He can track objects and will smile in response to sound but still no response to our faces. He will copy the odd sound if I blow a rasberry or say gee. He seems to look at the light when its on and will look around sometimes, but other times he will just sit in his bouncer, high chair and not make a sound.
He will sometimes 'look' at his hands and often go cross eyed when they are close up to him.
He hasn't reached out for any toys yet, we are still waiting.
Our next appointment is in mid November for a check up. Its all such a waiting game.
As for crying real tears, we haven't had any tears yet. He doesn't seem to cry a lot, only when his teeth are hurting.
Just thought I'd let you know where we are up to.

Hi Ahh: I don't think my son sees the objects put in front of him. It is when I put toys in his hands, or when he feels the structure of the newspaper that he gets interested in touching or exploring them. No eye contact whatsoever, no following light. Sometimes only briefly he seems to react to black and white things but next time he is not interested.

Hello all

Claudiuf I am so pleased to hear that miai is making such progress, how wonderful for you.
Milos mum thankyou for telling me about the progress at 12months, I have also heard this and even as late as 18months, I think we have until 2 before it becomes very unrealistic!
Motherof3, zachariah never cried tears in the beginning as it takes a while for a babies tear ducts to develop, I don’t remember when he did cry tears but it was certainly a couple of months after birth. Also could the shiny layer be a cataract? I don’t know if they have already checked that but I do know the earlier its sorted the better.

Please all of you do not give up hope, I am in no way preparing for a life with a blind son, I am just not preparing for a life with a normal sighted son either. I know in time I will have to do the research and get my head around all of this. BUT. like all of you know, it is very difficult to just get on with your life with the endless visits to hospitals, drs and house calls etc.

Personally I think we are all doing fantastically, not one of us have said we don’t love our children, and we are all on sites like this because we are desperately trying to get our heads around it. We play with our children and we are doing everything in our power to help them, don’t be so hard on yourselves. Every step zachariah makes I am so proud of him and also proud of myself as I feel I have helped him get there, you should all be proud of yourselves too as each one of you is talking about what happy content little babies you have.

Look after yourselves and I really hope you all see some progress or get some good news very soon.

twice again! sorry

[Modified by: waiting4baby on October 01, 2008 02:24 PM]

thanks!
You're absolutely right! We are doing great and our childeren are happy and loved, it's not easy but we are all doing the best we can and maybe even more!
Thank you for pointing that out.

Marieke

no problem

just thought,... you were asking about toys

really in the beginning zachariah wasn't really interested in anything and i think a lot of this is just because he was too young but things i've found good are

mirrored disco ball - this was one of the first things he appeared to 'see' due t it being shiny and reflecting light onto his face. i used a rainbow one for more colour but dont know that it really mattered

http://cgi.ebay.co.uk/2-Inch-Rainbow-Disco-Mirrored-Ball-Ornament-FREE-Ship_W0QQitemZ5676488802QQcmdZViewItem?hash=item5676488802&_trksid=p3286.m63.l1177

squeaky/crinkly dragon - visualy this did nothing but he did get very excited when he heard the squeaky noiuse and enjoyed making the crinkly sound

http://www.twenga.co.uk/offer/20872/8762989574585440865.html

(this isn't the dragon i got but gives you an idea.)

elephant mirror - this was good for everything they tell you to use for stimulation as it was noisy had flashing lights/mirror/ and movement also great for letting him sleep when he cried at lack of noise

http://www.walmart.com/catalog/product.do?product_id=4241554

i'll see if i can find more later for you

Hi all!
Today we got the preliminary results from the MRI by phone, and everything seemed to look perfectly normal :-). SUCH a relief! It's all we've been thinking of for the past week.

Next week we will see the neurologist and learn more about what the next step will be. They will also compare the x-ray pictures of our son's brain with pictures of a normally developed brain (at 8 months) to look at the maturation.

We celebrated with a glass of champagne :-)

woh! That's good news cjk.

Where having an mri planned on the 21 this month, I hope whe can have champagne too....

oh cjk that is fantastic news, i am really happy for you and your family, that must be such a load off your chests. really hope the neurologist appt goes well and he comes up with some handy information/ suggestions

good luck mother of 3 for the 21st really hope it all goes just as well for you.

hope everyone is doing well, thinking of you all, take care :\

Hi CJK, its BRILLIANT NEWS that the MRI was normal! What a relief for you. Its one less thing to worry about.

Mother of three, I've got everything crossed for you for the 21st. Please let us all know.

CJK, that is wonderful!! I am so glad to hear your news. Marieke, we will also be having our MRI on the 21st so I will be thinking of you. I have to be honest, I am really terrified. Of course, I will love my son no matter what happens, but I am desperately hoping we are not looking at any issues other than blindness. Please keep me in your prayers...

Hi,

Molismom, I'll be thinking of you too! When will you get the results back? Whe are having an appointment with the neurologist on 28-10. He will show us the results than. I must say I don't really know what to expect. One day I'm confident it will be alright, the other day I'm worried sick. Appart from the blindness Kamil is doing well, so that's reasuring.

Marieke

CJK, great news! Congratulations.

Milosmom and Motherof3, i'll be thinking of you both on the 21st, good luck with that, i'm sure it will be fine.

Quick update from us. Leo is doing great, i'm really impressed with his development this last month. He can sit for a length of time, is rolling all over, babbling ALOT, and finally taking some weight on his legs. Really proud of him, he's just so clever. I'm amazed everyday with him, his co-ordination with his hands is unbeliveable, he can pick up small things and find's what ever is in his space with ease.

Hope you are all well, and your little ones are thriving.

:-)

Hi all. We had an appointment with a neurologist on Wednesday and we thought that he would give us the detailed results from the MRI and let us know what the next step will be for us. But he hadn't even looked at the pictures and had no new information.

The eye doctor has nothing more to tell us and the neurologist has never heard about DVM or whatever it is that our son has. Such a disappointment. We really feel that we need to get started with habilitation. Our son is almost 9 months and I wish someone could help us get information about how to help him develop, communicate etc etc. We feel all alone and I'm so glad that this forum exists.

Waiting4baby - are we almost in the exakt same situation now? Nobody has a clue and all tests have been done? Have your son taken blood tests and chromosome tests? What will your next step be, do you know?

Hi CJK,

Just wanted to let you know I'm thinking of you. I can understand your frustration! Where not having all tests done yet. Kamil is having an mri next week and where going to have chromosone testing and bloodtesting done begining of november. So whe're still waiting for results. But I can imagine you are feeling helpless right now. Is there a pediatrician you can ask for further information? (have you ever been to one?) Whe have been to one last month because whe tought it would be usefull to have one doctor who is "in charge" and tells us what steps to take and who communicates with the other doctors (clinic genetic, neurologist, eyedoctor... etc.) She will see Kamil again in december to follow his development and if necesary she will send him to a physiotherapist or any other therapist he needs.
Maybe you can see one too? You have so many questions and someone needs to anserw them.
I can't believe how you're neurologist reacted! :\(He should have taken this much more serious. He should know how important this is for you as parents.
I hope you'll find someone who can help you with this.
Let us know!

Good luck,
How is everyone else buy the way?:\)
Marieke

milos mum and motherof3 :good luck with the mri i hope it goes well for you and your little ones
leosmummy: i'm so glad leo is doing so well
cjk: i'm so sorry to hear that the neurologist wasn't much help to you it certainly does nothing for the frustration. it does sound like we are in the same situation, zachariah is 10.5 months now and as far as i can tell the dr have done as much as they can/intend to do. i am still waiting for a follow up for the neurologist since seeing him after the mri, the opth we've been seeing isn't checking on zachariah again until the end of january, we have been referred for a second opinion but i've yet to hear anything. he is meant to be having a hearing test but i have been told it's just to say they've done it as we really don't think there is any problem there. As far as i know we are not having any blood tests done, there has been no mention that it could be anything but dvm which is great but at the same time 10 months on very frustrating.
i have to say though i think zachariah is beginning to improve, i wouldn't say for certain but he really does seem to grab at things with far too much precision, not all the time though, and there is still no face recognition. i am beginning to wonder if he can see just from the corners of his eyes only. i haven't quite worked out the pattern for what he does visually but am trying to see if i can work out what the drs appear to have 'missed' if that makes sense. do you feel there has been any improvement with you yet?

best of luck to everyone may our los continue to do well for themselves

Waiting4Baby - I keep my fingers crossed, wow, maybe this is the breakthrough you've been waiting for! Have you done VEP (Visual Evoked Potentials) lately? A VEP would surely let you know for sure if Zachariah's sight has improved. We have done VEP twice and will do it again in a month.

Hi All,

CJK, what did the VEP entail for you? Im just wondering because Leo had an ERG but it wasn't like what i'd read it was going to be if you kwim? He just had lots of electrode wires stuck to his head and then had a light flashed above his head. Have you had that??

Thanks
Hannah

Leo's mummy:
Our son has had VEP and ERG, and they did it at the same time. They put electrodes on our son's head, and they also put one under one of his eyes. The electrode under his eye somehow was used to measure the function of the retina (ERG) and the other electrodes was used to measure the signals that went from the eyes to the brain and back (VEP). I think they measured how fast the signals went, and next time they see if they go faster. Hmm, no doctor's language here, sorry ;-)

Hi everyone,
William is six months old now. Just recently he has made a little bit of progress and has actually started to smile at people when they are close up to him (althought not consistently). Obviously we don't know how much or what exactly he can see but it is a major breakthrough and we just hope he continues to improve. We go back to the hospital on Nov 14th.
Williams physical development is delayed. He doesn't lift his head much when he's on the floor, roll and is nowhere near to sitting up. He also doesn't put his feet down to stand, he just bends his legs.

I wondered if anyone elses baby is or was the same? Is it a symptom of or related to delayed sight? We took him to the doctors and he told us to come back in January for a check up. I would be so grateful if anyone could share their experiences relating to physical development.
I am thinking of you all.

Hi ahh,

Leo was exactly the same. He's 9 months and only started to sit from 7 months. He rolled properly from 7-8 months and has literally started putting weight on his legs in the last couple of weeks (something I was concerned about but it came with time). I completely understand that it can be frustrating, but I do think its vision related as they just dont have the same motivation as sighted babies.

Hope you're all well :)

ahh, I'm so glad that you asked that question -- I was beginning to worry about that myself. Milo is only 3 months but really, really hates tummy time and I just can't get him to pick up his head. He also doesn't really push down on his legs when I hold him in a standing position which I guess they should start doing about now. He has learned to roll over from front to back by getting his little legs under him and pushing up until he turns over but apparently most sighted kids learn to roll by pushing up on their arms first. I'm glad to hear that other non-sighted kids are having similar issues.

Marieke, I am thinking about you and Kamil and keeping my fingers crossed for your MRI tomorrow. There was a cancellation and we ended up having Milo's last Thursday. He was a bit fussy beforehand but went right to sleep with the sedation and was fine for the procedure. We probably won't be able to get the official results from our neurologist for several weeks (arg!) but I have a med student friend who pulled in some favors and had a radiologist look at it. The good news is it seems that there is nothing glaringly major that is wrong which eased our minds a bit. But that was just a quick overview, and we won't really know details for awhile which is very frustrating. You are lucky that you already know when you will see your doctor!

Thinking of you all and hope all is well with your beautiful babies.

hi

whe had the mri today. Kamil seems to be doing fine, no complications from the sedation, just a little sleepy. I wish we could get the results right away, but luckely, we "only" have to wait one week. Milosmom, what a relief it's done isn't! So glad to hear that it seems to be alright with him, but it must be terrible to have to wait for the final results so long.

Kamil is almost 7 months old now and he also seems to develop slow. He can sit with a little support, he can roll from tummy to back, not from back to tummy, he can keep his head up lying on his tummy (but not verry long) also his head is a little shaky when he sits. Most of the time he is laying on his back or sits on our lap.
I think this really has to do with missing out on visual information (stimulation). I hope whe'll get help from visio (experts in blind and shortsighted people) soon to stimulate him with special exercises.
I'll let you know soon as I know more.

Take care!

ahh, good to hear your lo is making progress!
Even the little steps are milestones for us right?
I hope he keeps developing like this.

marieke

[Modified by: motherof3 on October 22, 2008 08:47 AM]

Thanks for sharing experiences about physical development. We'll just have to encourage him to lift his head, roll and sit. I hope it will develop in time, I don't care if its late!
I think I've made the mistake of thinking William can do more than he can. It's so inconsistent, I really thought he was responding to my face, but today, yesterday he hasn't responded at all.
I will keep you posted.
Glad MRI went ok for Kamil, glad you don't have to wait too long- a week is long enough. Fingers crossed everything is ok for you all.

[Modified by: ahh on October 22, 2008 06:05 PM]

Good news - I talked to our neurologist's office this morning and the results of the MRI were normal. We were so lucky that they got the results back so quickly and I am so relieved!!! Tonight we'll have a glass of champagne to celebrate just like CJK. Marieke I am sending good thoughts your way for the same result.

ahh I wouldn't discount that William may be responding. Just because he doesn't do it 2 days in a row does not mean that it is not happening. Sometimes it's 2 steps forward, 1 step back. I remember I was discouraged because Milo started to roll over from tummy to back but then wouldn't do it for about a week. But now every time he's on his tummy he rolls over. I think it takes their little systems awhile to process the things they learn.

Thinking of you all...
Jodi

Milos mum,
Its brilliant that the MRI was normal. You must be so relieved. Enjoy celebrating!

Milosmum, that's wonderfull news!'What a relief!
I am so nervous for tomorow when we'll get the results. I must force myself not to call the hospital and ask if they can tell me anything yet.....
It's going to be long day....

Can anyone tell me more about early intervention for your lo's? Do you feel that it is usefull and when did you start with it?

Keep you posted! Marieke

Hi there,

Whe had the results from the mri today. Good news! There's no braindammage or active brainproblems found. The neurologist pointed out that it was good news, altough there where two things that where different then normal, first is that the bridge between the left and right brainhalf is thinner than normal and second is that the brainchambers at the back of his brain are slightly larger then normal. But this is of no further meaning and will have no consequenses. He showed us the pictures (wow!) and explained it very clear. He told us that everyone is different and that the results of an mri are so specific and detailed that there's always something that's deviating. But it doesn't have to be of any meaning.
Fact is that Kamil has more abnormalities (hypospadia, mild dismorfs in his face) so there could be a flaw in his genes, a syndrome. He will have genetic testing done to sort that out.

But for now I'm so relieved!!!!! No serious brainproblems! pfffffffffffffff
We'll see what the futher brings, I am a verry happy mother today!

Love Marieke

Marieke - what a relief, I'm so happy to hear the great news!

So strange that all MRI:s are normal and that our children still don't seem to see. Such a mystery.

What's new here? No difference really, our son remains the same. Content but very passive and quiet. We feel that we really must get started with some kind of habilitation and learn more about how to help with social interaction, communication and his development of motorical skills etc. Luckily we have a meeting with the habilitation center on Nov 10. And on Nov 18 we will meet with the eye doctor and the neurologist and discuss the next step.

I wonder what genetical tests and chromosome tests can show? I've spent hours on the web searching for rare diseases with blindness but I haven't found anything that really fits. Luckily.

Take care all and keep celebrating all positive news with champagne :-)

Marieke, that is great news -- congrats!! I hope that you can get more info from the genetic/chromosome tests. Keep us posted.

Today we had an appointment with our opthamologist and he basically said that there had been no change at all. Which was disappointing to hear but I kind of knew that already. The next step for us is to get the ERG -- but we may need to wait awhile as there doesn't seem to be anyone here that does them until the baby is 6 months. I find it shocking that in a city as big as New York that this is the case!! We may try to travel to Philadelphia or Boston to try and get one sooner but in the meantime it's just more waiting. Sigh. Something we've all gotten very used to...but so hard to do.

CJK -- I know what you mean about wanting to learn how to help your child grow to the best of his potential. We have something here called Early Intervention and we will be having Milo's evaluation next week. I'm very much hoping that they will be able to help me learn how to help Milo with exercises, etc. Because right now I'm just not sure what the best things to do to stimulate him are.

Thinking of you all...
Jodi

Quote:

[Modified by: motherof3 on October 30, 2008 05:18 PM]

Hello all,

Sorry I've been so scarce, but been a busy bee lately.
Congratulations for all the good MRI news, its such a relief to know that your babies brains are all normal. I think with the brain, its such an important organ that hope could be lost for a cure or treatment if sometyhings was wrong, kwim?

For us, we got the results of the genetic test which kind of confirmed LCA. They found 2 LCA gene mutations, neither of them being the one they are doing the clinical trial on. I was very dissapointed that day, as i'd got my hopes up for the RPE65 gene. Oh well.
As for Leo, he is doing SO well. Im so proud of him and I cant get over just how clever he really is. He still follows certain objects, light etc, but no face recognition at all as he always has.

My flight is booked for the 21st Novemeber to England so I can take him to Moorfields. Hopefully this will be helpful to meand maybe make it more clear exactly waht he can see.
I would love to make a plan so we can all meet up somewhere, what do you think? Sometime in December? Please remind me where you all live so I can try and think of a meeting place.

Anyways hope everyone is well

Hannah

hello everyone i am so glad to hear we have all had the mri results back and each have been consisting of good news, it's also great to hear how well they are all getting on. hannah good luck for moorfields, i'm sorry to hear it's not the 'right' gene but i am sure they will be of great help

well.... we have been very busy recently and so i've not had much chance to be on here, there isn't much news on zachariah atm to be honest although we are spending the next fortnight seeing a new opth somewhere else. the neurologist and the vista, so i am hoping somebody somewhere will have an 'eureka' moment very soon. Aside from the problems with his sight he's doing great and we're just beginning to prepare for his first birthday at the beginning of december which i am looking fwd to lots although goddness knows what i'll buy him as all he seems to do with everything is shove it in his mouth lol, and then of course Christmas.

hope you're all doing well and remaining positive

Hello there,

Hanna, sorry too hear about the results of the genetic tests. But who knows what they can do in a few years? I admire your positive attitude!
I would really like to meet with (all of) you, but I life in Holland so.... Who would like to vissit Amsterdam : )
Otherwise, it's not impossible to come to England. I was wondering if I should take Kamil to Moorfield too. Could someone tell me more about what they specificly do there (and can't do here).

marieke

Motherof3, Moorfields is one of the best Eye hospitals in the world and any new treatment/research is likely to be done there.
Here's the website:

http://www.moorfields.nhs.uk/Home

:-)

went to another opth yesterday for the all important 2nd opinion and we're not much clearer unfortunately.

they've said it obviously isn't dvm type 1 as he's now 11months and that should have been cleared up by 6months
it's not lebers because the erg was normal
but it could be cerebal visual impairment based on the abnormal vep and it could be brain damage that hasn't shown up yet as babies brain is not fully developed so if he's still not sorted by 18months they would recommend doing another mri.

there has definitely been improvement with him as they said there is no question that he can see it's just he obviously can't see properly.
he still looks mainly to the left and tilts his head but his eyes do now sometimes move to the right. they did however notice he never moves his eyes up or down just his whole head (something that i've never actually registered until it was pointed out to me) i am still a little concerned that his right eye looks like it sometimes drifts in but atm they say thats just an optical illusion based on his skin folds around the eye so we'll see.
i also asked if it was possible for his sight to come and go as i sometimes feel he's fine and other days not, they said if it is brain related that that is definitely possible. so roll on the next 8months really!

we have the vision teacher coming tomorrow and i know they will be impressed with him as i think he is coming along brilliantly but we are in the medical words 'an odd case' as at the moment everything is normal so there is no reason for his abnormal sight! tsk!
we've also got an appt with the neurologist later this month so am hoping they may shed some light on it all.

i think though it is becoming clearer to me that whatever is wrong with zachariah will not be discovered until he can sit down and tell us himself as he seems to be a bit of a mystery to everyone bless him.

i hope everyone else is doing well and wish you all the best of luck with all your appts and things that are going on right now.

Hello all,
I'm back again here with some news.
So Maia seems to have no problem with the hearing part, and also with the eyes it looks pretty fine now.
BUT, it seems that she is having epilepsy, at least this is what the doctor told us today. We had to put her into the hospital 2 times in the last month because she had some seizures. So after this morning EEG, they saw something pathological on the result, and because she had 2 MRI tests, both clear, they decided that is epilepsy with unknown causes for the moment, we have to wait and see if something else will come.
This diagnosis + those delayes in development that she has = not so good prognosis, means the brain is affected somehow and is not working properly.
We have to wait.....:\?

Hi.Waiting4baby - I'm so sorry to hear that DVM no longer seems to be a possibility. I guess it will be the same for us. I had kind of ruled out CVI since it seems that most people with CVI have eyesight, but they have other problems with perception, color regonition etc. But apparently it seems possible to be completely blind as well, due to CVI.

Are you ok? How will you cope with this? Will you go and see a psychologist? I feel I would probably need to to that. Until now we have been hoping and we can't keep putting life on hold until our son begins to see.

Will the doctors be able to say for sure that it is CVI? Is there a way to find out?

And Claudiuf, I'm so sorry to to hear about your daughter. I just hope you will get all possible help so that she will feel well again poor thing.

Hugs!

Claudiuf I am so sorry to hear about the news for you but I have heard that children can grow out of epiliepsy and so I wish you all the best, I really hope that you find whatever is going on with her is very minor in the scheme of things.

Cjk, thank you, to be honest I don’t think dvm is completely ruled out, just that it’s turned out to be more complex than they originally diagnosed so it’s no longer basic dvm. I don’t know really, I am told so much my head is spinning and they use all these medical terms for what it isn’t and then what it could be, I’m surprised if I come out knowing anything! I don’t think they can do anything right now they just need to wait until he is older and the brain has developed more before carrying out further tests, I am seeing my original opth again at the end of january so should get some more answers then (hopefully).

It’s funny you ask how I am, thank you. Do you know, I don’t know how it is with everyone else but I have been increasingly disappointed with the fact that not one of the medical professionals I have been seeing has ever even thought to ask how I am coping with it all. They just barge into my house, shake stuff at my son, tell me how I should be looking after him, leave, and then a few days later I get a letter through the post with ‘helpful tips’ on how to play with MY son. In the beginning I felt absolutely terrible and was desperate for support, I went to a few mother and baby groups my health visitor ran, and she didn’t even acknowledge that I wouldn’t tell anyone about my sons sight (I felt some people just automatically assumed I must have done something bad during pregnancy) or stayed apart from others, and in the end decided not to go, I have tbh isolated myself a bit as in the beginning I just found it so hard to explain zachariah’s condition, and then seeing how happy other babies were, I also asked the vista about support groups or similar families and was told there was nothing, they didn’t seem to care that I needed it………..having said all that though, I am fine, I just get on with it, I don’t think I need to see anyone about it but I wish the professionals were slightly more in tune with how it all affects us mums (and dads!). I do know exactly what you mean about putting life on hold though. it is so difficult to know what future you are needing to plan for your son, but I think we just have to accept we’ve got to take each day as it comes. I hope that eventually I will know what is wrong with my son (I hate the not knowing) but until then I am trying my best to enjoy this wonderful little boy I have in my life. I do sometimes wish he wasn’t my first though as I feel it would have been wonderful for him to have other siblings to look out for him too but at the same time maybe it has been better for me, as although I know I am ‘missing out’ on some things, like him as I’ve never had it I’m not really aware just how much.

Hadn’t you said you felt that your son was beginning to see things/objects occasionally? I’m sorry I don’t think you have ever mentioned your son’s name on here. It is very hard but I think from everything you say that you are doing brilliantly, it’s hard and you will have down days but we are so lucky that we have these children and I know we all love them so much.
.
I have now enabled my email on here so if you wanted to have a more private chat feel free to contact me through that (just click the email button) as I know it can be a little off putting having everything kept on a web page. (anyone else is welcome to contact me to if they would like)

thinking of you all

Well, it looks like Milo may be having seizures as well as Maia. I thought we had ruled it out because we had a 24 hour video EEG when Milo was 7.5 weeks but our pediatrician is very convinced that he has something called infantile spasms. The prognosis is really terrible for this sort of thing but I am trying to be hopeful. We have the second video EEG tomorrow and it may go as long as 48 hours which is very stressful. If you could keep me in your prayers I would be very thankful.

Needless to say, I am having a terribly hard time dealing with this. I have been depressed since last week when we saw the doctor. The neurologist is not convinced that it is infantile spasms based on the first negative test and Milo's normal MRI. But I just don't know anymore...and he does have some weird spastic movements that could be seizures. I feel very down.

Jodi

I am so sorry jodi I really hope the eeg goes well and that your neurologist is right that it isn’t infantile spasms. What an awful time you must be having at the moment. You and your family are in my thoughts and prayers and I really hope you get some good news from all of this. The waiting is frustrating but the not knowing is what hurts the most I know. The problem I think for all of us is we are so desperate to come up with the answers to all of this that we read into everything and sometimes we will be right, and sometimes we are just being neurotic. I hope that you have a very good support network around you and wish you all the best.

I hope that everyone else is doing ok and that Claudiuf you get more answers about Maia soon.

Hi everyone,

I wanted to let you know I'm thinking of you all a lot! I hope everybody is getting along with everything. The waiting is the hard part, that's a fact. I notice that I'm more worried some days than others. Everytime I read something about a syndrome, or a physical deviation that relates to the symptones Kamil has, I get allarmed. Some things are just very bad! And some stories are too moving.
I really pray that everybody soon knows what to expect and that it's not too bad.

Marieke

Thank you so much for your well wishes. We just got back from the hospital and the results were good -- Milo is not having infantile spasms. They did say that he definitely has a lot of very active erratic movements and that when he starts to walk he will probably be a handful! :) I am so very relieved -- and much as I wanted some sort of answer I did not want that one. Next for us is the ERG on December 1 and hopefully we will have more news then...

Thinking of you all.

Jodi

oh am so pleased/relieved for you, god luck with the erg i hope you get good results from that too, thinking of you all

Jodi,that's a relieve!

good luck with the erg.

marieke

Hi ALL,

Jodi, really glad to here your news that it isnt infantile spasms. Hope you get more good news soon.

I just wanted to tell you how proud I am of my precious baby. He seems to really have learned to use what vision he does have to his benefit. HE'S SO CLEVER! The condition he has is classed as degeneritive, but the difference from when he was first diagnosed to now is amazing. LCA is apparently the most severe condition of congenital blindness and ranges from no vision at all to light perception to shapes/shadows etc. I feel that I am one of the few lucky ones as he can definately see something. If you hold something like the TV remote for example he reaches out and grabs it instantly. Which in LCA terms is very rare. I've also learned recently that he loves the washing machine, he will sit with me in front of it and just look at it going round and round, giggling at times.

I met a three year old little girl yesterday with LCA, and my God she is amazing. She wanders around the house, plays with toys, rides a bike. You should see her on her jungle gym!! It wasa truly inspirational, and for I think the first time, Im actually looking forward to seeing Leo grow up, as apose to scared and nervous to see the things he wont be able to do. She gave me loads of books and Leo just loves the ones with lots of different feely things, they're made by lady bird so if you can get them they are duffinetly worth it. She also gave me the RNIB brochure for toys, theres so many lovely things for the kids, well worth a look. Apparently they have a website, im not sure what it is and they deliver internationally.

As you can hear, feeling a bit more positive at the moment!!

Hope you're all doing well, thinking of you all and would really like to meet you who I can, and your precious little ones.

:-)

I have had two strange days. Looking at my little boy I see a beautifull baby who develops, slowly, but ok. He's pulling himself to sit when he holds my thumbs and he can keep his had up really well. He really likes it when I practice rolling with him and he's really trying to do it himself. When he lays on his tummy he can roll back. He is also stretching his legs out trying to stand up when he's sitting on my lap.
He's 7 1/2 months now, so that's not too bad is it?
He is such a patient, content and sweet little boy, but maybe a bit too much if you know what I mean. He doesn't seem to scare much either, not to loud noices anyway, but he can hear, I'm sure about that because he does respond when you talk to him and reacts to the noices his toys make, does any of you recognice this? Maybe he's just used to it, his brother and sister do make a lot of noice sometimes : )
Last week I took him to the urologist and he will operate him in 3 months. I'm not looking foreward to it, but will be glad when it's done.
I also spoke to the clinic genetic who will do the bloodtesting (she will do the testing for lca aswell, it took me trouble to convince her, but she'll do it!) During that visit whe spoke about the results from the tests that have been done so far and esspecially about the results of the mri. She told me that she could not find any connection between the hypospadia, the dismorfs and the agnesie corpus callosum.... I asked her what acc ment...
She said that it ment that the bridge between the left and right brainhalf was missing... I almost fell of my chair.. I was convinced the neurologist told us the bridge was small not that is was missing....
This will probebly mean that Kamil will be mentally challenged and maybe it can declare the visual problems.
I called the neurologist and he confirmed the acc. I cryed for the first time in months, I was so shocked!
Thuersday he will call me again because I have a lot of questions about this.
I was just beginning to notice that Kamil starts looking more at my face and toys. He keeps having trouble folowing objects but he starts fixating more and more.
I don't know what to think now......

Hugs, Marieke

Marieke, I am so sorry that you are going through this stress. I hope that you get more answers from your neurologist when you talk more. Kamil sounds like such a lovely boy and he has a wonderful mother and family. And the fact that he seems to be seeing more lately is very good news. I am thinking of you.

Hannah, so glad that you are feeling good after meeting the little girl with LCA. I have to say it gives me hope too as I think that Leber's will probably be the diagnosis for us as well based on Milo's sluggish pupillary response. And it is so wonderful that Leo seems to have some useful vision. I wish it were the same for us but unfortunately I just don't think that Milo sees anything except perhaps light. But my fingers are crossed that maybe something will develop a bit even if it is LCA as Milo is only just 4 months.

Hope everyone else is doing well!

Jodi

Quote:

Hi Jodi,

Stay hopeful. Although LCA is classed at degenerative, it seems that Leo has learnt to use the vision he has affectively. I would say that when Leo was 3 or 4 months he wouldn't follow anything. Then he could follow my cell phone light in a dark room, then a dimly lit room and has just got better and better. As I said he can follow most things, his head and eye movements are somewhat jerky but he knows something is there instantly. The last couple of months we've seen the most improvement, so like I said there's loads of hope for all of us.

Take care
Hannah

Quote:

Hi Jodi,

Stay hopeful. Although LCA is classed at degenerative, it seems that Leo has learnt to use the vision he has affectively. I would say that when Leo was 3 or 4 months he wouldn't follow anything. Then he could follow my cell phone light in a dark room, then a dimly lit room and has just got better and better. As I said he can follow most things, his head and eye movements are somewhat jerky but he knows something is there instantly. The last couple of months we've seen the most improvement, so like I said there's loads of hope for all of us.

Take care
Hannah

Hello all,

I live in the US but came across this site while Googling delayed visual maturation. What a relief to see others going through the same uncertainty!

My son, Joe, is 5 months old. He was tentatively diagnosed with DVM at 4 months by a pediatric ophthalmologist. We have a follow-up appointment next month (when he's 6 months old) to see whether his vision has improved. If not, we will see a neurologist to determine whether there is a lingering problem in his brain.

While we wait for that, I'm concerned that there has been little improvement. The doc did mention that sometimes it's like a "light switch turning on," that they just suddenly start to see and react to things. So a few times I have thought, "Oh here it is, he can see fine!" ... but within minutes he's staring at nothing again.

He does love to look at light. I can't sit near a lamp while feeding him or he will crane his neck all the way around to look at it. I tried holding up a glowing toy in a dark room, and he tracked that left-right, up-down, just as if nothing was wrong. But show him the same toy in a lit room and he looks right past it.

After our last appointment I did some Googling and found DVM referred to almost interchangeably with cortical visual impairment, which led to a lot of info on cerebral palsy -- and caused me to panic a bit! But he sits well and doesn't seem to have any of the symptoms of CP. He was born two weeks late, so prematurity wasn't an issue. He did have trouble breathing at first (he had breathed meconium in the amniotic fluid) but it didn't seem severe enough to cause brain damage. So it's a bit of a mystery.

Anyway, I've just spent an hour or so reading this thread and I'm so relieved to see others going through the same thing. Keep the updates coming -- I'll be eager to hear how your little ones are doing!

Lia

Hi Lia,

Welcom. Sorry to hear you are also going trough this. What you describe about your baby seeing light, but not responding to anything else is verry recognisable. My son is almost 8 months now and it appears that he starts seeing a bit more lately. He seems to be looking at faces now and fixates on toys I hold before him. Sometimes he can also follow them a little.
I hope your son keeps approving aswell, but maybe step by step, instead of "switched on" at once.
Let us know how you and your baby are doing.

Marieke

Thank you, Marieke!

He does sound a lot like many of the babies described here. I think it was waiting4baby who said her son gives lots of gummy grins but does not laugh easily -- that sounds very familiar to me! That, and so many other late milestones, seem to be because he just can't see very well. I hope that it resolves soon and isn't a sign of something more serious.

Did I see that you are from the Netherlands? My ancestors came from Groningen, and I visited your country as a child. What a beautiful place!

Hi Lia,

Yes, I'm from the Netherlands. I live in Noord-Holland (40 min. drive from Amsterdam). Funny you've been in Holland as a child. I love living here. Where do you live?
Funny how all children described here sound (more or less) alike don't you think?
Is this your first child?

Marieke

I live in Virginia, just south of Washington DC.

These babies all do sound very similar! I was surprised to find no similar situations on the US web sites -- our doctor made it sound very common so there must be many others out there!

And yes, he's our first. Every day I learn something new!

Hi Lia and welcome. I am also in the US (Brooklyn) and have definitely found a lack of information. This forum has been great!

Hi everyone, welcome to Liavt. So sorry to hear another family is going through a difficult time. This forum has been really useful for me.
Sorry I haven't been on the forum for a while.
William is now 8 months old. He was diagnosed with DVM but I feel the odds on him getting the 'light switch' turned on and getting much more sight is hugely decreasing. He can fix and track bright objects well but doesn't reach out for things.
At the moment I am more worried about his gross motor skills. He isn't rolling or anywhere near sitting and rarely attempts to move about. We are due to see the paediatrician in January. I feel his difficulties are much more than his sight. I know only time will tell but the waiting is the most difficult thing. Going back to the eye hospital in February.
(I live in Manchester, England)

Gosh it seems like an age since I have beeen on here, how is everyone doing? I hope all of the mums/dads and babies are doing well.
Hannah that sounds so positive, what a wonderful opportunity you had to see how another child was coping with this condition and I am so very happy it has filled you with positivity. Leo sounds like he is doing great and you do too. I’d imagine you are in london now so I really hope things are beginning to progress for you with the hospital and you get even more fantastic help.

Marieke I am so sorry to hear about the possibility of brain damage for kamil and I really hope you get your answers soon as it is this awful waiting in the unknown that makes everything so difficult, however the fact that he’s starting to fixate on things and look at you sounds wonderful. Aren’t our children just the cleverest things.

Lia, hello,I am so sorry to hear about joe and that there is another person going through all of this, but am glad you have found us, this thread has turned into a lovely place to just come and compare notes, let off steam and just have a different perspective really, I hope that things begin to move forward with you soon. The fact he fixates on light sounds very much like all our children and I would agree with marieke, don’t expect the light switch just turning on, although it would be fantastic if it did, it seems from everyone’s experience on this site that actually our children are just getting there slowly and at their own pace. Thinking of you and I hope we hear from you again soon to hear how you are all getting along.

Well…… zachariah is just doing brilliantly, he is 1 on Wednesday and I can’t believe what a clever little boy he is becoming. He definitely isn’t seeing properly and I have to say I don’t feel any connection when he looks at me BUT he has really learnt how to use whatever sight he does have. he is beginning to follow balls around the floor and grab at toys that are shaken at him at just the right angle. We are still in the dark as to what it is, but the fact that he obviously isn’t ‘blind blind’ is just wonderful. He had a hearing test last week but unfortunately he was a bit of a grumps so we have to go back but they’re not worried, and neither am I. I don’t really think we’ll have any more real tests done until around the 18mth check now, just lots of visits from vistas and the odd check up at opth.

Hope youre all doing well and found lots of fantastic stimulating toys for christmas.

We’ve gpt a bean bag which he seems to love being bounced on and the noises it makes, building blocks (mega bloks) which just make a lot of noise and apparently taste nice!, a fisher price phone which he loves when I let it ring, answer it, and pass on to him and something I’m excited about - a bead frame from elc with all the little shapes attatched to metal rings which you can move along and drop etc

Marieke, just gatecrashing when I read your post. I work with children who have special needs, to of which have acc, both of whom are very different. You said that at first you thought that the bridge was just smaller, could that mean your baby has partial acc. One of my children have partial acc which means that there is still some there?

Well, it looks like we are at the end of our mystery. Today Milo had his ERG and the results were abnormal. The neuro-opthamologist confirmed Leber's so now we just need to send off blood to identify the gene. Even though it was something I strongly suspected it was very hard to hear the news, although I know that everything will get better after we get over the initial grief. It also looks as if Milo probably doesn't even have much light perception, which is unfortunate. But it does make things easier to have a diagnosis and not be in limbo...now we can at least move forward.

I am having a hard time but I am alright, particularly with all the optimism that you shared recently Hannah.

Thinking of you all...

jodi

Jodi, I'm so sorry to hear about Milo's diagnosis; I know that must have been very upsetting. But you're right -- the upside is being able to move forward, knowing exactly what you're dealing with. And it sounds like Milo has been blessed with a smart, capable and loving mother -- lucky little guy!

Our Joe is now 9 days from his 6-month birthday. Later that week, we'll return to the pediatric ophthalmologist for our follow-up appointment.
He does seem to have improved somewhat -- he often locks eyes with us and smiles back when held 6-8 inches from our faces, and has even watched the dog walk across the room. But then five minutes later, he stares right past us at nothing in particular. And while he focuses on things better than he used to, he doesn't track or follow much at all. He also doesn't reach out for toys.

He is getting a little more generous with the laughter, though. Just tonight I was putting him to bed and he got very fussy. I walked him around, bouncing him and making a "choo choo train" sound. He went from crying to giggling like mad. That is just the sweetest sound!

So, when we go to our appointment on the 15th I don't know if the diagnosis will remain DVM, with just a little more time needed to see full improvement (they said it resolves by 6 months, but I guess it can go on for longer? ugh, how long?), or if we will be referred on for an MRI or what. I'm eager to hear an unbiased, professional opinion on how he is now vs. two months ago. I'm not sure I can trust my own assessment of him -- some days I feel like I'm full of wishful thinking, and other days I'm certain that he's hopelessly blind and wondering what other delays might be waiting to reveal themselves. What a rollercoaster!

Waiting4baby, happy birthday to your little man! It sounds like he's coming right along and enjoying himself. I love your description of his playtime. We will definitely have some toy shopping on our list this year!

ahh, i'm so sorry i missed your post, stupid me was thinking we'd only got as far as pg 10!
i am sorry to hear you are having concerns with his motor skills, as you live in england, are you getting the additional support of a pead and vision assistant teacher coming to your house? although i sometimes hate the 'intrusion' they can really help if you're at a loss as to what to do or just need someone to talk to (with all the specialists you have to wait for appt or speak to the receptionist who lets fce it -wouldn't know!) also i have heard about special needs health visitors - i don't have one myslef as i think they thought they'd bombarded me enough but it may well be worth asking at your gp if youre not getting the support you want/need. obviously we are all in different situations and our children are all going through different stages but i wouldn't give up hope in the sight just yet as although at 1 zachariah is sill not right there is such a drastic improvement on what he was in september to now.

jodi i'm so sorry to hear about milo's diagnosis but as you say at least you now know and can get on with it as best you can. even if he doesn't have much light perception i would think the fact he has any would still be a good thing. i really hope you get some answers soon and have a good support network around you. i would agree that hannah has made it sound hopeful and with any luck you will have the same opportunities as her and see older children getting along just fine.

lia good luck with your appointment, i hope it all goes really well, you said sometimes he is seeing at a distance and then other days not at all, i just wonder have you noticed how bright it is on the days he is and isn't looking? i only ask as we found with zachariah turning the lights on or just on a sunny day, we seemed to get more reactions out of him than on the dark and dreary days. having said that though i think if you read all our posts from the beginning you would see we have all doubted ourselves at some point or other. how lovely that he's laughing more, i love that sound so much i wish i could just store it in a bottle and listen to it every time i was feeling down it's really uplifting isn't it.

Hi Everyone,

Sorry for my absecence, I've been só bussy lately. Much have happened since my last post. I'll try to give an update.

Since my last post I have spoken to the neurologist about Kamil and the fact that he has agenesie corpus callosum (wich means that the bridge between the two brainhalfs is missing). He confirmed this diagnose and anserwerd most of the questions I had. Fact is that he can't give me any quarenties about what this will mean for Kamil's developement. Some people have acc without even knowing (they find out by accident having an mri for something completely different) and without having any problems. Others with acc are seriously mentaly retarded, often in combination with epilepsy. Most of the time this people have a syndrome and other brainproblems as well. In Kamil's case there's no relation to his other abnormalities. He's not showing any signs of epilepsy and does not have other servere brainproblems. So far there's no syndrome that matches being found. (maybe he is the first one and this is a completely new syndrome)
This all means that whe will not know how Kamil will be developing and all whe can do is wait. Time will tell.... pfffffffffffffff.
Maybe Nicx & Lucas can tell me more about here experiences with childeren with acc (it's not partial)???

In the mean time whe have started physiotherapie to help improve his motor skills. I must say he's really making progress! It really helps to practice with him and I can advice anyone who's child is developing slowly to do this. (ahh, this could be something for you!) It's great fun and really good for you're confidence.
Whe'll also start with visual training/stimulation soon. We'll get our own teacher for this. This can be verry helpfull in Kamil's case.

I also took Kamil to another eyedoctor and he concluded Kamil is not blind, but he does show little visual reaction. He thinks this is deu to a neurological problem (the acc I assume) and he will make an appointment with a neurologist specialiced in childeren for us. I hope he can be of any help.
I must say I'm feeling possitive about all this. I know that there are lots of possibilitys for Kamil to improve his sight and skills. Whe only need to help him with it. And who knows in a few years he might able to see, walk, talk etc. Maybe he will be mentally challenged, but I'm ok with that.
I have lot of experiences with mentally challenged people and I know that they can have a wonderfull life. Whe are getting lots of support now and I feel like whe are really helping him. He's doing so well at the moment!

And than it's almost 5 december. This is a big day in Holland, because whe celebrate "Sinterklaas". (something like Santa Claus) All childeren in Holland believe in Sinterklaas, who visits Holland in December to celbrate his birthday on 5 december. Sinterklaas does not get any presents, he gives them away. It's a tradition that on the evening of 5dec. big bags are brought to our houses with lots presents from Sinterklaas.
Sinterklaas has help of "zwarte pieten" (no elfs :) and he rides a white horse called Amerigo. I'll try to place a picture here.
It means that I've been very bussy buying, making and wrapping gifts for the whole familly. Whe don't give any pressents with Christmass and Santa Claus does not vissit our childeren. So this is like our "christmass"
I'm really looking foreward to it!

Enough about me! (sorry for the epistle :)

Waiting4baby, congratulations! Time flies doesn't it? Did you have a big party? Did zachariah enjoy it?

Milosmom, so sorry to hear Milo is diagnosed with Leber's. I can imagine it came as a schock. It's so definite. I hope you'll be able to move on now and make the best of it! Let us know how you are doing.

Lia, good luck. Let us know if you've got any news and if whe can be of any help.

Take care!!!
Marieke

[Modified by: motherof3 on December 03, 2008 09:59 AM]

[Modified by: motherof3 on December 03, 2008 09:59 AM]

Sinterklaas

Oh, I remember Sinterklaas! What a fun time of year.

I have been getting more and more restless waiting for Joe's appointment. I called the dr's office yesterday to see if we could go ahead and get the order for an MRI, since I know that will be the next step. They said they'll need to see him first and then the earliest opportunity for an MRI will be February or so. Grrr.

I'm passing the time by worrying about every little thing, including the fact that Joe does not push up on his arms when placed on his tummy. He just puts his head down and fusses a little bit, then chews on his hand. This is a milestone he should have reached months ago, but I wonder if his failure to do so is related to not being able to see (as in, why would he look up if he's not rewarded with the sight of my face or a favorite toy?)

It's also resulting in a fair amount of guilt -- Joe was more than two weeks overdue, and when the doctor wanted to induce labor I refused, wanting to wait him out a bit. He was born with meconium in the amniotic fluid, which he inhaled at birth, and I wonder if the subsequent lack of oxygen might be to blame for whatever brain problem might be causing his delays. All I can think is that I should have let them do the induction -- why was I so stubborn? I won't be able to live with myself if that turns out to be a factor in all this.

For now, we're politely avoiding a play group that we used to belong to. The babies his age are all meeting or exceeding milestones, and they happily watch one another and giggle. It just highlights how far behind Joe is, and it's hard to see.

Hi again,

Not sure how much help I can be as the children I work with are profoundly disabled. Both children I have with acc have cortical visual impairment (their eyes work but the brain doesnt interpret the images well), epilepsy and cerebral palsy. The boy in my class was brought home seeimingly normal until he was about 3 months and started having seizures. This was the first indication that anything was wrong. When they did all the scans the only abnormality in the brain was acc despite the fact that he has little control over movement. The girl has scoliosis quite bad despite being young (misshapen back due to one side of hger body developing faster than the other).

So I don't know of how much help I can be because they both have so many other problems as well. They are both affected totally differently and the acc can't be seen to account for all their problems. Hope you and your family are well...xxx

marieake 'happy 5 december' i hope you and your family are having a really lovely time...... i'm also really glad you are finding the physiotherapist useful and seeing kamil progress must be really fantastic.

lia please, please, please don't play the guilt game, i know it's impossible not to, i've done it myself: could it be i didn't know i was pregnant at first and did too much (we moved house) or maybe because i stripped a wall of paint (likely to be lead based) or maybe because hubby and i were at each others throats a lot and stress caused it, or because i had a 3.5 hour push and he got stuck, he was vertex and noone knew ti i was in labour, maybe if i'd chosen hospital instead of mid-wifery i would have had help early enough to do something rather than be rushed across by ambulance, he was recussitated but noone told me i read it in the notes, maybe if i'd insisted someone intervened.......the list goes on. everything in life happens for a reason, some we get to understand and some we spend our lifetime trying to work out. but don't beat yourself up about it, if it was something that happened a lot then you would have been informed when the induction was suggested. joe is a beautiful little boy and i doubt he is short of love. you (and he) are doing fine. look after yourselves and just try to focus on what can be changed and not what can't , thinking of you all =D

Thank you -- that helps a lot!

We had a similar experience with Joe's troubles at birth. They took him away and said they were just going to "clear him out" and make sure the meconium hadn't collected in his lungs to cause pneumonia. They brought him back four hours later and muttered something about how his cry might sound raspy because of the stuff that was in his throat but he was fine. Three days later, he wasn't latching properly at the breast so we went to visit a lactation consultant. She had retrieved the file from the hospital and found that he had been *intubated* at one point. Intubation is quite scary and painful, and she believed it was the reason he was afraid to open his mouth wide for a good latch. Why would no one at the hospital mention that he had been through that?

I'm feeling less guilt now and less anxious overall. I talked it over with my husband, including all the "what ifs" and he put my mind at ease. We are both very anxious to see what the doctor says next week. He has a pediatrician appointment before the ophthalmologist appointment, and I'd like to know if they both think that his infrequent smiling and his disinterest in toys are directly related to his poor vision or if there's more going on in his brain than just the eye stuff. We met with friends again today (the "overachiever" baby set I swore I was going to avoid) -- all of their little ones were smiling, babbling, poking at each other, etc., and Joe just sat there. Not unhappy, mind you, just not at all interactive.

Anyway. Enough about that, how is Zacharia? Did you have a little party to celebrate his birthday?

Hi All,

Sorry I've been so scarce lately but I've been back in England for the last 2 weeks and been a very busy bee.

I cant write much as I'm borrowing someones computer, but I just wanted to pop by and check how everyone is.

First off, Jodi. I know EXACTLY how you're feeling. We were also told it is probably Leber's but when the ERG results came back it was a huge knock. I think before its made definate you can just silently wish or be in denial. The very positive thing about LCA is that it is now classed as 'potentially treatable', which is amazing for us. Gene trials are underway and who knows Milo might have the RPE65 gene which is the one they are working on at the moment. Please remind me where you are again? Sorry I have a bad memory. If you want to ask anything or just chat my email is hannahlakesa@hotmail.com.

Lia, welcome and allthough its horrid to hear there's another family struggling with this, you've come to the right place!

Happy Birthday to Zachariah! So glad to hear hes doing so well.

Have been to the GP here who has referred us to Moorfields, so now just waiting for our appointment. Who knows how long that will take.

Leo's still doing great, he's soooo clever and everyone just adores him. He's one of those smiley baby's who everyone just drools over :-). He's so friendly with everyone that his sight problem actually goes unnoticed.

Oh! I nearly forgot. This is very short notice, but me and Leo are going to the RNIB in London on Tuestday the 9th December. Its a Sing and play session for Visually impaired children under 6 years. Im really looking forward to it and anyone who can get the there, just go to the RNIB website and give them a call, it should be really good and helpful.

Anyways sorry cant write more right now but I hope you're all doing well and getting along nicely.

Hannah :-)

Thanks for all the kind words everyone -- I am feeling much better about our diagnosis. As I said, it was hard, but I'm already moving forward and feeling much more hopeful about the future. And Hannah, you're right -- there may be some hope for gene therapy. Although it will take FOREVER to get the results back on which gene Milo has. Apparently it takes 6-8 months here. Ugh.

waiting4baby, I hope Zachariah had a wonderful birthday,

Marieke, you sound like you are getting some more answers and doing great. Hope you had a terrific Sinterklaas. We lived in Germany for awhile when I was younger and I remember we used to put our boots outside the door on Dec. 5 to be filled up with goodies from St. Nicolaus.

ahh -- have you had an MRI or an ERG yet? It sounds like the delays you mention are similar to what all of our kids seem to be going through and it also seems like William is definitely improving with his sight. But I know what you mean about worrying that it is related to something else and the waiting is the hardest thing. Can you get some more tests done if only for your peace of mind?

Lia - good luck with your upcoming appointments. It doesn't sound like Joe is all that far off -- I think that the picking up the head during tummy time is something that most babies with visual impairments struggle with. At least many of us on this list. Plus, didn't you say that Joe is sitting/rolling just fine? His other motor skills are good so I really don't think the pushing up is a major issue. And it seems like he is definitely making progress with the vision which is good. But I hope that you learn more soon and that he keeps improving. And all those over-achiever babies can just stuff it. :)

CJK, hope you are doing well, and claudif- don't know if you are still checking the list but I keep thinking of Maia and hope she is alright. You are in my thoughts.

Jodi

Hello, thank you everyone we had a lovely birthday. it was just mummy, daddy and baby though as unfortunately between us, my family and the in laws we couldn’t get a date that we could all manage as we’re all scattered around the country. BUT he had fun and loved the cake, and the helium balloons were of great interest which was nice to see.

Lia- it’s good that youre going to groups, I never went as in the beginning I didn’t know how to explain the situation and then I just lost the confidence in myself. I would think it’s nice to get out and although the babies may be achieving more than Joe, just remember that when Joe does all these things that the other mummies may take for granted, just how special it is. Everytime zachariah achieves something I am so proud of him, especially as I know it is double the achievement. As for smiling he wouldn’t smile at all unti.l 4 months and even now it just brightens up any day when I see his face light up ,as it’s just so special. As for his lack of interest in toys- I am sure the dr will fill you in, but we were told from the start that not having the vision is a direct link to a lack of interest in toys, lifting selves up, crawling etc.

Hannah- it sounds like leo is doing fantastically and a right little charmer. Good luck with the appts, how did the session sing thing go today?

Jodi- I’m glad you’re feeling you’re dealing better now and all the best for milo

Hope everyone else is doing well, thinking of you all

And Hannah, I just wanted to say thanks for all the encouragement about LCA and I hope the rest of your trip is wonderful!

waiting4baby, can you give me some sense of when Zachariah hit the various milestones? I'm curious to know when I might expect to see my Joe roll over, push up, etc. He's not doing much of either right now, but he does sit well with support and "stands" when I hold him in my lap.

sure, i wrote it down somewhere before

i have looked through my diary and will give you an indication as to zachariah development, some of them are spot on and some are delayed
reached for toy (based on noise) 6+month
smiled 4+months
laughed (through physical contact only) 4+ month and very rare
rolled 6+
sit 6+ (not for long)
crawled 8.5+
trying to stand he's been doing for about a week
cooing 4 + but still nothing recognisable, no ba da ma etc..........

i'll look up more recent things later and get back to you. sorry just a quick check in.

Thank you so much -- what you've already provided helps a great deal!

Went to the pediatrician earlier today. She's concerned about Joe's low muscle tone, and the milestones he's not meeting, and fears that his vision may be just part of a larger problem. She is worried that it's a genetic disorder of some kind or possible brain injury from his birth (lack of oxygen -- he didn't breathe so well at first).

We have to see a neurologist in January to see what's up.

In the meantime, he sees the pediatric ophthalmologist on Monday. I wonder what his take on all this will be, if the improvement we thought we were seeing is actually there or not.

I'm tired from crying.

Lia, I'm so sorry that you are having a rough day. It is not a bad idea to see a neurologist, but I really feel strongly that the pushing up in particular is related to Joe's lack of vision. The fact that he is already sitting and standing is a very good sign -- frankly, if he is doing that, he really can't be all that low tone. And most of he other missed milestones are related to vision (i.e. reaching for toys, etc.). Your pediatrician is wisely being cautious and covering all bases but I would not get ahead of yourself with worry. I know it's hard not to, though. I think we've all been there.

Good luck with the opthamologist on Monday and I really hope you get good news.

lia i am so sorry, but PLEASE listen to milos mum. he is sitting and standing and that is fantastic, also they have to look at everything else otherwise should something turn up in several years time you'd be asking why the hell they'd never checked in the first place. the genetic and brain tests i think we have all done with the mri and the erg/vep, it will either rule it all out or you will need more tests. it is very hard not to get ahead of yourself, but you must stay positive. zachariah has been sent for hearing tests despite the fact he can clearly hear us, they just want to cover their bases AND even when we went for the 1st test they were sure he could hear but because he was grumpy, tsk, they want to redo it! As for the mri...it came back fine and yet we are still being told he may need it all redone at around 2 as the brain is still developing and it may turn up then should we still be having problems.
IF it turns out that there is something deeper going on with joe you should still look at how fantastically he is already doing. i gave you zachariah's milestones but what i didn't say is that you need to please remember that all children develop differently. i also go on the dec 07 thread on here and zachariah is ahead of perfectly able children in some things and behind in others (but he's not the only one). the problem at this age is none of us really know what is down to delay and what is our little men taking their sweet time. my brother for instance is perfectly fit and healthy and yet he never walked til 2 and talked at 3!
you also need to remember that if you think he is progresing he probably is, specialists see your little one for about 10 minutes and you see them 24/7. if they are tiered/hungry/not well then that is what the specialist will be looking at not happy and content etc.

take care of yourself and you'll be fine, if you ever need to chat we are here for you ( i also have email enabled on here which you're welcome to tap on if you want too)

Lia, one other thing you might want to do since your are in the US is get started with Early Intervention. Regardless of whether Joe's vision problems continue or not, it will help now -- and the process can sometimes take awhile so you might as well get started. If it turns out that Joe doesn't need it because he's regained his vision there's no harm in having set it up. I think in almost all states of the US it is free regardless of whether or not you have insurance.

In addition to vision services Early Intervention also provides physical therapists to help with motor skills as babies who are low vision often need a little extra help exploring their environment (makes sense). I got a referral a few months ago when Milo had the DVM diagnosis and the services should be starting soon -- I am so glad I started the process because in our situation we will continue to need the therapy. For us it seemed to take a particularly long time but I think that most other people that I've talked to haven't had to wait as long.

As I said, I think most of the delays you are talking about sound pretty minor and can be headed off with Early Intervention.

Just thinking of you and hope you are feeling better today.

Thanks so much, you guys. I am so grateful to have found this forum.

I am feeling much better today. Yesterday I came home with a very bleak idea of what the future held, but I'm feeling much more optimistic now. I think he just needs a little more help than I can give him in order to get caught up. But even if this vision loss is permanent, even if he has some significant delays ... it's going to be fine. He's a happy kid and his family loves him. That's all that matters.

I did make a phone call to our local Early Intervention office -- thank you for that advice! We should have an evaluation in the next few weeks.

Thanks again.

really glad you are getting things into perspective lia that early intervention thing sounds great. absolutely our children are certainly not lacking in love and lets be honest from what i can see they're beautiful too. heehee.

look after yourselves and make sure you keep us updated.

ahh/cjk/claudiuf : how are you al, it's been a while since we've heard from any of you. really hope things are going ok with you and your little ones are shining through =)

Lia, glad you are feeling better. I was looking up some info for my own reference and ran across this from blindchildren.org

"Much of the literature on the development of blind babies states that they are delayed in pushing up on their arms in the prone position (on the belly) as much as six months compared to sighted babies."

Milo also is not really pushing up and I was looking for ways to help him do it more. But he's really coming along in so many other ways -- he can sit supported (but only for a few seconds) by holding himself up with his hands and he has started standing really well when I pull him up in my lap. I am so happy because this seems pretty normal for 5 months, which he is today. He shows no interest in rolling over from his back to front but I imagine that will take awhile longer as everyone seems to say.

Anyway, we had such a slow go of it in terms of the early motor skills that I am so happy and just wanted to share! We are so proud of our little guy.

Well done Milo that sounds fantastic and by the way what a GORGEOUS picture. really hope he continues to progress well, it sounds like you're doing a fantastic job, what a lovely gift for christmas

Hurray, Milo! It sounds like he's doing beautifully.

We had our second visit with the pediatric ophthalmologist today. He's still calling it DVM but was concerned that the nystagmus Joe had two months ago is now more pronounced, as is the crossing of his left eye. He also has astigmatism and nearsightedness, which are making whatever he does (or would) see blurry.

The doctor thinks maybe making that blurry view a little clearer will stop the brain from making his eyes cross and wiggle, so he prescribed glasses. He said not to expect miracles from it, but that it may eventually bring everything into focus. At the very least, it will keep me from having to explain to strangers that he has a vision problem!

He looked adorable in the sample pair we tried on him -- his own pair will be ready later this week.

The doctor did order an MRI and I hope to have that done by the time we see a neurologist on Jan. 15. It makes me very nervous that the eye symptoms have gotten worse and I wonder what we'll find -- but it will be nice to have some information.

[Modified by: liavt on December 17, 2008 11:33 PM]

hi lia, hope you and your family are well. great news to hear they think glasses may help joe a bit. does he have them now? how is he/you finding them. fingers crossed you get the mri done asap. i know it's not much fun but at least once it's done you'll hopefully have a few more answers.

hope everyone else is well and looking forward to the Christmas celebrations, i know i am and although zachariah is no different visually he is coming along brilliantly, we had another hearing test, they say it's fine but they want to continue monitoring him every couple of months (!?) i'm not sure i see the point as far as his hearing goes but i guess at least they're making sure he's ok. i am not seeing the opth again until late january and i am looking forward to seeing what they say about his progress so far, i also might try and find out if they have a clue as to whether i'll be able to put him in mainstream school or i should start hunting for some sort of special assistance ones.

happy christmas all x

Hi all. It's been a while since I've been here since my son unfortunately has developed epilepsy...
It's been going on for about a month I think, but who knows, maybe he's had it all the time without our knowledge. There are so many different kinds. He is taking medicin now but he still gets seizures every night, although not as dramatic.

So we feel low low. He is a very passive child, no talking, no communication really and he doesn't show any interest in toys or sounds or people or anything really. Except for standing up when we hold on to his hands. That he seems to like a lot.

The doctors still have no idea what causes his lack of vision and the epilepsy and they've taken all kinds of tests - chromosomes, metabolic disorders etc. But it seems pretty clear to me that something is not right with his brain if he is passive, blind and has epilepsy.

Sorry about this negative reply.... I'd better go to bed so I feel better tomorrow. Every other day is low, every other day is better.

CJK I am so sorry to hear your news. Are there other medications you can use to try to get the seizures under control? Does your doctor know what kind of seizures they are? I really hope that you get some answers and that you can find the right medication -- I have read that if you catch it early and can find a way to stop the seizures then that is really positive. This was one of the things that our doctors were looking at in Milo's case as well.

I'm sorry you are so down and I understand in a way how you are feeling. Our diagnosis of Leber's was different but also devastating. But time does help, and you have to allow yourself to grieve and get through it. I hope that you have friends/family that you can lean on during this time to help you through. And if you ever just want to vent or have an outlet please feel free to contact me at jodi@jodisheeler.com.

I am thinking of you.

oh CJK i am so sorry to hear that your sons case has become more difficult and really hope like jodi says you have a good support network around you, and if you do want to get in touch outside of this thread feel free to email me by clicking on the email tab under this message. i know all the drs will constantly be asking how you think your son is doing but please make sure you let one of them know how you are doing. they may be able to help you find other families going through similar problems so like on here you would be able to befriend people who truly understand the heartache. i know this may not help much but please remember that just because everything looks linked you may find that each is individual. eg his movement may well be purely down to his vision and nothing else. please look after youself and you and your family will be in our thoughts and prayers x

hello everyone,

how was you're christmass? I hope you all enjoyed it.
The days before christmass whe went to EuroDisney. What a great 4 days! Everything is só beautifull, só fairylike with music and christmasstrees all around. It really brightens up your day.
Whe cam home on Christmasseve and spent the past two days at home, resting and celebrating christmass.
Terra and Ravi had the best time ever and Kamil was doing wonderfull. He is só verry sweet.

Since my last post much have happenden as whe may have found the cause of Kamil's problems. Whe think he has a syndrome called Mowat Wilson Syndrome. His blood has been send to Germanny to test for it. Whe'll get the results in a few months. If he has this syndrome this means he deffinitly is mentally challenged (could be servere). He could also have epilepsy (but shows no singns of it yet). It could also mean that he has heartproblems, he will get an echo for it (they don't think he has though, just to make sure)
Eventhough it's really a servere condition (there's a whole list of problems he could be having, some whe're sure he has not, some he has alreaddy, some we don't know just yet) I am really alright with it. I'm not scared of having an dissabled child. I really believe I can give him a happy and meaningfull life. And I love him so verry much that he will be perfect to me anyway. Luckily my husband and other two childeren feel the same about him. He's loved so much. And he's doing really well.
Whe also know that the operation will be in February.
In the mean time whe have started a visual stimulation program. Whe know now he can see something and that the problem is a neurological one. This means the visual information does not gets proccessed in the right way. Whe hope whe can improve this. What's really funny is that he see's when whe hold his nipple, his bottle or something to eat in front of him. He immediattely opens his mouth and leans foreward, smart boy :)

I hope everyone is doing well.
CJK, I hope you're pulling through. Thinking of you!
Lia, don't worry too much as nothing is sure yet. It could be fine.

Love, Marieke

marieke, i'm sorry to hear the theories of kamils diagnosis and wish you all the best for the results and operation etc. it sounds lke you are prepared for the worst and from what you've written you and your family are coping brilliantly. what a clever boy to be able to find his bottle and things, i guess everything is small steps but each is a wonderful achievment.

thinking of you and your family. take care.
i'm glad you had a lovely christmas, it sounds fantastic. we had a really lovely time too, i hadn't expected zachariah to take much in this year but i guess he just bounced off the rest of us as he was having a whale of a time, happy, never sleeping, always playing, just a joy to watch.

would anyone be interested in facebook here? i know we are all pretty private but it would be lovely to 'meet' you all. if you would like to please email me your name and i'll try to find you or ask me for mine a(through email though as i don't want to put it on here!) and you can search for me =)

happy christmas and hope you all have a wonderful new year. i think for all of us in particular we are probably glad to see the back of 2008 and i wish all of you a beautiful 2009 with happy children and no more long waits for answers x

CJK, I hope things are looking up for you now. I think everyone here has experienced "low" days where it all seems beyond hope. But then there seem to be great days that make you wonder why you were ever so sad about it. I'm hoping you have more of those kinds of days. As others have said, with the right treatment things may turn out much better than you'd hoped. I've known adults with epilepsy who had very scary starts but went on to do fine. I wish that for your little one!

Marieke, I am sorry to hear about the diagnosis you're expecting, but it must be some relief to have an answer on the way. It sounds like Kamil has a wonderful family and is learning about his environment so he's off to a great start!

Joe is getting used to his glasses. He still doesn't appear to see much, but he gets lots of attention from strangers when we go out! It's nice for me too, because I don't have to explain to people that he has a vision problem -- little old ladies used to get all bent out of shape when he didn't look at them and smile! He still has the nystagmus, but his eyes do seem to cross less than they used to. We see a neurologist on Jan. 15 about the milestones he's missing, and then his MRI is on Jan. 27. I hope that we'll have some kind of an answer and a plan of action by February.

We spent Christmas with my parents, who were able to point out progress he's made -- which we sometimes don't notice because we see him every day. He's much "chattier" now, lots of babbling and yelling, and he appears to look around more, although we're not sure what he's seeing when he does. He is very much enjoying his new routine of solid foods, with a special love for bananas! Still no interest in toys or pushing up/rolling over, and while he does stare at faces he doesn't smile back, but we hope the neuro will have some insight on all those things.

Waiting4baby, I'm on Facebook and would love to see you there! I'll email you my info.

I wish everyone a very happy new year, full of good news and great progress for our little ones. Imagine what they'll be up to this time next year!

Lia I can't believe people would get upsetvover a baby not responding, how rude! When people are obviously trying to get zachariah's attention I would just ignore them, I guess a lot of the time with him it looked like he was fascinated with something else though as his eyes would look to the side(?) glad the glasses have made some difference even if atm it's just to tell people to back off, but it must have been great to hear from your family that they can see progress. It is certainly more obvious to people who aren't around all the time. Really wishing youluck with neuro and MRI. It may be worth writing all your qn down as I know when I go I get distracted by everything and then remember things I'd wanted to say after I've left.

Hannah/Leo mummy how are you? How is moorfields , hope you are doing well and that Leo continues to do brilliantly

We're back from the neurologist. Joe is "delayed" in 6 of 7 categories (the one good one was basically eating/sleeping -- he does enjoy those!)

She characterized his muscle tone as "medium" rather than "low," and really only in his trunk and neck. Low enough to cause some delays (obviously!) but not so low that she'd expect long-lasting problems out of it.

She was concerned about the same things we are -- the lack of interaction (like a social smile), the indifference to toys, not pulling his head up when prone, etc.

And of course, his vision. His eyes are quite wobbly still, and he can't seem to make out anything more than a few inches away.

She said delays like his can be caused by a brain abnormality, a genetic disorder or a metabolic disorder. Or, they can have no apparent cause and resolve on their own. I asked her which of these was most likely to explain Joe's situation, and she said it's impossible to say without investigating. So they'll take blood and urine samples on the same day as the MRI (Jan. 27), to test for those other possibilities. And we'll wring our hands until we have an answer.

It's strange. A few months ago, we thought his eyes were the only problem -- and I was devastated. Now, it seems like low vision is just ONE of his problems -- and I feel fine! Whatever the diagnosis, he is making steady progress, seems quite content, and is just the light of our lives. We might have to adjust our plans a bit, but it's going to be OK.

It's been lovely "meeting" Milo and Zachariah's moms on Facebook -- if any of you others can join us there, please do! (I love to ogle other people's baby photos almost as much as my own!)

Hi Lia,

i am sorry to hear they think he is delayed but it does sound good that muscle tone is only at medium and not low. they do say vision will make everything delayed so i personally would say there was still hope in that matter.
i can't remember exactly how old joe is now and i know im not the specialist and not met joe so i reallty am only saying from my experience, but no social smile and interaction with toys for us was very normal, in fact it is only in the last month that he actually smiled at a woman pulling faces at him in his pushchair and he's 1!(i could have cried at the enormity of it)... the toy interaction i'd worried about for ages, i felt he should be playing the piano, riding his car and building the eiffel tower lol, but when i spoke to mums whose babies were born the same time as zachariah on here, i found that actually their babies didnt do much either, just they would reach out for them. but now they're all older i don't think he's the same as the others with toys as i wil hear stories about things being hidden in the car seats etc and zachariah has only just started showing interest in toys and it really is just to eat them! the only thing we did manage to do with him though was a rattle and it was only for a minute maybe but he'd enjoy bashing it after we'd shown him how.

it is fantastic that you feel you can cope now whatever the outcome, i think in one sense thats where we've all been lucky, we have such a waiting game it also gives us time to get over the shock and begin preparing. our babies really are so special and just watching how well they are progressing and how happy they are just makes us so proud. i really do believe in most cases disability is only a disability if you make it one and i think all our children are doing fantastically well. good luck with all the tests we'll be thinking of you and i really hope the results dont take too long to come through for you. joe will be fine, because you are ;)

zachariah has had a nasty bug this week so we've had to cancel his physio assessment but will be having it later in the month, and we have the opth again on 26th jan. i'm not expecting much as we've been told it is a waiting game until around 18month - 2yrs when they may carry out another mri. i'm hoping i'll get to find out about whether they think he'll be ok for mainstream school or not (or maybe this is something else i have to wait for) and have been a bit worried as when he was very ill on sundy it was like he couldnt see at all, to me the idea of cerbral visual impairment now sounds quite likely from everything ive understood about it (quite limited tbh)

hope everyone else is doing well, ahh, cjk, claudiuf, leosmummy how are you all doing, how are the little ones, please stay strong and i hope we're not hearing from you purely because you are all having wonderful times jut enjoying your babies. leosmummy/hannah, i'd love to hear how its been going for yhou in moorfields and cjk i hope you have had more answers about the epilepsy ..thinking of you all and like liavt said it would be lovely if any of you would like to 'meet' on facebook as it's been nice to see how wonderfully our little ones are doing and just to humanise us a bit, drop me an email if youre intersted and i can link us all up

take care everyone

I have been reading this thread since May and have been following all of your stories. I was always planning to contribute once we had more of an understanding about our son's situation. We still do not really have that greater understanding but here is our story to date...

Tommy was born in April and from around the 4 week mark we became concerned as it was quite obvious he wasn't making eye contact or even flinching when you startled him. We got into see a paediatric opthamologist soon after this who outlined a number of options including delayed visual maturation and some another much more serious possibilites. It was after this appointment that I googled DVM and came across this website. Tommy's eyes then started roving around which seemed to us as though he was trying to see but then from 9 weeks of age this roving movement developed into a more pendular jerky movement. We then went back to the opthamologist who told us that he had nystagmus, and it wasn't a very positive appointment as the much more serious possibilities were now being looked at because of this and the fact he had no visual acuity.

We had our MRI and ERG tests cancelled twice for different reasons, so I have nothing to report here but from 14 weeks of age Tommy started to intermittently follow black & white objects. It seemed to take forever to get a social smile from him and often we put it down to a coincidence and he wasn't really smiling at us. From around the 20 weeks stage he was actively reaching out for toys and following them back and forward and social smiling.:\) He is now 9 months old and the nystagmus is still prevalent and we are not sure just what he can see but we know he can see close up but he doesn't seem to see that far infront of him. He started crawling on Christmas Day and he crawled over to his brother and pulled the colouring pen out of his hand with great precision. He is picking up small items off the "busy" persian rugs and seems to be able to pick up the smallest items of food from the highchair tray. I thought we might get more of an idea of his visual acuity now he is crawling but it is still hard to tell and once again this will be a waiting game. We have another opthamologist appointment next month.

I apologise for the lengthy account but I have been greatful to have been able to share in your stories and I know what it is like when you are trying to get further information and personal accounts really do help. He is the happiest wee man and an absolute delight we are fortunate in so many ways. I am on Facebook too so please feel free to email through your details so I can "meet" up with those of you who have already made contact through it:\).

3boys great to meet you. So sorry that you too are going through vision difficulties but it sounds like Tommy is doing great -- hopefully he will just keep improving! And it's nice that he has brothers to help him out. That's the one thing I wish for Milo -- that he had a brother or sister.

Lia, you also sound like you are doing really well. My fingers will be crossed that all goes well at the MRI. Milo was sedated (not anaesthetized) and we found it to be a pretty easy experience overall. He was just a little sleepy for the rest of that day. I'm so glad you are moving forward with new info. And one thing to always keep in mind (and our neurologist said it as well) is that babies develop at different rates and when they are this little it is very hard to tell. The fact that Joe is content and keeps making progress is the most important thing.

Marieke, I just wanted to say that you also sound like you are doing wonderfully. I hope you continue to get more answers. Kamil was born into such a loving, supportive family. He's going to be fine!!

I hope everyone else is doing well. It has been wonderful to see pics of Joe and Zachariah on facebook (they are both so cute you could drool). I'm also there if you want to e-mail.

Thinking of all of you...

jodi

Hi all!
It's been a while since I've been here. Hope everyone is ok, I'm thinking of you all.

Our son, as you know, was diagnosed with epilepsy in December. We've spent days at the hospital since the seizures are pretty serious and the medicines don't seem to help. Ambulance twice and 6 medicines. But no difference really.

But what's positive though is that our son's case now seems to be of high priority, and hopefully we will get a diagnosis within a few weeks. They think that our son either has a progressive brain disease (which is not good at all) OR (which would be a miracle) it could be something called "epileptic blindness". In that case surgery could possibly stop the seizures and even make him see. This is probably too good to be true, but I wanted to share the article about epileptic blindness in case any of you in this forum will experience something like it.

Unfortunately the whole article no longer seems available without subscription, but here is the abstract:

Prolonged epileptic blindness in an infant associated with cortical dysplasia
http://journals.cambridge.org/action/displayAbstract?aid=65709

Take care!

Hello All,
Some of you I have spoken to in my previous post on here and on my post in 'baby' forum but I'll do a brief history here to introduce myself! And my lovely little lady!

I am Lydia, mother of 3... my eldest 2 are 11 (girl) and 9 (boy) and now after a big gap I am proud mummy to Baby Lillith Rose. She is 15weeks old and has just changed my life completly.

Having had my older 2 very early in life when I met my hubby nearly 5 years ago I knew at some point we'd have a family.. though after a long time trying I wasn't so sure!! Anyway October 6th 2008 at 11.03pm Lillith made her enterance to the world.

She is such a wonderful little lady, amuses me so much as she spends her days with her lips pursed into a perfect 'pout'!! and she seemed to be developing fine. She smiled at 5 weeks and giggled about 10, turning to look at me and her dad when we spoke to her.

Around christmas we had a few people mention how much her eyes moved around. So on the 5th Jan I went to my gp and just asked him to take a look, about an hour later we were up in casualty waiting to see a pediatrician. He referred us to an Ophthalmologist and we were seen on the 7th Jan-here they diagnosed Lillith with Albinism, Nystagmus and Delayed Vision Development. Since then life has been a bit of a blur. Sensory support has been twice and we have a development journal for her but what comes next I just don't know. At the moment I am just trying to figure out if I can afford to return to work with less hours than planned as I just want to be the one to be with her.

Sorry it hasn't been all that short!! Lovely to meet you all....

Lydia xx (and Lillith)

hi all

3boys, i'm glad youve decided to join in and it sounds like your little boy is doing fantastically so congratulations - are you still waiting for mri and erg etc then or have they been written off as not needed? like milos mum said i also wish that zachariah had an older sibilng to 'look out' for him etc. tommy sounds very fortunate, i really hope he continues his brilliant progress.

tink - hi, glad youve popped over, how is lilly doing? how are you doing? have you sorted out your work dilemna? i have to say i would feel just like you, life is very busy with our little ones needing all the extra support and visits to check on their progress, i am actually not working and although we could probably do with the extra cash we struggle through and i am loving being there to watch my son blossom. i do hope when he is a little older though i manage to find something i can do at home, even if it's just selling bits n pieces online etc. good luck.

cjk, i am so sorry to hear your boys epilepsy has been so bad recently but like you say it is great that he is now a top priority and with any luck you will get your answers very soon and i pray for you that it is the epileptic blindness, it must be very hard for you right now seeing your little one going through all of this and worrying about getting your hopes up too much about the diagnosis, how are you doing? i have been thinking of you a lot recently as i know you don't get on here much. all the best cjk and fingers crossed =)

nothing new to report here really, physio were pleased with his progress and he has been discharged woohoo, although should anything pop up i am allowed to phone her directly which is great. we see the opth tomorrow although im not expecting them to tell me anything i dont know already i am looking fwd to hearing what they think.

good luck with the mri on tuesday lia, zachariah was sedated once which didnt work and aneasthetised the 2nd time which was fine although he was a bit raspy afterwards and its just the waiting thats draining, that and the fasting good luck and thinking of you

milos mum - i'm not sure if you have tests anymore or if he's just having support now, but i hope milo is doing brilliantly

hannah how is london? how is leo?

hope you are all doing well and no doubt we will be catching up again soon =)

Hi to all,
My name is Lydia and I am Mum to Michael (8) who has Down Syndrome and Macgregor who is 6. We were very pleased to give birth to Emily Rose on Nov 17 2008.
Emily is now 10 weeks old and we were concerned because she wasn't smiling and didn't focus on objects or our faces. We have been to the paediatrician and the next stop is the eye specialist.
It's been helpful reading your stories on this site although I'm still not sure how worried to be. Am I right in assuming that if it is DVM then Emily will improve by 6-9 months or is that only sometimes?
Will definitely take on board some of the stimuation ideas such as CD mobiles and black and white objects.
Having been through a miriad of problems with our son Michael I'm sure we will deal with whatever comes.
cheers
Lydia:roll:

Hi all!! So sorry I haven't been on here for ages but I've been between SA and UK and have been having serious web issues. Please add me on facebook - Hannah Lake - Network -South Africa.

I also have a group on there Leo's fight for sight, please feel free to join!

Chat soon :-)

In response to your question Waiting4baby we have never been all that keen to have the MRI and put Thomas through it, he had been booked to do it twice and it was cancelled both times because of reasons outside of our control. As time goes on we are not sure we will get it as he seems to be developing well in every other respect. We are not sure it will tell us anything. We will talk this over with the opthamologist next month as Thomas's vision has come along way since our last appointment in September. However the nystagmus is prominent and it is hard to tell how well he sees, he definately sees close up but not that far in front of him.

Hi to everyone, and welcome to the Lydias.

hi hannah, i think i've found you but if not please email on my lin k and with any luck we'll track each other down, hope everything is going well with leo and we catch up soon. =)

hello mumtoem - lydia, wow you certainly sound on top of things, you said you dont know how worried to be and to be honest the one thing i do know with dvm is its a long waiting process so i would say the less you worry the better as it can be so draining. you are right if it is dvm then it should be resolved by 6-9months with extra assistance in getting your little one intersted in things, if you have read though the whole thread you will notice i think with finn3 this was the case, however the rest of us i think it has turned from dvm into uncertainty but if i say so myself i think we are all coping brilliantly and all have incredibly beautiful and well loved children who are doing fantastically in their own ways. emily at only 10 weeks you have a lot of time ahead of you and they say with dvm the first things they are likely to see are shiny objects and black and white things, i would imagine you will have a vision assistant come to you and help come up with ways of working her eyes and i wish you all the best.

3boys - the mri is scary in thought but they do fine. we actually had it tried twice and so the first time was sedation which had he not woken up wouldnt have been particularly traumatic for him at all, when he woke upit was just like hed had a long nap nothing else, it is the fasting that they have trouble with but ONLY if the mri ends up delayed as actually i found we managed pretty well by giving him everything at the set times and juice for the last bit and distraction. the anaesthetic i think although difficult for you to watch (if you choose to) again isn't too bad as they are gassed just by a hose being held close to them and fall asleep before any tubes or what not are added, i think waking up from that is harder as 'mummy' is not there but you are reunited so quickly they are ok. personally i would rather the mri was done while he is young enough to not really understand what is going on and having now been through it i am more concerned about him having it done at 2, but as you say if thomas is doing so well already there may be no need for it at all, i dont know what they do about nystagmus...... as for the erg thats fine, just difficult for a baby as fer as getting them to stay still. its just a few wires connected to different parts of the brain with a bit of plaster and a light flashed at them, i found just singing to him was enough so should you need it please don't worry. good luck with the opth, i am sure they will be very impressed from what you say

liavt really hope the mri went well, i have been thinking of you lots today

Hello all,

Joe's MRI went fine today -- he only needed the sedation (instead of the full-on anesthesia). He was a little out of sorts when it was over, but perked right up after a good meal. He's like his mother that way, heh.

Now we wait for results. They said we'd hear from them within the week -- which almost seems too good to be true, but I'm staying near the phone! They also took his blood to test for genetic disorders, but that will take several weeks.

Hannah, so good to see you again! I'm going to look you up on Facebook. I hope you have posted some photos of that sweet boy!

3boys, I completely understand your reservations about the MRI. If Joe didn't have developmental delays along with the nystagmus, we probably would have skipped it too. Our ophth said that if the MRI shows nothing, then it's just congenital nystagmus (or infantile nystagmus, as they seem to be calling it now) and he'll adapt to it as he grows. That seems likely to be the case with Thomas. I have found a helpful site at http://health.groups.yahoo.com/group/ann-list/. It's full of parents whose kids have nystagmus, as well as adults who have had it all their life. They are incredibly helpful with all sorts of questions about what kids with nystagmus can do well and what they might have trouble with. Anyway, best of luck to you and do keep us posted after that next appointment!

Tink27, that site may be of interest to you as well -- there are at least a couple of regulars there who also have albinism. Congratulations, by the way, on your precious girl!

MumtoEm, welcome! DVM is sort of a "retrospective" diagnosis, meaning that only after the maturation happens can they say for sure that's what it was. It means a long and nervous wait, but the good news is that in most cases it does in fact resolve by 6-9 months so the dr. can confidently say it was DVM. In other cases, it turns out to be diagnosed as something else -- or a bit of a mystery, as you've seen with some of us here! Rest assured that the odds are in favor of your Emily gaining full vision. And if it somehow becomes more complicated than that, you've found the right group for coping! Do keep us posted once you've seen the eye specialist.

Thinking of all of you!

Joe's MRI was normal!

What a relief, even if does still leave us with a bit of a mystery. I was worried that he had sustained some brain damage from the meconium aspiration at birth, which I would have blamed myself for forever (I stubbornly refused to be induced). Whew!

Now we wait for the genetic tests ...

Oh liavt that is fantastic news I am so pleased for joe, you and your family best wishes for the other tests coming through fast and with nothing but good news :)

Wonderful news Liavt!! You must be so relieved. Hope all keeps going well.

i came across this forum by accident and saw your post (the amount of replies intruiged me) and I just wanted to say what fantastic women you all are - so strong and its so lovely to see how you are all there to support eachother!

All your LOs sound fantastic and I wish them all the best!

take care xx xx

Thank you brandollarz I think we gave been very lucky to find each other too.

Milosmom I am loving the new pic you've attatched he looks gorgeous and so grown up now too :)

Hope all are doing well x

Thank you brandollarz I think we gave been very lucky to find each other too.

Milosmom I am loving the new pic you've attatched he looks gorgeous and so grown up now too :)

Hope all are doing well x

Hello everybody, long time no news from my side but here I am.
So my Maia is doing pretty much the same.
She is now 12 mths old and 2 weeks, but she still cannot sit(only supported) she cannot hold her had very well.
She developed some kind of epilepsy. So after coming from Germany at the end of August she had 3 times(2weeks distance one from the other) seizures.
She is now under medication(Depakine and Phenobarbital).
After all these we started also kinetotherapy. She improved the muscle tone for the legs and for the lower part of the body, but for the upper part(hands and neck) the tone is pretty low.
She is rolling over and she is trying to do something like crawling but using only the legs with no arms.
In the last 2 months we noticed also some other behaviours that are pointing to CVI(Cortical Visual Impairment) also known as Delayed Visual Maturation.
They are : innatentive visualy, light gazing, head shaking horizontaly, visual fatigue.
It is pretty clear that she is seeing something because she can follows objects, she is able to grab toys after seeing them, she is following with her eyes people arround, etc., ut nevertheless her visual accuity and response are not normal.
Now we are looking to go in 3-4 months to a new medical check up. the 3rd MRI and other tests.
The first and 2nd MRI's came clear but if this CVI diagnosis will be confirmed there is a big possibility that she will have additional neurological disorders which can be seen when she is older.

SO these are my news, not very encouraging but that's it.
Live with it......this only that we can do.:\(
Waiting....hoping....

oh claudiuf, i am so sorry to hear your most recent update and hope that you and your family are doing as best you can. the fact she is seeing something and attempting her own style of crawling is wonderful as at least it means she is trying to adapt her own strengths and ignoring her weaknesses. i really hope the drs are able to give you some sort of answers soon as i know the waiting and uncertainty is impossible but, if there is one piece of advice i can give to you, please try as best you can to see through her difficulties and just enjoy your daughter, it really does make things so much easier, i know compared to you i have probably had it easy but focusing on zachariahs lack of sight really got me down but focusing on his crawl or playfulness made it possible to get through all of this for me! maia is now 1 year on and look at all the wonderful things she has achieved that you weren't sure she would and i bet she is so beautiful, our children are so special because they are ours and so loved, good luck with the tests, please look after yourselves and i wish you all the best. thinking of you

hope everyone else is doing well, thinking of you

oh claudif, i'm so sorry to hear that you are going through such difficulties! you are in my thoughts and i very much hope that you can find medications that keep the seizures under control.

CKJ, also thinking of you and hope that you are having some luck with the diagnosis and that it will be operable. my fingers are crossed.

also, welcome to both lydias -- i'm so sorry you are also going through this but i hope you both get some answers soon. i understand the desire to stay home from work and spend it with your child. hopefully you will be able to work that out.

yes, this is a wonderfully supportive group. it has boosted my spirits when i've felt low. i don't check in as much as i used to since milo's diagnosis but am so happy to have "met" everyone here.

thinking of you all-
jodi

(waiting4baby - thanks for the compliment on milo's pic!)

Hello everyone
Thanks for this really useful and interesting chat. You are all so brave and all have truly beautiful children (love the pics). We are in rather an unusual situation and really could do with your advise. Here it goes...We have two beautiful children who are adopted and were told recently that their birth mum had given birth to another. WE have fantastically been asked if we would like to have that baby join our family. We have not met the baby yet as we still have to be 'approved' to have another child, but have just been informed that there are some concerns with his sight. At a 7 weeks check the foster carer told the medical advisor that he did not appear to be fixing and following with his eyes and did not tend to make eye contact with her when she was feeding - his subsequent examination showed that at 7 weeks he could not fix on an object or follow it - although apparently the examination of the eyes was OK and he is meeting all his other development milestones. As a result he is now waiting for an appointment with the local Ophthalmologist. Because he is 'waiting for adoption' we are assuming that ALL tests will be done asap to rule everything and anything in or out rather than 'waiting' to see if his sight returns (we have been told for 'isolated' DVM it SHOULD return when he is 12-16weeks but could take up to 6m...can it take longer than this????) . We obviously need a complete and full picture of his long term prognosis before we can work out what is best for our family. SO the advise I need from you guys is...what 'list' should we give to Social Services of tests we should be asking for so we can make that decision as soon and a fully informed as possible? The ones I have got from you guys already and other websites are...
1. Visual Evoked Response (VER, also called a Visual Evoked Potential, VEP) - to ensure that the early visual pathways are intact and functioning.
2. Electroretinogram (ERG) to assess retinal function
3. CAT scan or MRI to evaluate brain structures.

Please help...are their any more tests that can help rule out more serious conditions?
xxx

[Modified by: Minimixn30 on February 13, 2009 07:34 PM]

Hello minimixn30, firstly I think you are wonderful to have already adopted 2 siblings and think it is fantastic that you would consider the 3rd.

To be honest, and I don’t think you’re going to like this, DVM is all about waiting. Really Dvm should be a diagnosis given only after the child’s sight has returned as you can see from all our posts, each of our children were diagnosed with DVM and most are no longer under this category.
You are right in the tests this little one will need but I think you will be lucky if you can manage to get them very early as the reason we have had to wait is not only that hospitals have long queues it is also because the child’s eyes and brain are still developing.
My son is now 14 months, we were originally told it was DVM but as he is past 9months it is no longer the case and so he is actually undiagnosed. We have had all the tests and his MRI came back normal, however we have been told it may be that something will show up at 2 when he may have another test as his brain will have developed more by then. You will see from other peoples posts that from these 3 tests some have then gone on to have blood tests so that may be something that would need to be added to your list. ? I don’t think you are likey to get a full picture of this childs condition unless you wait until he is 2, if it is dvm then from 6-9 months he will be like any other boy. In fact our drs seem to now be waiting until he can tell them himself what he can and cant see! The opthomologist appt will be useful as once they have seen the back of this child’s eye they will know if there is something physically wrong with the eyes which would then change the diagnosis.

My son has visual problems but he is doing fantastically and although I have no ‘normal’ child to compare him to, I really don’t think he has caused much of an additional problem. Yes, we have the worry and emotional turmoil, a few hospital appts and house visits, I have to be careful when using loud household appliances, he may require extra attention but he is a lovely, happy, little boy. He eats well, is incredibly nosey, has just started walking and reaching all his milestones to date.

I hope you don’t mind and I apologise if I cause offence but I just wanted to share my thoughts… if this 3rd child had no problems would you have taken him on no question? I don’t know the circumstances behind the birth mother giving them up or whether she’s likely to go on and have another 5 but I think if you could keep the siblings together it would be wonderful. I am sure your first thought goes to the children you already have, but, I know that one thing I wished for with my son was that he could have had the love and support of an older sibling who would have had the patience to sit and play with him, help him develop and love him unconditionally. Surely the children you have could only love this new addition to your family and to know you took this little one in would just be another wonderful thing you’ve done. (again, I’m sorry I know it’s none of my business)

I know maybe I have it luckier than some of the mothers on here as to date we have found no other problems with zachariah other than his sight, I know children at this age have so much more to develop that you cannot be certain of the outcome but he really isn’t making our life difficult at all, and I’m sre all the other mums on here would back me up on that.

I hope this helps and best wishes, I hope we hear from you again soon =)

hope everyone else is doing well, liavt have you had any blood results yet?

zachariah is fine, i've been told around here all the children go to mainstream regardless of sight, only major disablities dont, he just may need more help but we dont know yet. they're getting me info on a nursery for when he's 2 1/2 which is supposed to just help him along a bit before he goes to the one for age 3 (didn;t really understand so hoping i'll get more details soon)

Hello Waiting4Baby
Thank you so much for all your advise. We have no idea what we are going to do...but in answer to you question...had this not come up YES we would have had him, no questions asked...having said that , we did think long and hard about having a third child (a challenge for ANYONE whatever the circumstances!!!).
The trouble with the internet info is that it is all slightly conflicting...some say that if the sight returns then the vision is as good as new, others say it never fully recovers...some say the child develops 'normally' if the sight does return, others say that they often have development/behavoural problems, epilesy etc etc. My hubbie and I are quite 'factual' people and we want to know percentages...the question I guess we really want answered is...if it IS DVM and the sight returns at 12-16 weeks...what % of these children go on to lead 'normal' lives? and if they don't, what type of 'challanges' do they face?
I know it may sound selfish but I think we will only have him if he regains his vision and has a very high chance of developing 'normally' -I don't think that we can or want to cope with a child with special needs. I am not sure if it is a good thing or a bad thing but with Adoption we DO have the choice - if I had given birth to him, then, like all of you, you have to cope? but given the choice....:\? I just don't know - it makes me feel physically sick just thinking about it . We have always said that a third child and a boy was the icing on the cake...my instinct at this moment in time is that maybe we should be happy and grateful just having the cake...
Your little boy sounds wonderful and what a relief that he is meeting all his other milestones - if he continues like that then the world is his oyster. .I was at Uni with a boy who was registered blind and he lived life exactly like the rest of us!
xxx
PS I'll let you know what happens and I hope you get a diagnosis soon.

thank you, i would love to hear how you get on. And thank you also for your words on zachariah, even if he doesn't continue to meet his milestones, i KNOW my son will achieve great things because i am never going to treat him as if he has a disability. i know that you need to take a lot of things into consideration but i just want to pick up on your comment about 'special needs' and i can honestly say, hand on heart i dont feel my son has special needs.... i mean i know he has appointments that a sighted child wouldn't need and loud noises scare him, i'm sure he will need extra help in school etc but with all the things that could be wrong with my son i think he got off very lightly and as you say seeing a blind boy at university living a life just like us - it's possible.
i agree it must be so hard for you to come to a decision as it doesn't have to be thrust upon you, and in that sense you are better off and worse off, better off because you will know from the beginning something is wrong and worse off because you have to struggle with the decisions!
i think the reason you are finding conflicting advice on DVM is very likely to be as far as i can tell any child whose eyes 'should' be functioning normally (ie all the bits that are meant to be there are etc) are automatically categorised under this one heading.
if you have read all the posts there has been at least one boy who took the correct path of DVM (FINN3). this is from personal understanding but i think the point about developmental problems is just that if they can't see or cant see properly then the incentive to learn things isn't there,( like lifting head up and crawling etc,) and it's harder to learn, (like you can't see how lips form for words or be shown how to catch a ball through watching etc). As for behavioural i would imagine these are things like certain environments would affect a visually impaired child, like something that relies heavily on vision and this is bound to cause frustration. (this is a personal understanding though and i could well be wrong)
i just wonder if because of your situation maybe you could see if there was a way you would be allowed to be introduced to children with such 'disabilities' so you know what your letting yourself into so to speak, or, at least see if you could speak to a visual teacher who would be able to put your mind at ease and speak openly about what you're likely to face.
you know i honestly believe a disability is on the whole only a disability if you make it become one. when i was at school there was a child with a prosthetic arm, he was about 7, and yet he was the coolest kid in the class because he made the best farting noises with this arm, he had no inhibitions, in fact one of his favourite tricks was to shake hands with people who didn't know him and yank his hand off leaving the 'hand shaker' open jawed but he found it hysterical! children have such a wonderful naivity about such things and if your are born with it there's no space for feeling sorry for yourself, you just get on with it and adapt far better than an adult who fals into it. i think its things like this that make me believe my son will be fine and if he's going to be, i have to be too =)

look after yourself and i really hope you find as much information that you can possibly find on all of this and that this little boy turns out to be ok regardless of your choice. i don't know how long the adoption process is but i do know dvm is a long process, thinking of you and best wishes w4b

CJK how are you, have you had a diagnosis yet, am thinking of you and wishing you well

Hello all!!

I haven't been on in a while, sorry for that. Over here in England Ive had so many appointments and places to go, things to see...

I do hope that everyone is doing well and that your gorgeous babes are all thriving!

Lovely to meet some of you on Facebook, SO nice to see pics of your little ones, they're truly beautiful!

Minimixn, very interesting to read your story. How great that you have already adopted 2 children. That really is a wonderful thing to do.
I dont really know what to say to you about the third baby you're considering. Its funny (please dont take this the wrong way), that you would be concerned about what would happen AFTER his vision came back, when that happening would be a huge miracle in itself. Although I completely understand that when given the choice, would anyone want to bring up a VI child?? One of the things I strongly believe about my gorgeous Leo is that if a visually impaired child is to be on earth I am very glad that the job of raising him was entrusted to me.

Good luck, and I hope it all turns out well for you and the little boy.

Leo is doing WONDERFULLY, my gosh he amazes me everyday!

We finally have a vison teacher coming on Monday, cant wait for that.

We have had so much support since I ve been here its great.
I have to tell you all, GO TO MOORFIELDS!! It was an amazing experience and the support and services that have come from our visit have been outstanding. Honestly I would really recommend asking for a referral. Especially Waiting4baby, they are so great and knowledgable there, maybe they'll help you get closer to a diagnosis.

Anyways, got to go. Really hope your all doing ok, and if not strength to you. We have THE best babies in the world ;-)

Take care, and those of you on fb, see you there!

Moorfields!!

So what a day!

The bad news is, that there is no miracle cure yet. But then we knew that, and still have lots of hope for the future.
Professor Moore was very nice and so knowledgeable. It was fab to talk to someone who REALLY knew his stuff. He says Leo's gene (CEP 290) probably wont be the next to trial, due to a couple of reasons. He did say the good thing about CEP 290 is that the retina and eye seems to stay 'normal' and in good health. He also said it is one of the most severe causes of LCA, but from what I know we got lucky and are at the top end of the spectrum with his sight.
They're not sure in how many years the trial will become 'treatment'. They're still waiting for permission to try it on children and with a bigger dose and hope to do that on RPE 65 kids towards the end of the year.
He did mention that there are a number of trials on different treatments such as the gene therapy, stem cell therapy and one other.

We were referred to the family support people who were great. She gave us all this info on local support and we will soon be getting a vision teacher.

While we were there we registered Leo as visually impaired, which was a hard moment as it was 'definate' you know? Apparent this will help us a lot with services and stuff so it is only beneficial.

Anyways it was a good experience and I would advise anyone in the same situation that Prof Moore is 'the man'. We have now been referred to a paed at Great Ormand Street who specialises in visually imapaired children. She will give him a good thourough check. We will also go back to Moorfields in 6 months.

Hannah and Gorgeous Leo :-)

Hello All!!,
Still trying to catch up with this huge thread!! And know who is who extra-please bear with me!!

I have found this a great help and a real source of informations since Lillith's diagnosis-and I hope that all the beautiful babies are well!!

Leo's mummy, I love what you have said about being given the wonderful chance of looking after your little boy! You brought me to tears-I really understand how you feel.

Lillith continues to be the light of my life. I have 2 wonderful older children who have been a real help to me, and my little girl continues to come on in leaps and bounds.

She has become a mummy's girl and really panics when with new people. I am happy to be able to say that the hard work we do on a daily basis is starting to pay off and the distance Lillith can see is very obviously becoming greater. At the moment she appears to see about 20cms.

She is getting more bothered by lights and we have the most beautiful sunglasses-but will have proper glasses with reactalights at the age of 1. We will also have the 'vision test' at that point in Birmingham Hospital (I'm also in England).

I hope to catch up more soon-your right Leo's mummy we do have the best babies in the world!! Good luck and take care all-And thank you all so much for the support-truley insperational and wonderful women... you really have helped me imensly-thank you!!
(If anyone want's to add me on facebook I'm Lydia Bazeley-just let me know who you are when adding me!!)

Lydia and Lillith xx

Hi all.
A month ago we went to get the results from our son's second MRI. He did one at 8 months and one at 12 months. And there was bad news. There was not going to be any surgery. The MRI showed that our son's brain hadn't developed at all during the past 4 months, there had not been any myeline development since the first MRI. They now strongly suspect that our son has a neurometabolic disease.

No exact diagnosis however, and they will try to investigate more, although the doctors too seem to think that our son's case is a mystery. He doesn't fit in to the neurometabolic diseases that are documented. But of course new ones occur now and then.

Time will show if our son starts losing his ability to sit, hold his head up etc. In that case we know that it will not end well. But it could also be that he develops slowly slowly and will learn some things. He will always be blind though, and always delayed.

Take care!
Liavt and Claudiuf - it seems our situations are a little tiny bit alike. I wish you all the best and really hope you get a diagnosis.

Here here, leo's mum 'blessed to raise this child' - beautiful and so true.
I'm glad you are getting so much help and info atm and hope it continues and that they're able to start on treatments soon. I think should no news be given to us at next appt in July I may well ask about moorfields, thanks. Take care

Tink: I am glad lilleth is bringing such joy and hope all goes well with the glasses etc, this thread certainly is long and I don't envy anyone trying to catch up from the beginning :) loook after yourselves and may she thrive

Cjk: I am so sorry to read your news and can't begin to imagine what a time you must all be having at the moment. I am also sorry to hear he will always be blind and hope from the bottom of my heart that you find despite this your son manages to have a wonderful life, my thoughts and prayers are with you, take care x

Hello all,

CJK can you tell me a little bit how your son evolution was until now?

My Maia is pretty much the same. She is able to see something but we don't know how much. she is still missing the hand coordination.
She improved her muscle tone, and also the head stability is better but of course not normal.
The main part teh we are fighting with is the sitting. She still cannot sit by her own.
Otherwise she is very active, she is rolling over continously, she is grabbing toys or other things.
And another thing since she is on Depakine for seizures she had fewer seizures and no so strong like before.
I'm afraid that this part with sitting and the balance is linked with her sight problems..

Hello All

It has been wonderful following your news, I have not been on this site since last August. I thought I woud post a message, hopefully not too late, to reassure minimix that if it is DVM then sight can return normally. Reuben is now 11 months and his eyes are working normally now and his long range vision is most definitely in ( he keeps staring at clocks). At 3 months he could not see a thing but by 4 months things were definitely on the move and there is nothing that would make you think there was ever anything wrong. He also managed to grow out of heart murmours that were picked up just as we were out of the woods with DVM, hence why it has taken so long to catch up with everyone.

you are all inspirational. Bless you all

Thanks Rubansmum for the advise. Interestingly he WAS now 'fixing and following' at 14 weeks old although not maintaining it long enough to be considered 'normal' but this is a huge improvement from previously however...we have now been told he is now not not meeting his other development milestones e.g lifting head, grasping out for toys etc. He has now been referred for 'tests' so we are waiting to find out the results of these before proceeding. Again it could just be that he is slightly 'delayed' or it could be major. Only time will tell I guess but at some stage in the next 6 months we will have to make a tough decision on what we do.:\(

Hi cjk and claudiuf I hope things are going well with you and you are having a lot of help from the specialists in helping your little ones
Reubens mum- what wonderful news I am so pleased for you all
Minimix- that sounds great he had started to fix, with any luck the other delays will be in synch with the delay of his vision. I do hope the tests come back with good news and that you and your family are doing well with yourselves and your decision

Not been on much recently as not much to report

Zachariah is doing really well but still not right ... We have a vista coming tomorrow who wants to start coming weekly, I've been putting this off as I feel what they can do for him I am capable of doing myself as I stay at home..... He's still very weary of new places and noises which makes it hard for me to get out and meet people. But he's just beautiful and definitely using whatever vision he does have to the best of his ability. Our next opth appt is in July where I'm expecting a follow up MRI to take place

Hope all is well with everyone, thinking of you all

Hello all!!
I hope you and your families are all well!!

I thought it was time to say hello and 'check in' with you all!! My Little princess is 7 months next week and time has just flown!! At the beginning of April we finally got somewhere-after lots of kicking and screaming from me... we now have portage, Physio and O/t support for Lillith-I feel I can now relax a little!! For Now!!

Of course-now I've fought for this my little monkey has come on in leaps and bounds-in the last 2 weeks she has started rolling to the left and on to her tummy and she can now sit for a couple of minutes unaided!!

She appears to be 'seeing' further and is responding beautifully to voices-we are forever praising her for 'finding' us using her hearing and turning.... I do find it harder now though sometimes because I now notice the little things that show she cannot see the things she appears to.

She also appears to have find a point where her nystagmus is stiller and tilts her head in a cute way to see better!!

That's a bit about us!! I hope to hear some news from you all soon-thinking of you all and your beautiful babies!!

Lydia and Lillith xxxx

Hi all!
I wanted to let you know that our son is now 16 months and has learned new things. He rolls around now and has learned how to get up to sitting position and then back again etc. So he has not lost any skills and the doctors no longer suspect a neurometabolic disease.

However he is still a mystery and the doctors can't really say why he is blind. His development is slow, maybe because of his epilepsy but he is a happy boy in his own world.

Unfortunately communication is not working so well. He is happy in his world but he doesn't really show any interest in toys, our voices, games etc.

We are alright at the moment but it is hard to accept the fact that our boy is blind, in his own world completely and that he has epilepsy. But it helps to see a psychologist.

Take care all!

CJK, I am so very happy to hear that your son is doing well and that they no longer suspect a neurometabolic disease!! He may take a bit longer but it sounds like he is coming along -- he will do it at his pace, and truly the best thing is that he his happy. He has wonderful parents and I hope the communication issues start resolving themselves. I've read so much about visual impairments and the blindness can definitely impact that in many cases.

We are doing well here. Overall Milo has been a little slow on his gross motor skills but not too bad. I'm just so amazed and proud of how far he's gotten without sight. He's been sitting for months but in the past few days has figured out how to get from lying on his back into sitting -- he's so pleased with himself, and I have to say I'm so relieved as I thought he'd never do it because he really seemed to prefer being on his back or standing instead of sitting. He's also been pulling up and standing (holding on to us) for about a month now and loves walking around the house while we hold his hands. No real words yet but he's very sharp -- when you ask him "Milo, where is your head?" he will bang his little fist on his forehead, and can also point out his tummy, ears, mouth, toes, knees, hair and sometimes nose. We're also teaching him sign language and he has learned "eat" and "more." So hopefully that will help if he's slow with learning to talk.

So after all the rough times many months ago things are looking much better and we are so proud of our little boy.

Best to everyone!

Hello Everybody,

Coming back with some news .
Maia is pretty much in the same condition. She is 17 months now but she is not sitting, she is not walking, she is not speaking.
The vision improved she can see for sure.
We just had another MRI which is clean.
The news is about VEP. Her recordings are showing a delay in transmitting the information from the eye to the brain.
It seems that for this part the myelin layer is responsible, and because she is late in development it seems that is a general problem not only for the vision.
We have to go further with the investigations for genetic or methabolic rare disorders, because it looks that nothing can be found with the usual investigations like MRI, blood, LRC etc.

Hello all,

Lilleth sounds like she's doing brilliantly, how wonderful for you, I totally understand about the moments of knowing it's not all right and zachariah also has a head tilt which to the rest of the works looks like an inquisitive profile shot

Cjk that wonderful they've rules out the neuronetabolic disease and I'm sorry the epilepsy and blindness continues, not knowing the cause is very frustrating. It sounds like he's coming on well though and I've also heard that visual impairment can effect the childs interest in socializing and effects they're learning for speech, so I really hope it turns out he is just delayed and will continue to do brilliantly. I am glad you have a pschologist to help talk through things, I don't know what is do without all of you

Milo sounds like he's doing wonderfully, and how clever to be able to point out body parts

Claudiuf I'm so sorry you are still no closer to finding miai's diagnosis and hope these tests help you all find a way to help your beautiful girl, I'm sorry her movements have not progressed but it is wonderful that she can at least see around her giving her some form of stimulation

I wish you all all the best.

Zachariah is still a mystery which is driving me crazy and I feel he is digressing slightly. We are seeing the opth and neurologist on 6 July so am hoping to get a few more tests and insight but not expecting too much.
He still has a very obvious head tilt for when he really wants to look at something and other times he grabs things without even looking for them. I have noticed one of his eyes has started to slide into the nose corner now so although it doesn't wobble there's something there. He still doesn't point and can't talk all he can do is shake his head for no or 'huh huh huh' for everything else, were being referred to a speech therapist, although I wasn't initially worried I am concerned that he doesn't make any other sounds or appear to want to speak. He is still very clingy, sleeps next to us and cries unconteollably in funny lighting or at funny noises. He still has a very limited understanding and doesn't seem to 'learn' things. I'm hoping it will turn out to all be eye related and he's just taking his sweet time but am finding it hard at the moment without a clear understanding of his condition.

We've started taking him to 'tumble tots' which is like a soft play activity hour and he's loving it despite his ltd vision, but the children are afraid of him as he wants to grab/feel them because he can't see them properly and that's just heart breaking. Do your children grab at other children? How do they interact with others?

Hi thought I'd do another quick update as just been to opth and neoro....... They still agree it's not right, noted the right eye turning inward and were shocked at how prominant his head tilt was as no nystagmus. We're now going more down neurologist route and having blood tests, urinary tests, another MRI in November, a developmental assessment and they've agreed after all this they will refer us to great ormonds hosp (they said would be better than moorfields as for children) ..... They've confirmed we're just looking for a diagnosis not a cure and say as they haven't got a name yet we're probably quite lucky that it's not too serious. Zachariah is doing well but not speaking/pointing/copying.... He doesn't socialise much with children as comes accross as rough to them, he had unturned foot we're waiting to hear about from physio and referred to speech therapist. He's just learnt how to dance which is the cutesy thing ever as he's always loved music.

Hope all going well with all of you, take care x

Wow, the length of this thread must be breaking some kind of record!

It sounds like everyone is coming along nicely, despite some lingering mysteries. I hope that answers come soon and offer some helpful solutions.

Also, I think we would all like to see video of this dancing that Zachariah has discovered!

Joe is doing well, now 13 months old. We had our first visit from a VI teacher (only 6 months after requesting one!) who was able to tell us more about what he can/can't see than any doctor has. His range is still not great (he loses you if you back up more than a few feet from his face) but he can see clearly enough within that small space to laugh when we make faces.

He didn't gain a SINGLE OUNCE between his 9-month and 12-month checkups, so now we have his growth to fret over too. It's a shame, because eating/sleeping were the things we thought he was really good at. Here's hoping the sleeping remains undisturbed!

Still way behind in gross and fine motor, but making strides in therapy. He does sit without help now, and suddenly seems interested in crawling -- though not very good at it.

You all are on our minds a lot. I hope you're enjoying your summers!

hello, gosh i don't know if people are still reading this or not but i will give an update on us anyway....

Well sad news to start, i was pregnant with baby number 2 but sadly she was stillborn at 20weeks, we named her Angel. its still early days and i'm struggling to come to terms with it but it has really hammered home how blessed we have been with Zachariah. She will be in our hearts forever.

Zachariah now 22mths is doing brilliantly with his vision and appears to be seeing everything although has ato work very hard to see and has an awkward head position. he also appears to not see when distressed or ill.
We are still waiting to find out what is wrong and seeing the opth, paed, vista, neuro etc for answers. he's actually due another mri in november which will either explain it all or hopefully rule out brain damage completely.they're going to do blood and urine tests at the same time.

we also have added to the list now a speech therapist as he is still yet to say ANYTHING althougb appears to understand a lot so quite a clever little cookie. they're wanting to start him up on some home visit scheme with them too so we'll see

AND

a physio is on the list as he has an inturned left foot, which they said not to worry too much about until he's 3 BUT he also appears to have one leg longer than the other so thats being checked out too.

We've not put him into nursery yet but tha is the next step although still waiting to be assessed for the one on one help.

We just started him on tiny talk sign lanuguage and it looks like it will work brilliantly although due to recent life crapiness haven't been for a while but will try and get back into it soon for him as all he knows so far is 'milk' but it's been brilliant.

i hope that all of you and your little ones are doing well, i'd love to hear how you are all getting on now and pray that it is all good. thinking of you =)

oh waiting4baby i am so sorry to hear about angel! you and zachariah sound like you are doing really well, though, and i hope each day gets better and brighter.

all is good with us here in new york. as far as milo's vision we found that he can see lights, which isn't much but it's better than nothing. hopefully it will help him with mobility, etc. he has started walking!! well, right now it's just back and forth between my husband and i, or just very short distances but he is getting sturdier every day. i am so proud of him!! i thought it was going to take much, much longer because he's always been very cautious, but he seems to really enjoy the fun of trying to walk. we've also been getting some great services and i've learned that there is a toddler program here for blind kids when he turns 2. it will be great to have him be able to play with kids his age who are in the same boat. we really don't get the chance to play with other kids very much and i worry that he is not getting that experience.

we've been getting speech lessons for the past few months and i have to say milo's language seems to have taken off since then. he wasn't saying anything at all at around a year and in the past 3 months he's up to 10 or 15 words and new ones are coming every day. like zachariah he seems to understand what is said to him so hopefully he will just keep coming along. i really can't wait until he can talk and i can explain things to him.

anyway, i don't check in much over here anymore but great to hear how you are doing waiting4baby. i hope everyone else is also doing well -- this has been such a great forum.

Hi everyone,

Its been a long time since I've been on here. So sorry to read about your hard times Waiting4baby. Wish you all the strength in the world.

As for Leo he is doing great, he's amazingly clever, he can say in excess of 40 words! He's 21 months now. Still not walking, but he's getting there.
He goes to nursery 3 mornings a week at the moment as im at college. Loves it there. I was so worried initially but he's doing really well.

I am a bit panicky at the moment because we're waiting to get a second kidney scan, they found cysts the first time. Normally that is nothing to worry about but aparently with LCA it can be a sign of a condition called senior lokem syndrome which is very serious and life threatening, so im just praying its not that. He has no other signs.
Hope everyone is doing ok, and that your babes are all great xxx

Thank you both
milos mum, it sounds like he is doing brilliantly, how wonderful that he cam see lights and is starting to walk and talk. It's great there's a service when he hits 2, I'm sure he will come on leaps and bounds with others to follow. We also don't get much interaction with other children so I've joined up to a load of groups recently in the hope it will help. Fingers crossed milo continues to do brilliantly. X
leos mummy, how clever is Leo to know so much!!!! That's fantastic, can I ask at nursery does he get one on one support? We've been put on a waiting list for assessment for this service but I don't know if we'll be accepted.
I'm so sorry to hear about the cyst scare and hope that you get a scan date quickly to avoid any prolonged worrying and I pray that it will be nothing, and your amazing little boy continues to show off at how clever he is :)

I'm so glad people still pop in on here as it's lovely to hear how you're all doing and I've found this thread to be a great help and hope you have too.
we're getting into Christmas preparation now and I have my 'santa' hat on...... Zachariah is spoilt rotten because he's just too darn cute lol
Take care and good luck with all you're doing, you're all in my thoughts and prayers x

Hello all!!
It's wonderful to have some news off everyone-I frequently check 'over here' and it's fantastic to get updates!!

Waiting4baby i am so sorry to hear about your loss, I know that you will forever have your Angel in your love and thoughts, I hope however that you are able in time to get to terms with your loss.

You and zachariah sound like you are making huge steps, and hopefully you will soon get some assesments and support from the services.

Milo's mum-sounds like your little man is doing really well-and it will be fantastic for him to meet some new friends when he gets to his new group!!

Leo's mummy-what wonderful news-I'm glad he's settled in well at nursery! I hope that they don't keep you waiting too long for your scan-please keep us updated on your news.

Lillith is continuing to be a joy to me-I have found this year very hard, This week I left my job as i took redundancy as I couldn't face fighting for my job. I have found a job in a local shop which is good-but already have had to miss a day due to sickness-damn bug's!! So that's worrying me!!
Lillith is 13mths now and says around 30 words, she crawls and cruises and is so cheeky!! She holds her head tilted down and to the left to still her nystagmus and will keep her new glasses on as long as we are not walking outside in the pushchair!!

She has been cleared from Portage which is great and once walking physio may discharge her too!! We have been going to a group called 'Vizzi Babes' since she was 16weeks-this is a group of visually impaired children-its a small group run by her VI teacher.

We had all the wonderful discarge/how well she is doing news on the 4th November-which was great-only 2 hours later we where told she may have a form of epilepsy which results in her having abscence seisures-so a bit of a bittersweet day.

We have a EEG on the 30th November and then her EDT's on the 4th December-both in the same week!! Poor monkey!

Anyway sorry for the waffle!! I think frequently of you all-take care everyone xxx