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.