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.