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