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!