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

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

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

Hi CJK,

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

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

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

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

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

Hi All,

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

Thanks
Hannah

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

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

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

Hi ahh,

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

Hope you're all well :)

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

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

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

hi

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

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

Take care!

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

marieke

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

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

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

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

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

Thinking of you all...
Jodi

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

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

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

Keep you posted! Marieke

Hi there,

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

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

Love Marieke

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

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

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

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

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

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

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

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

Thinking of you all...
Jodi

Quote:

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

Hello all,

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

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

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

Anyways hope everyone is well

Hannah