Can anyone help me with a Diagnosis?
Hello, My name is Suné Stander from South Africa and I have a blind baby (Zack) :) and he just turned 9 months today. I was wondering if anybody on here could help me with finding a diagnosis for us, as the doctors are unable to do so, and if not, we would like to just make LOTS of friends.
Zack was born normally, a little mucus on the lungs at first in NICU, but then all good after that. At 2 months we noticed that he wasnt tracking anything and not blinking at anything coming towards his face. We took him to the paedeatrician and was admitted the same day to the hospital for a possible brain tumor.
We went to go see an opthomologist to check out if there was something wrong with his eyes and the result came back that his eyes are perfectly normal.
We then got booked in for an MRI and the result came back normal again.
Then....... we were sent to a paedeatric neurologist who diagnosed Zack with Leber congenital amaurosis.
We googled and searched for months on what we could do, what treatments we could look at etc etc. All this time going to OT and physiotherapy.
At 7 months (we had to wait for his eyes to mature) we went and had an ERG and a VEP done.
Surprise - the ERG came back normal - which then excluded the Leber congenital amaurosis as the reseceptors in the eyes are working normally. However, the VEP tested flat.
All that we are left with now, is that Zack's optical nerves are not working at ALL and we have no diagnosis. I am hoping one of the mommies on here would have had the same thing and tell me what it could be.
Have a great day everyone.
Suné Stander
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Posted by Amber Bobnar on Jul 23, 2012 - 10:08am
This sounds a lot like what other families go through... running from doctor to doctor and getting a diagnosis then finding out that the diagnosis is wrong.
I asked for some feedback from other parents and one mentioned Optic Nerve Hypoplasia. How does the optic nerve look when doctors look at it? Do they say it looks underdeveloped?
I would also recommend getting a second opinion on the MRI if you can. MRI's can be really hard to read and sometimes the first doctor will miss something. Have the MRI sent to a new doctor and see what they say.
If you want more info on ERG's and how they are read you can check out this article: http://webvision.med.utah.edu/book/electrophysiology/the-electroretinogr...
And another great place to meet parents is the Yahoo BVI-Parents group: http://groups.yahoo.com/group/BVI-Parents/
Posted by Sune on Jul 26, 2012 - 3:42am
Hello Amber,
The optic nerve looks perfect. We are re-doing the test on Monday with a different doctor, so maybe we will get a different result.
I have read up on Optic Nerve Hypoplasia and it doesnt seem to fit, as there is nothing visible wrong with it.
He was only 3 months old with the first test, so lets see what happens on Monday.
I have sent the MRI to 3 different doctors and all of then concur with the fact that it is normal.
I am now wondering if it could be something like CVI.
Thank you so much for answering. I love knowing I am not alone in this.
Will check out the yahoo group now.
thx.
Suné
Posted by Amber Bobnar on Jul 26, 2012 - 8:52am
CVI is often related to other symptoms as well and can also be associated with a seizure disorder - maybe you could ask for an EEG to check for seizure activity.
My son doesn't have CVI but he does have a seizure disorder and we had no idea that he was having seizures until we had the EEG, so even if you've never seen a seizure that doesn't necessarily mean that Zack isn't having them. Since you're still trying to figure out his diagnosis it might be a good idea just to get the EEG and check that off your list.
I know how hard it can be to be searching for a diagnosis - and how bad it feels to put your child through so many tests. I did write about our experience with EEGs if you're interested: http://www.wonderbaby.org/articles/eeg
Posted by Sune on Jul 27, 2012 - 2:25am
Hello Amber,
thank you, that was a very informative read.
I will ask the doc the next time we go in to schedule one. I just hope they have the facilities for a EEG here.
We had to travel 1600 km the last time for the ERG and VEP to be done. :(
I have thought of this before, because Zack looks like he gets a electric shock sometimes. It doesnt happen often, but I have noticed it a couple of times, but the nanny said shes never seen it.
But as you say. We live on check lists, so that would be a good one to tick off.
thx. Suné
Posted by kmccoy on Jul 30, 2012 - 11:05pm
Sounds VERY familiar. We also thought our baby was fine until about 3 months. At that point we noticed no fixing and following and mentioned it to the pediatrician. It took some convincing, but he finally believed something was wrong as well and referred us to an ophthalmologist. The original diagnosis was ONH, and we went to all the specialists associated with that and did all the testing associated with that. With all the tests in and everything looking normal, we decided to get a second opinion. Second opinion said no ONH, maybe CVI. Continue with the specialists, continue with testing -- this time genetic -- continue all normal outcomes. Neurologist decides to send us to pediatric neuro-ophthalmologist in neighboring town for "tie-breaking" decision. 6 month wait getting in, nice, thorough examination, but no answers. Optic nerves look small, but not ONH-like. He admitted he was stumped, promised to think about it and look into it more before our next appt -- the typical 6 month follow up -- and told us to ask the neurologist about a couple of things -- mainly the possibility of a muscular disorder. Meanwhile, neurologist has discounted muscular idea, but has no new ideas.
Our baby is 20 months. We believe she can see something, but of course are not sure WHAT. But the main concern is her development. She doesn't sit, crawl, bear weight on her legs, or use her hands for anything (except for chewing on one of them)! We have therapists. We see very slow -- v e r y s lo w --progress. And we have no idea what to expect or what's going on, really. All the therapists and doctors seem stumped. Everything is normal -- except our baby is a 20 month old performing at a 4 month old level.
So -- this is no help to you at all except to say you are not alone. Hang in there, keep trying, and hopefully in the end we will all have some answers! The thing that gets me through every day is trying to focus on the present. I really, really wanted another baby, and I have one! And like it or not, she IS growing up. She will not be my baby forever. So I'm enjoying every second right now! And trying NOT to worry about the future!
Posted by Sune on Aug 07, 2012 - 5:47am
Hello kmccoy,
Wow, it's like you are telling my story.
It is very, very nice to know that I am not alone, but also sad to think someone else is going through what we are going through. And not the fact that he is blind, but the un-known of it all. All the doctors looking stumped and confused. haha. At least we are giving them something to think about.
update: I went to the opthomologist and he reckons Zack's optic nerve looks a bit small this time. Almost like it hasn't grown with his eye. We have to see him again in a months time to exclude some diagnoses that causes the optic nerve to dissapear or something. Not sure of the name now.
He suggested that at the next appointment, if he is happy that the optic nerve is still the same, we should put some glasses on Zack to help stimulate the brain to find an alternative pathway. He was sure that Zack responded to the light he shone in his eye's. I didnt see it, but hey, i'm all for trying new things.
I will keep you updated if you wish on how the glasses thing is going. Perhaps you could also try something like that with your little one.
With regards to the weight bearing and all the rest. It really is the same thing we are struggling with. He is not rolling, not crawling, not pushing up on his arms, not pulling with his arms, still shaky head control and no leg weight bearing at all. I have gotten Zack to eat Flings ( dont know if you have them - cheese curls maybe ) by himself. He absolutely loves them, and I try and motivate him with it to try and find them on his high chair. I know they are not very healthy, but if it makes them want to do something, give it a shot. Thats the only thing he will hold and eat, the rest are too slimy and cold. haha.
Thank you soooo much for your reply.
I would love to hear from you again.
Suné