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.
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