[hdirks]

Sorry this is very long!
My daughter is 10 months old. When she was born they used the vacuum and she spent 8 days in the NICU because of the swelling on her head they thought she had a subgaleal (sp?) hemorrage. She was not premature. It ended up not being this but they did find that her left ventricle is slightly larger (they think this may be due to some damage or lack of oxygen in utero but don't think it will effect her-noone really knows yet) she also has some lack of white matter on this same area.
We also found out in the NICU that she is severe-profoundly deaf bilaterally. She has had hearing aids since 3 months and they do not help her at all. We are scheduled for a consultation for CI but still have not met with them yet.
She also has MANY developmental delays. She has been in physical therapy since she was 5 months old and recently started occupational therapy as well. She cannot sit up on her own, will not put any weight on her legs and therefore cannot even stand, refuses to put weight on her arms during tummy time so she does not even push herself up and just really got the rolling down thing over. So gross motor skills are FAR behind, while fine motor skills are about average.
She also has vision issues. Her left eye is lazy, it also is a cross eye, and she has nystagmus which they think is from spasmus nutans (no seizures-eeg came back normal). However it is not a typical lazy eye or cross eye because the eyelid does not move at all. She rarely blinks this eye-but she can close it and does blink on occasion.
Lately she has been showing some signs that I don't know are consistant with deaf babies or if she may have something like autism? She is more content playing by herself than anything else. Absolutely obsessed with her hands. She scratches EVERYTHING. When one hand makes a movement or bangs a toy the other hand does the mirror image of it even though it is not touching anything. She always bangs her toys on her head and lately does not make hardly any eye contact.
We have seen 3 opthamologists, neurologists, pediatrcians, geneticist, therapists, 3 MRIs, 2 CTs, head ultrasound, eeg, ect. and NOBODY can tell us ANYTHING!
It is really frustrating trying to figure out how to help her best when we don't know what is wrong. Does this sound familiar to ANYONE out there? We were thinking maybe Wildervanck syndrome but when we asked about it to the geneticist she said it might be a possibility but it still doesn't explain her developmental delay.
ANYTHING you can say will help me. thank you so much!

[Speeds]

hi and welcome.

Glad you have found us and I am sorry that I have not got time atm to reply properly but I will.

Thinking of you
xxxx

[Speeds]

Hi again

Sorry to run off yesterday. Life is sometimes megga busy but I did not want to go out thinking that I had not even said Hello.

Re reading I am not sure that I have anything else to add except to make sure that the consultants are working in a stepwise fashion to identify what is wrong.  Unfortunately, as heartbreaking as it may be, there may not yet be a diagnosis for what is wrong with your baby.  It can be like a double edged sword - knowing what is wrong and being told that your child has a life long condition can be as bad as not knowing.

The best thing is to encourage your baby to do as much as possible and keep plugging away with the doctors.

I wish you lots of love and please keep us updated
xxxx

[paula]

Hi and thanks for joining the forum!

We have 2 children with additional needs - Elise our daughter who is 6, has a chromosonal abnormality and our son Michael who is 8 still does not have a diagnosis although like your daughter has lots of different parts to his disability. It is soooo frustrating as if we knew what his diagnosis was we would be better prepared for the future. If one more 'specialist' tells us that a diagnosis does not matter and the therapy is still the same then I think that I will scream!!

Know that this is not much help - sorry! Two things I would say though are 1. Your daughter is still young and perhaps (?) they may be able to tell you more when she is older. 2. Don't forget to enjoy your daughter. From my own experience we got so wrapped up with getting answers and 'therapising' our son that I feel that the fun bits passed us by to a large extent. One thing is for sure, the pleasure that we get from our son doing the most smallest of things is immense and the things that others take for granted are HUGE for us!

Take care and keep in touch x