Diagnosis

[Guest guest]

Hi everyone,

I am just recently joining the CHARGE group. My son was born April

30, 2005. He had/has bilateral chaonal atresia, ptosis (both eyelids),

one eye looks out, his one ear is shaped differently, severe loss in

left ear, mild loss in right ear, heart murmur and left lip droop. (I

think that's it) He was in St. Children's Hospital for about a

month, because of the chaonal atresia. Besides that he can eat on his

own and has excellent motor skills.

He had a chromosome test done when he was first born for CHARGE and

it came out Normal. Then I was told he could still have CHARGE. So

this last November we went down to St. to meet with Dr.

Davenport the Geneticist. She told me about a Gene test we could do

that is fairly new. So we did the gene test and just got the results

back today. Our Doctor was on her cell phone and I didnt really have

time to ask any questions. But this is what she told me.

That they found something different in the gene they look at for

CHARGE from my side, but she doesnt think that it is what caused his

problems. Apparently she knows of another family with the same

situation and wants me to call her back in one year to see if she

knows anything else because they are still working on the research.

So we cannot yet say he has CHARGE, but hopefully in the future they

will figure out this gene.

I am wondering if their is anyone on here with a child, or

themselves has the same birth defects or genetic results? I know that

every child is different, but maybe someone close to the same.

, Mother to 10 months