New to group- my son is being tested for CHARGE

May 8, 2006

Hello everyone-

My 23 month old son Jake is having his blood drawn Wednesday, to

be tested for the genetic defect (I think discovered recently) which

is found in some CHARGErs. It is going to be shipped internationally,

(we live in the USA). I was interested in learning if very many of

you have done this test, and any information you may have about it.

My son was born with bilateral micropthalmia (which is a severe form

of colombola), micro penis and micro testes, microcephaly and growth

retardation. He is blind with a small amount of sight that helps him

navigate. Just recently he did not pass the hearing test on his left

side, but did fine on the right. His left eye is also his sightless

eye. I do believe he has the characteristic ears as well. He has

surpised and amazed everyone by hitting his milestones on time, but

is now starting to show a 3-4 month delay in fine motor skills. I

would love to chat with anyone with a similar child. I was also

wondering about Growth Hormone. Are many of you/your children taking

it? I have pushed and pushed for it, and I'm scheduling our 3rd

opinion pedi endocrinologist appt. So far because we do not have a

name for what Jake has, and he seems to be so unique, everyone wants

to " wait and see. " Jake does not have any heart defects, or choanal

atresia that we know of. He does have some mild reflux issues and a

big problem gaining weight. Is that common amongst CHARGE kids? He

is technically failure to thrive. Thanks for listening. Any

information would be greatly appreciated. Also, I tried to view

photo's but couldn't see any. Is there a trick to this?

Nona Mom to Jake 23 mos. and Nick 7

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