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Posted March 21, 2007 · March 21, 2007

,

I am the father of a 9-year-old boy with CHARGE Syndrome. The symptoms you

describe are consistent with CHARGE. Coloboma is found in CHARGE and in only a

few other syndromes. Genital apolasia, growth hormone deficiency and delayed

puberty are common in CHARGE as well. Could the balance problems and ataxia be

caused by inner ear problems (common in CHARGE) and muscle tone issues (which my

son has)?

Do you have other common chacteristics of CHARGE: heart defects, hearing

loss, neurological issues? There is also a common CHARGE face (square face,

arched eyebrows, unusal external ears).

There is a blood test for the CHD-7 gene which accounts for maybe 70% of CHARGE

cases, but it is probably expensive.

CHARGE Syndrome had not yet been identified when you were born, but I am sure

that some people were born with it. If you in fact have CHARGE, I believe that

you will be the oldest known person with it since most other cases before 1978

were never identified!

Good luck in your quest!

-Mike Schwartz in Ventura, California

Posted by: " rgoodlobby@... " rgoodlobby@... Mon Mar 19, 2007 4:54 am

(PST)

Good morning. My name is , I am 54 years old, live in Florida, and I

am new to the group. I have retinal colobomas, Ataxic cerebral palsy which

affects my balance, and genital apoplasia, and growth hormone deficiency. I did

not go through puberty until I was 20 and cannot have children, although I

adopted a daughter. I am a geriatric social worker.

For over 50 years I always wondered if there was a connection between these

problems. After hearing about CHARGE and reading up on it, I feel this may be

the missing link and want to learn more. Is there any male adult in the

group with these medical issues? I look forward to participating in the group. I

am also part of the Coloboma group. G FL

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