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Have a child with SM/Chiari? Share issues unique to children and their caregivers.

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You might be interested................

Postby hayla2 » Fri Aug 24, 2007 9:01 pm

I took the whole family to the geneticist today. Looks like we are getting somewhere. Close to finding the gene that is the culprit. Thought you all might want to know because it could affect some of you.

A family with 4 having CM, cafe-au-let spots, hypotonia, loose joints, seizures, autism, carnitine deficiency, Vit D and B2 deficiency, narcolepsy, mushy muscles, halos around the pupil, hypoglycemic episodes, drop attacks, and more (just can't remember).

The interesting thing is: not everyone has all these symptoms. Some of us have a few and others a few. We share some symptoms too.

Doc said there is a new gene study going on. They think they found the gene that is affecting families with CM. The genetic testing hasn't been aproved yet but when it is we will be tested. They started some testing on me today. This genetic disorder hasn't been named yet.

We wouldn't have known about the carnitine deficiency if it weren't stumbled upon. But it is a major symptom to whatever ths disorder is.

The geneticist is going to write up an article on our family and will give it to his colleagues. They will follow our family and our progress. I wonder if they will name it after us. Just kidding!

I am saying this to get the word out. I know there are many here with CM and other issues. Maybe this will lead some in the right direction of finding this out and giving a name to it. And who knows where it will lead after that. Melissa
hayla2
 
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