About a week ago, a mother contacted me on YouTube to comment on how similar our children looked, in the way they move, their mannerisms, and in their general appearance. This woman's child has Angelman Syndrome.
Angelman Syndrome is caused by a non-working gene on the maternally inherited 15th chromosome. Many times the gene has a deletion or incorrect code, which causes the protein the gene codes for to not be made properly. You can read more about Angelman Syndrome at http://www.angelman.org.
I've been researching this syndrome since the mother contacted me, and Jack's symptoms fit the Angelman Syndrome symptoms perfectly. Jack's doctors all assumed his symptoms followed from his brain injury, but there are a few discrepancies I think they may be overlooking:
Jack's brain injury was a PVL and because of the low severity of it, it was predicted that it would only cause him gross motor delay. However, Jack is globally delayed.
Jack has very very fair skin, hair, and eyes. Shippee and I are rather fair, but neither of us have light blonde hair. Lack of pigment is also characteristic of AS.
Jack has an unusually happy demeanor, he is excitable, and he is hyperactive. These symptoms are not common in CP but are symptoms of AS.
Jack LOOKS like a child with AS. It could be a coincidence, but he has a wide mouth with wide teeth, a wide face, wide nose, inset eyes, and a prominent chin like many kids with AS. See for yourself, check out these videos of AS kids: http://www.youtube.com/watch?v=-bCbZvC6LqI, http://www.youtube.com/watch?v=cFLHjnjwCag, http://www.youtube.com/watch?v=9L224ndGqH0, http://www.youtube.com/watch?v=-smToUcC-pw, http://www.dropshots.com/egosch#date/2008-10-11/00:43:59.
What do you think?
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Sunshine - - Hi this is Elise Gosch. I read your message on my blog. Feel free to contact me at egosch@cox.net. I'd be happy to exchange phone numbers and talk more about Jack and Aubrey. How does Jack do communication wise. One of the major parts of Angelman Syndrome is lack of or minimal speech. In Aubrey's case - she laughs; has this sort of grunt sound if she wants something; and can cry/scream really loud if she's upset or hurt but other than that she does not babble or make much noise. Is this similar with Jack? I think you're on the right path to get the genetic testing. I could go on and on!! Just shoot me a note via email and then we can hook up.
Elise
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