Originally posted by boonon
Thanks,
Any info will help.
The dad deals with it by pretending nothing is wrong, the mom has some of her own personal obstacles so it is hard to get 'medical' info from her.
There is a lot of literature out there on it , but I'll be the first to admit I can only follow the 'medical jargon so far'.
I believe he has 5 deletions on one chromosome (t ...[text shortened]... on another (the 16th).
It may be called something like 'mutation xr'
Thanks again.
One place that you might consider going for information is the SGU ( Skeptics Guide to the Universe)
http://www.theskepticsguide.org/
Where the host is this guy http://www.theskepticsguide.org/bios.aspx?stevennovella
Who is a neurobiologist and might know (or be able to find out) what the current state of knowledge is around
this condition.
I would send a question into the show http://www.theskepticsguide.org/contact.aspx
and ask if they know/can find out about the disease and what treatments (if any) exist or are in the pipeline.
I can't guarantee of course that they will respond to your question (they get lots and only respond to some of them)
but if they do Steve is an expert in this field and has access to and can understand the scientific journals in this area
if he isn't up to speed on this particular disorder already.
The SGU is worthwhile listening to anyway, but they might be able to help you find out more about this condition.