- Dave, My daughter is Clinically Diagnosed with Angelman Syndrome. For us, that makes not difference in how we work with her. She is high functioning and isMessage 1 of 3 , Nov 5, 2002View SourceDave,
My daughter is Clinically Diagnosed with Angelman Syndrome. For us,
that makes not difference in how we work with her. She is high
functioning and is learning more everyday. I think the Dx gave her a
label and that label gave her a few services that she may not have
From my experience, that clinical dx didn't change Jessie and she
would be the same regardless.
Now if there was gene therapy, that would be a different story.
Isolating the gene would make a difference.
Good Luck in your quest,
- A formal diagnosis has been a blessing for us. It helps us procure services, allows us to get access to specific info and support groups, has gotten usMessage 2 of 3 , Feb 18, 2003View SourceA formal diagnosis has been a blessing for us. It helps us procure
services, allows us to get access to specific info and support
groups, has gotten us publicity that has helped pay for thereapy, and
has given us a mental handhold. I recommend getting as detailed a
genetic dx as possible. You never know: someday specific thereapies
might be available, and I imagine already having the dx could save
--- In email@example.com, "Dave Adams"
> I am a new member with an autistic son. A local geneticist hasbeen
> recommending to parents with autistic kids that they be tested forbeen
> mecp2 (Rett syndrome), 22q11.2, FISH studies of chromosone tips and
> mpcr studies of 15q (Angelman's syndrome). I have heard that he
> recommends these tests because the listed genetics defects have
> found in some autistic kids. We have an appointment soon and I amfrom
> trying to prepare beforehand.
> I have searched the archives of autism lists at yahoogroups and
> what I could find, some of the gene defects listed above are notdirection
> specific to any one disorder. Also, what the genes above are
> responsible for in the body is not known. I was wondering if the
> above testing will provide useful information in our case? Does
> knowing a person has one of the genetic defects above give
> to therapies or anything else useful? Thanks.