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Re: New member - is genetic testing useful?

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  • angelmum01
    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 is
    Message 1 of 3 , Nov 5, 2002
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      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 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
      gotten otherwise.
      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,

      Winna
    • rocketwatts2003 <rocketwatts2003@yahoo.c
      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 us
      Message 2 of 3 , Feb 18, 2003
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        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 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
        valuable time.

        --- In familiesofangelmansyndrome@yahoogroups.com, "Dave Adams"
        <adamsdp@c...> wrote:
        > I am a new member with an autistic son. A local geneticist has
        been
        > recommending to parents with autistic kids that they be tested for
        > 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
        been
        > found in some autistic kids. We have an appointment soon and I am
        > trying to prepare beforehand.
        >
        > I have searched the archives of autism lists at yahoogroups and
        from
        > what I could find, some of the gene defects listed above are not
        > 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
        direction
        > to therapies or anything else useful? Thanks.
        >
        > Dave
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