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Re: [Families of Angelman Syndrome] New member

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  • Kathy Leonard
    Hi Wanda, I don t post much to this list,, if ever,, it s not very active. If you suspect your son has AS, i would ask for the FISH test, this will pick up a
    Message 1 of 34 , Sep 11, 2003
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      Hi Wanda,
      I don't post much to this list,, if ever,, it's not very active. If you suspect your son has AS, i would ask for the FISH test, this will pick up a deletion in chromosome 15. Depending on the results of that test your Dr. may suggest a methylation test to detect what type of AS it is,, like UPD. If both of those come back negative, then you can go for the ube3a sequence analysis. This may not be covered by insurance and some Dr's. are reluctant to do it. Start with the FISH test and see what that shows. Below is a link on testing from the Angelman Syndrome Foundation's web page.

      http://www.angelman.org/diagnostic_testing.htm

      Some of it might be to technical, so if you have any questions just ask. I'm not a genetic guru, but i'll do the best i can!

      And yes, i was blessed with 3 angels.



      Kathy
      Mandy 11yrs. ube3a, Angie 6yrs. ube3a, and rocky 2yrs ube3a

      Warren, MI

      Http://www.geocities.com/candlecrazy_1999/girlswebpage.html






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    • Laurie
      Hi Susan! My little one Josh just turned 18 months on the 1st! Wow, such close birthdays! Josh is also deletion +. We are just starting to get hooked in to
      Message 34 of 34 , Jun 2, 2006
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        Hi Susan!
        My little one Josh just turned 18 months on the 1st! Wow, such
        close birthdays! Josh is also deletion +. We are just starting to
        get hooked in to therapies, we have our intake appointment coming up
        in a couple of weeks. He is crawling, sitting sturdy, feeding
        himself dry foods, drinking from sippy cup, a whole plethora of
        things. So, he is doing well, for not having any intervention yet.
        Can't wait to get working on the walking! Oh please let this kid
        walk soon! Moms of non-AS kids keep telling me, that mobility isn't
        all it's cracked up to be, but I keep telling them, neither is
        carrying them everywhere! :) We were just diagnosed on May 1st, so
        this is all still very new to us, and sometimes overwhelming, and
        sometimes very heartwrenching. We are in the San Francisco Bay Area.
        Tell me more about Ian! When was he diagnosed?
        Take Care,
        Laurie

        --- In familiesofangelmansyndrome@yahoogroups.com, SUSAN WINFREY
        <okswinfrey@...> wrote:
        >
        > Sonya and Laurie,
        > Girls please feel free to personally drop me
        a few lines or either way is o.k. my son will be 18 months on 6-6,
        tell me where you two live, I'm from Grove, Oklahoma, Grand Lake. I
        would love to compare notes and therapys. Are your angels
        deletions?, Ian is.
        >
        Write back,
        >
        Susan
        >
        > Laurie <greg.and.laurie@...> wrote:
        > Welcome Sonya!
        > I just recently found this little home as well. Our sweet little
        > boy was just diagnosed at 17 months which was only 3 weeks ago.
        > Can't wait to get to know you and your little one better!
        > Take Care,
        > Laurie
        >
        > -- In familiesofangelmansyndrome@yahoogroups.com, "sonyahedge"
        > <sonyahedge@> wrote:
        > >
        > > So glad I found you guys! My sweet boy was diagnosed at 1 year
        of
        > age
        > > and now is 17 months. I have quickly discovered my best
        resource
        > will
        > > be through other parents. I have spent too much time on the net
        > today
        > > while at work and will be back on Monday. Can not WAIT to make
        a
        > > connection in this world... that until now my son was the only
        one
        > it
        > > seemed. All of the photos of the children are so beautiful and
        > all
        > > resemble my son in many ways. I cannot wait to tell my husband
        > that I
        > > have found a wonderful resource for info and advice!!!!!!!! So
        > excited.
        > >
        >
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