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  • Donna
    Hi, my name is Donna and I live in Northern Virginia with my husband and 4 children. My youngest daughter is 3 yrs 3 months with special needs and I am
    Message 1 of 34 , Feb 17, 2005
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      Hi, my name is Donna and I live in Northern Virginia with my husband
      and 4 children. My youngest daughter is 3 yrs 3 months with special
      needs and I am suspecting has AS. Pregnancy and delivery were
      normal, no birth defects or complications. Would not nurse, so we
      went with a bottle but still had difficulty with
      suck/swallow/breath. Seizure onset at 8 months, with multiple,
      difficult to control seizure types; at that time she started showing
      developmental delays, including gross motor delays and no babbling
      or cooing. Normal MRI, metabolic and other tests. At this point she
      is walking and running, but does a lot of toe walking and lurches
      forward when she runs, with bent arms. No verbal language, some but
      severely delayed receptive language. Irregular sleep patterns (read
      gets up in the middle of the night to play), very hypermotoric with
      very short attention span. Happy disposition, smiles a lot and often
      laughs and giggles to herself as she plays. She loves water and
      playing with dad and mom, but does not stop moving long enough to
      develop friendships or relationships with many other people.

      To those of you who have received the dx of AS: who gave the
      diagnosis - a neuro, or developmental ped.? Do theses behaviors fit
      your personal clinical experience with AS? What was the testing
      (genetic) like - and did you have to push for it? I'm concerned that
      her neuro is going to brush off my concerns - she had an abnormal
      PETscan, so he's fixated on the "cortical dysplasia" theory and
      attributes everything to that, even though her MRI's are normal, and
      I'm afraid he won't even want to order genetic tests.

      I'm really looking forward to learning from you.

      Donna Becca's mom
    • 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 9:22 PM
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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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