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reply to donna's questions

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  • leah
    Dear Donna Yes, Olivia s gait was only mildly affected. There was some leaning forward issues and her walk was very stiff. Also, she did not have the facial
    Message 1 of 1 , Mar 2, 2005
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      Dear Donna

      Yes, Olivia's gait was only mildly affected. There was some leaning
      forward issues and her walk was very stiff. Also, she did not have
      the facial features associated with angelman's syndrome, but it seems
      they are "popping up" as she gets older. We are only now, at age 11,
      have some issues with protruding tongue. A prominent jaw is one
      facial characteristic...her geneticists did not note a prominent jaw,
      but did put in his report that she has a "very small chin".

      It is my understanding that with AS, there is either a deletion, a
      mutation, a point mutation, or nothing abnormal shows in the genetic
      testing....and the "severity" of AS depends on which one. Olivia's
      genetic testing was normal...she is one of the estimated 20 percent
      who are diagnosed on clinical findings and observations only. In many
      areas, she is only "mildly affected."

      Leah
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