reply to donna's questions
- 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."