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1428Re: [Families of Angelman Syndrome] New to Group

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  • Robbie Montgomery
    May 7, 2006
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      We thought Sawyer's difficulties were due to a virus called CMV. I had
      accepted that too until she started having "drop seizures" I didn't know
      what they were at the time. I thought she was over tired or it was just
      due to her poor balance.She would be standing up and then eyes shut
      briefly and she would catch herself before falling or just fall. They were
      only once in a while a year ago but then they started happening like 10
      times a day. We went to the neurologist and the first test too came back
      negative but then they did another specific test FISCH test I think and it
      was positive. We met with geneticists a couple of weeks ago and they took
      my husbands blood and mine to see if this was caused between the two of us
      or if it is something in my family genes.

      She has two characteristics which don't totally fit AS. She has retinal
      scarring and she has protowords which start with /b and p/. She has names
      for things and different vocalizations. However, everything else fits AS.
      She is walking and starting to jump and run. I feel she has come so far
      due to therapy which started when she was 3 months old.

      Robbie

      Robbie Montgomery, M.S, SLP-CCC
      Speech-Language Pathologist
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