1428Re: [Families of Angelman Syndrome] New to Group
- May 7, 2006We 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 Montgomery, M.S, SLP-CCC
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