Nbio140Essay#1

Nbio140Essay#1 - John Domanick 9/20/10 Nbio 140b Writing...

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John Domanick 9/20/10 Nbio 140b Writing Assignment #1 I have grown up living most of my life with a person diagnosed with a serious neurological disorder. My younger brother Kevin has a rare genetic disorder called Angelman Syndrome (AS). AS has caused my brother to be severely mentally retarded, only having developed mentally as far as a 1-2 year old, while being physically 15 years old. Aside from mental retardation Kevin also shows other characteristic symptoms of AS, such as seizures, a fascination with water, flapping of the hands and arms, microcephaly, sleep disturbances, and an unconditionally happy demeanor. Kevin’s expression of these particular symptoms led my mother to believe he had AS, and suggest this possible diagnosis to his neurologist at the time. Doctors had previously diagnosed Kevin with cerebral palsy (CP), which is the most common misdiagnosis for AS. My mother felt that Kevin was different from children with CP and brought him to a geneticist for testing. Kevin was found to have a deletion within his maternal
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Nbio140Essay#1 - John Domanick 9/20/10 Nbio 140b Writing...

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