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Heredity and Environment

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While I was working at an adult daycare center in Cary, I had a personal patient with Rett Syndrome. Rett Syndrome usually affects girls and if boys inherit the illness, they usually die after birth. It comes from mutations in a gene called MECP2 located on the X chromosome and can arise sporadically. The reason males don’t usually live is because they only have one X chromosome and if there is a mutation on that chromosome, they can’t live because they have no normal gene. Some symptoms of Rett Syndrome are losing all motor skills between the ages of 6 to 18 months, breathing problems, excessive drooling, and intellectual disabilities and learning difficulties. My patient was a 20 year old girl who was small in frame. Although she was an adult with age, she looked like a 5 or 6 year old child. We had to maneuver her like you would do a baby. We fed her, changed her, and pushed in her in a stroller chair.

She couldn’t walk or talk. She would drool so she had to wear bibs. She would also breath abnormally like she she couldn’t catch her breath when she was upset. Her mother had told us that when she was a baby, she developed normally like any other child would until she was around one year old. She had said that she no longer crawled and that she never really walked. She no longer said “ma-ma” or “da-da” and that she no longer held her bottle. Her mother was up in age when she had her and although her age had possibly nothing to do with her illness, she had felt as though it did. It was a struggle to deal with the fact that her daughter was losing her physical and cognitive skills. Although many girls can live past the age of 40 with Rett Syndrome, my patient ended up passing away due to a perforated ulcer, which is a hole in stomach.

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