What Is Rett Syndrome? Essay

What Is Rett Syndrome? Essay

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Imagine sitting in a soundproof, glass box in the middle of a room full of people. You are uncomfortable, thirsty or hungry and lonely. Think about how frustrated you are when nobody hears, or acknowledges. You scream your requests louder, but no one in the room hears you. Now imagine that instead of a glass box, it is your own body that you are trapped in. Imagine waking up everyday to find that you cannot get out of bed or brush your teeth without assistance, and dressing yourself every morning is a daily challenge. Imagine never being able to live independently and having to rely on someone to help you every day. This scarcely brushes the surface of how to describe the disorder that is Rett Syndrome.
Rett Syndrome is considered to be a developmental disease, as it does not cause the brain to degenerate, but interferes with the maturation of certain areas, including the frontal, motor, and temporal cortex, which contains the brain stem, basal forebrain, and basal ganglia. (Turkington, Anan 2006). Because of this, people with Rett Syndrome have a loss of purposeful hand skills and mobility. People with Rett Syndrome experience permanent impairment and cognitive disabilities. They also experience breathing difficulties such as hyperventilation, breath holding and air swallowing. People with Rett Syndrome often show autistic-like behaviors at a young age, but enjoy affection and prefer people to objects, whereas people with autism prefer objects to humans. Children with Rett Syndrome often walk on their toes, have sleep problems, grind their teeth and often have troubles chewing.
Those with Rett Syndrome often show symptoms of apraxia, a fundamental and severely handicapping feature that interferes with all types of mo...

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...one is active in any given cell. This means that only a portion of the cells in a girl’s nervous system will actually have the defective Rett gene. The severity of a case is based on the percentage of their cells that express a normal copy of the MECP2 gene.
Subsequently, boys have only one X chromosome; therefore lack a substitute copy that could compensate for the defective one. Ultimately, they have no defense against the effects of the disorder, making it much more deathly than it is for girls (NINDS 2009). Boys with this defect normally do not show the common symptoms of the disorder, but will experience sever problems when they are first born. The condition becomes much more fatal in boys and they typically do not survive past birth.
Almost sixty years later, scientists are still doing research to find a cure for the female oriented disorder, Rett Syndrome.

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