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The Cure - Essay Example

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John Crowley has an MBA degree from Harvard University and has landed a luxurious job. They live in a prestigious house with their three children. Despite their…
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The Cure
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Download file to see previous pages The two parents, Aileen, and John requested for an appointment with a doctor to examine the state of their two affected children. The diagnosis given to the children included Pompe for Megan while Patrick’s diagnosis was to come later in a few months.
Pompe is a disease that is genetic in nature. It is due to unbroken glycogen that results from a deficiency in enzymes that breaks glycogen down. Sugar in the body builds up and is stored as glycogen. Glycogen is then deposited in the muscles of the body. The resultant effect is cells lacking energy and other necessities for them to function optimally. Consequently, the muscles will go through a lot of malnourishment. The effects of Pompe will cover the respiratory system and the muscles. A common phenomenon is children dying from a failure in the respiratory. The latter is also called cardiac arrest and occurs as the heart enlarges slowly. The lifespan of children diagnosed with Pompe is significantly reduced and only have a few years.
The cause of Pompe is the mutations that the GAA gene undergoes. The task of GAA is the production of alpha Maltese. Alpha Maltese is an enzyme that handles the breakdown of glycogen into glucose that is usable by the body. The enzyme’s production will fail if GAA undergoes mutation. Glycogen, as a result, is not decomposed to form pure sugar. However, the cells in the body make use of glucose and cannot do so with glycogen. Too much glycogen in the cells will become toxic to the body. The more the build of glycogen, the weaker the muscles get and the levels of damage get worse.
Pompe is fair when traced in an adult as compared to a child. Although it is rare, it is considerably fatal in children. There are three varied types of Pompe disease that doctors and scientist have established. Their differences come how severe they are and age of appearance. They include non-classic ...Download file to see next pagesRead More
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