(GS102)Week3 Genetic Counseling Tay Sachs Disease

(GS102)Week3 Genetic Counseling Tay Sachs Disease - With So...

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With So many diseases discovered over the past few centuries, finding a cure or even just a treatment for all of them is virtually impossible. Among the diseases that scientists and doctors’ have been unable to find a cure for is Tay-Sachs disease. Tay- Sachs disease is more times than not a deadly disease as it is most commonly found in infants. Tay-Sachs disease in infants generally begins inside the womb ultimately resulting in extensive nerve damage inside the brain. This disease occurs when “the body lacks Hexasaminidase A (HEXA), a protein that helps break down a chemical found in nerve tissues called gangliosides”. (Johnston, 2012) When the body lacks HEXA, gangliosides will almost always build up within the cells, more commonly within the nerve cells in the brain. Gangliosides that are not broken down within the cells cause “progressive deterioration of mental and physical abilities”. (National Institute of Neurological Disorders and Stroke) This deterioration occurs because the cell is essentially being overrun by gangliosides, causing the cell to inevitably die prematurely. The cell is unable to undergo its cycle which means that it cannot gain nutrients, grow and later divide as a healthy cell cycle would be able to. When a cell reaches the point of division it can generally create what are called two “daughter cells” that are healthy and begin their own cycle. Being overrun by gangliosides prevents this process from occurring. As a genetic counselor, if I were to sit down with a couple that has a child suffering from Tay-Sachs disease the discussion would be lengthy and undoubtedly emotional. The discussion would go as follows: Mr. and Mrs. Smith,
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Your daughter is suffering from a disease called Tay-Sachs disease. Tay- Sachs disease
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