Tay Sachs Disease Essay

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Tay Sachs is an incurable genetic disease that affects the central nervous system. It is a rare disorder that occurs chiefly in infants and children, especially those of the Jewish heritage. It is characterized by a red spot in the retina, paralysis, gradual blindness, and loss of muscle movement. Tay Sachs can only be inherited, which means it is passed from parents to child only. The process begins in the fetus, very early in pregnancy. However, the disease does not become physically apparent until the child is several months old. Tay Sachs is caused by the absence of a vital enzyme, called the Hex A gene, which is in chromosome 15. This gene plays an important role in the nervous system. It breaks down the fatty substance called…show more content…
Parents who suspect they might be at risk are strongly encouraged to be tested before pregnancy. Pregnant mothers can have their unborn babies tested for Hex A deficit that causes Tay Sachs. If these tests do not detect the Hex A gene, the baby has the Tay Sachs mutation. If the tests do detect the Hex A gene, then the baby is perfectly healthy. Between the 10th and 12th weeks of pregnancy, an expectant mother can get a chorionic villus sampling or CVS. In this procedure, a small sample of the placenta is drawn into a needle or small tube for analysis. Between 15-18 weeks of a pregnancy, an expecting mother could have an amniocentesis to test for the Hex A mutation. This test involves a needle that is inserted into the mother’s belly to draw a sample of amniotic fluid that surrounds the fetus. Children are usually tested for Tay Sachs after having hearing, sight, and movement problems. The disease can be identified by a doctor through blood tests and screening. Children affected by Tay Sachs disease are born seemingly normal and develop like any other child in the first three to six months of life. Throughout the next month, and sometimes even years, the baby will progressively lose the ability to see, hear, and move. The child will develop a cherry-colored red spot in the back of the eye and they lose or never even gain important motor and mental skills. The child will stop smiling, crawling, sitting, turning over, and reaching for things. By

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