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TAY-SACHS DISEASE | ||||||||||||||||
What is Tay-Sachs Disease? A baby with Tay-Sachs disease appears healthy at birth, and seems to be developing normally for a few months. Symptoms generally appear by six months of age. While symptoms vary from child to child, there is always a slowing down of development. Gradually, Tay-Sachs children lose motor skills and mental functions. Over time, the child becomes blind, deaf, mentally retarded, paralyzed and nonresponsive to the environment. Tay-Sachs children usually die by age five. Children with Tay-Sachs disease lack a vital enzyme, hexosaminidase A (Hex A). Hex A is needed for the body to break down a fatty waste substance found in brain cells. Without Hex A, this substance accumulates abnormally and causes progressive damage until the nervous system can no longer sustain life. Why is a baby born with Tay-Sachs disease? Tay-Sachs is an inherited disease that only occurs when both parents carry a Tay-Sachs gene and each parent transmits the defective gene to their child. A child who inherits two Tay-Sachs genes (one from each parent) produces no functional Hex A enzyme and develops the Tay-Sachs disease. A person with only one Tay-Sachs gene is perfectly healthy, but is a Tay-Sachs carrier. When both parents are carriers, there is a one in four (25%) chance, with every pregnancy, of having a child with Tay-Sachs disease. When both parents are carriers, there is a two in four (50%) chance, with every pregnancy, of having a child who is a carrier. When only one parent is a carrier, there is no chance the child will have Tay-Sachs disease. There is a two in four (50%) chance, with every pregnancy, of having a child who is a Tay-Sachs carrier. How do you know if you are a Tay-Sachs carrier? The answer is a simple blood test. The Tay-Sachs blood test, referred to as a carrier screening, identifies Tay-Sachs carriers and non-carriers. It is urgent to understand that the Tay-Sachs gene gets passed from one generation to the next. Without carrier screening, it can remain hidden in a family for decades, surfacing unexpectedly and tragically with the birth of an affected child. The fact that there is no family history of Tay-Sachs disease does not lower an individual's risk of being a carrier. It may simply be a lucky accident that, thus far, no child inherited a pair of Tay-Sachs genes. Very often, Tay-Sachs testing is not included in routine health care. To be safe, remember to discuss testing with your health care provider. |
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Colton's Cloud Home Page Colton's Story Pictures of Tay-Sachs Angel Page 1 Pictures of Tay-Sachs Angel Page 2 Kyle's Memorial Page National Tay-Sachs & Allied Disease Association's site |
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