What is Tay-sachs Disease?
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Tay-Sachs disease is a rare genetic disorder in which an enzyme called hexosaminidase-A is missing. This enzyme is vital in breaking down harmful substances known as lypids. When these lypids build up in the brain they cause brain dammage, and cause death usually by the age of 3 to 5 years of age. Its autozomal recessive so both the wife, and the husband have to be carriers of the Tay-Sachs ghene to have a possibility of having a child affected with Tay-Sachs disease. If both partners are carriers they have a 1-4% chance of having a child affected with Tay-Sachs disease. Tay-Sachs disease is ALWAYS fatal.
When Fred was born genetic tests showed that he had Tay-Sachs disease disease. He died at the age of 3 years.
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