Not Medical Advice: Tay-Sachs, as explained by the National Tay-Sachs & Allied Diseases Association of Delaware Valley, 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. 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.
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 one child to the next, 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, developmentally delayed, paralyzed and non responsive to the environment. Tay-Sachs children usually die by age five.
Tay-Sachs carriers are found most frequently among families of eastern European Jewish descent (Ashkenazi Jews). In the United States today, approximately one in every 27 Jews is a Tay-Sachs carrier.
The Tay-Sachs blood test, referred to as carrier screening, identifies Tay-Sachs carriers and non-carriers.
To learn more, visit the National Tay-Sachs & Allied Diseases Association of Delaware Valley.
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