Tay-Sachs Disease

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Tay-Sachs disease is an inherited metabolic disorder of the central nervous system. Babies born with Tay-Sachs disease lack the enzyme hexosaminidase A (hex A) which is necessary for breaking down certain fatty substances in the brain and nervous system. Symptoms generally begin to appear when the child is three to six months old. At this time, there is no cure for this fatal disease. Children born with Tay-Sachs often die by the age of five.

Before 1970, the only way to determine if you were a carrier was to be the parent of a child born with Tay-Sachs. Today a simple blood test can determine if either parent is a carrier. The level of hexosaminidase A in your blood can be analyzed through either DNA or enzyme assay testing. Carriers have less hexosaminidase A in their blood. Babies born with Tay-Sachs have none.

Tay-Sachs disease is predominately found in families of Eastern European (Ashkenazi) descent. Approximately one in every thirty Jews is a carrier. You could be a carrier even if you do not have a family history of Tay-Sachs. A carrier has a fifty percent chance of passing the inactive gene onto his or her children. If a child inherits this gene it becomes a carrier, like its parent, but does not get the disease.

Both parents must be carriers to produce a child with Tay-Sachs disease.

If you are planning on having children, and are of Eastern European descent, it is recommended that you meet with a genetics counselor to discuss genetic testing.

Contact your local physician or hospital to arrange genetic testing. It is important that couples undergo genetic testing before having children.

Jewish Wedding Planner, 2007