Tay Sachs Disease

Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of the enzyme hexosaminidase A (Hex-A). Without Hex-A fatty proteins build up in the brain which cause damage to the brain cells. This damage causes children to loss motor skills and mental functions which overtime can cause the children to become blind, deaf, mentally retarded and nonresponsive to the environment.
Tay-Sachs is an inherited disease that only occurs when both the parents carry a tay-sachs gene and each parent transmits the defective gene to their child. When both parents are carriers there is a 25% chance with every pregnancy of having a child with Tay-Sachs disease.
Tay Sachs carriers are found most frequently in families of eastern European Jewish decent (Ashkenazi Jews). In the United States 1 in 27 Jews is a Tay-Sachs carrier. In the non-Jewish population the carrier rate is 1 in 250.
Couples who are considering having children can get screened for the Tay-Sach gene by having a blood test.
Prenatal diagnosis can include chorionic villus sampling (10-12wk) and amniocentesis (15-18wk)
The baby develops normal for the first 3 to 6 months but then during the next months the baby will progressively lose the ability to see, hear and move. Also a red spot will develop in the back of the child’s eyes. Eventually the child will stop smiling, crawling, turning over, and reaching out for things. There is no cure for Tay-Sachs Disease; Children usually only reach the age of 5.
If the fetus is affected with Tay-Sachs disease couples may elect to have a therapeutic abortion or other options such as adoption.