Is There a Cure for Tay-Sachs Disease?
Although researchers are actively looking for a way to prevent or treat Tay-Sachs disease, currently no treatment or cure exists. However, tests have been developed that allow people to find out if they carry the defective gene. Blood tests can determine the level of Hex-A in people’s blood (carriers have about half as much as noncarriers) and DNA tests may find evidence of mutations in the Hex-A gene. Testing is particularly useful for people who have had relatives with Tay-Sachs disease and for people in high-risk populations. Finding out about risk before having a baby can prevent the anguish of watching a child develop and then die from Tay-Sachs disease. Prenatal tests also exist for women who already are pregnant. The amni-otic fluid (the fluid in which the fetus develops) or the chorionic villus (structures inside the mother’s uterus) both contain fluid from the developing baby that can be sampled and tested for the presence of Hex-A. If Hex-A is present, that means that the fet
