Tay Sachs disease is also known as Hexosaminidase A deficiency or GM2 gangliosidosis. Tay Sachs disease is a genetic disorder and causes the deterioration of the mental and physical abilities of the baby when he is about 6 months old. Unfortunately, the Tay Sachs disease leads to death, usually before the child is four years old. The Tay Sachs disease is caused by a defect that the child inherits from its parents. It appears when gangliosides accumulate in the nerve cells of the brain. In present, this disease has no cure. The Tay Sachs disease is a HEXA mutation that is frequently encountered in the Ashkenazi Jewish population, in the French Canadian population of Quebec and in the Cajun population residing in Louisiana.
In order to prevent the Tay Sachs disease there are three important methods used all over the world: prenatal diagnosis, mate selection and preimplantation genetic diagnosis. The prenatal diagnosis of the Tay Sachs disease is the most simple. A test can be done to the pregnant women after the 10th week of pregnancy. Through this, the parents can find out if the baby will suffer of the Tay Sachs disease. They may agree to terminate the pregnancy and in cases like this, the abortion is approved even after the 10 weeks mark. The mate selection is a procedure used in the Orthodox Jewish communities. There is an organization, called Dor Yeshorim that offers couples an anonymous screening program through which the husbands can see if one or another carries a genetic disorder. If the answer is positive, they can avoid pregnancies.
The preimplantation genetic diagnosis is possible if a future mother uses the in vitro fertilization method. Before the IVF procedure, the embryo that is going to be implanted in her womb may be tested. Thanks to this method, only healthy embryos are transferred into a women’s body. The Tay Sachs disease is not the only one avoided through this method, this also prevents cystic fibrosis and sickle cell anemia. Unfortunately, until now, the Tay Sachs disease has no cure, but researchers work in hope to find one.