Once pregnant, women can have the fetus tested for the HEXA gene. If the tests detect HEXA, the child will have Tay-Sachs disease. If they do not detect HEXA, then the child will not have it. The tests can be administered as early as the 10th week of pregnancy, when a small sample of the placenta can be taken via an embryonic needle. This is called a chorionic villus sampling, or CVS.

Between the 15th and 18th week of pregnancy, doctors can administer an amniocentesis test for the Tay-Sachs gene. A sample of amniotic fluid is drawn from the womb and tested for the HEXA gene. At either point, the parents can decide to terminate the pregnancy if the tests show Tay-Sachs disease is likely.  

Tay-Sachs Is Rare

There is no current cure for Tay-Sachs, but fortunately, the odds of acquiring it are extremely rare. Less than 20 cases per year are reported in the United States, Doctors identify patients with Tay-Sachs by a physical examination and blood test.

Although there is no cure, doctors and other medical professionals will work with the family to help alleviate pain, control seizures and help with muscle spasms that may occur. Family support is available from a number of charities, including the National Tay-Sachs and Allied Diseases Foundation and the March of Dimes Foundation.

While there is no cure for Tay-Sachs disease, research is ongoing, and with new breakthroughs in gene therapy or enzyme replacement, it is hoped that a way to arrest or eliminate the disease will arrive.