Tay-Sachs Disease (TSD) is a neurological genetic disorder that is progressive. Tay-Sachs Disease is known as a disease that is common to Ashkenazi Jews (Eastern European Descent), but now is seen in families of varied backgrounds. About 1 in 250 people in the general population is a carrier of Tay-Sachs Disease. There are three forms of Tay-Sachs:
- Classic Infantile
- Juvenile (Also known as late onset)
- Chronic
In Tay-Sachs the person has a lack of, or insufficient levels of, an enzyme, Hex-A (Hexosaminidase A). If a person doesn’t have this enzyme a lipid (GM2 ganglioside) accumulates in the brain. This increase causes damage to the cells in the brain. Which form a person has, depends on when the damage starts. The damage causes harm to the nervous system. Those with Classic Infantile Tay-Sachs will generally die before the age of five.
While there is no cure for Tay-Sachs, there are on going research projects using a variety of different methods, including stem cells, gene therapy, medications, etc. The key is to prevent Tay-Sachs when possible. This is largely done by genetic testing of people who might be carriers. You may want to consider this simple blood test if you fit any of the following criteria:
- Ashkenazi Jews (1 in 27 is a carrier)
- French Canadians (1 in 27 is a carrier)
- Louisiana Cajun (1 in 27 is a carrier)
- Pennsylvania Dutch
- If a family member has had a baby with Tay-Sachs
The National Tay-Sachs and Allied Diseases Association, Inc recommends that you have the blood test done only by a laboratory that uses the International Tay-Sachs Laboratory Quality Control Program that they monitor. They also offer a list of these . If you have any questions you should contact your health care practitioner and talk to them about the possibility of genetic counseling. The key to preventing Tay-Sachs is to have carrier diagnosis prior to conception.
