Tay-Sachs disease is a fatal autosomal recessive genetic disorder that causes progressive destruction of the CNS. Tay-Sachs affects chromosome 15. At one time Tay-Sachs was known mostly to babies of eastern European Jewish origin. Currently, Tay-Sachs affects mainly the non-Jewish population. To date there are between 75-95 known mutations that are responsible for Tay-Sachs. There are known French Canadian, Cajun, and Irish mutations, among others. These days most Tay-Sachs babies are born to couples not thought to be at risk.

Infants with Tay-Sachs lack hexosaminidase A (Hex-A). This is an enzyme that breaks down lipids in brain cells. Without this enzyme, the cells of the brain cannot function normally. Waste products begin to overload the cells and destruction becomes evident. Initially these babies appear to develop normally, although the destruction process actually begins in early pregnancy. Children will reach milestones and then regress. Some signs of the disease can be found on physical exam sometimes as early as 6 months of age. Many babies are not diagnosed until much later between the ages of 9-18 months. Although physical findings may be evident within the first 6 months of life, an enzyme essay blood test and or DNA sequencing are the tools used to verify the lack of Hex A and confirm the diagnosis of Tay-Sachs disease.

Tay-Sachs affected babies exhibit an abnormal startle response and have cherry red spots on their retina's. These "cherry red spots" are seen on eye exams when the eyes are dilated. These are a classic sign of Tay-Sachs.

There is no cure or effective treatment for Tay-Sachs. There are some slow strides being made in regards to research and potential treatments for this disease. However, at this time there are no viable options. Eventually these children become blind, deaf, paralyzed, unresponsive, and die in early childhood from pneumonias and breathing difficulties.

Safe and reliable carrier testing is available to determine Tay-Sachs carriers. Women should be tested BEFORE pregnancy occurs. CVS and amniocentesis are also able to determine fetuses affected by Tay-Sachs. Newer technology known as pre-genetic diagnosis via in-vitro fertilization is available for carrier couples whom pregnancy termination is not an option.

How do I know if I am a Tay-Sachs Carrier?  It is a simple blood test to indicate if you are a carrier of Tay-Sachs Disease.  Most doctors assume that unless you have a Jewish background there is no need to be tested.  These statistics speak for themselves:

1 in every 50 IRISH AMERICANS IS A CARRIER OF TAY-SACHS

1 in every 27 FRENCH-CANADIANS IS A CARRIER OF TAY-SACHS

1 in every 27 CAJUNS IS A CARRIER OF TAY-SACHS

1 in 250 OF THE GENERAL POPULATION IS A CARRIER!