Tay-Sachs Disease: Still Dangerous

Tay-Sachs disease, also known as GM2 Gangliosidosis, is a disease passed on as a recessive trait. Found dating back to the 15th century, Tay-Sachs has been a deadly disease among a smaller group of people. It is most prevalent among the Ashkenazi Jewish population (mostly Eastern European Jews), but has seen a decline in recent years as a result of extensive testing. However, it is still a very dangerous disease, and needs to be recognized.

It received its name from British ophthalmologist Warren Tay and American Neurologist Bernard Sachs. Tay-Sachs disease is physically the excessive accumulation of fatty acids called gangliosides in the nerve cells in the brain. It is the result of a mutation on the HEXA gene on chromosome 15. Because it is a recessive gene, it requires both parents of a child to be carriers, or infected with the disease so that they may pass the trait on to their child. If both parents are carriers, the child has a 25% chance of receiving the genetic disease.

Tay-Sachs comes in three forms affecting infants, juveniles, and adults. The most fatal, and common, of the three is Infantile TSD. A child infected with the disease will live the first six months of its existence normally, but will then face wave after wave of mental and physical deterioration. The child may become blind, deaf, and unable to swallow until death (usually before the age of three). The other two forms of tay-sachs are both extremely rare, but still possible.
The buildup of fatty acids which results in the disease is a result of a lack of an enzyme called hexosamindase A.

Anybody that takes a simple blood test is able to test for the recessive gene. However, the stopping the spread of the disease is another matter. Screening for Tay-Sachs has been a great success in the emerging field of genetic counseling. Because of its predominance over Jews, Jewish communities have taken strong action to try to stunt the growth of the disease. Israel has in effect become the first country to offer free genetic screening and counseling for all couples. It is also the leading center for research on genetic disease.