Tay-Sachs disease is a rare genetic disorder in which little or no hexosaminidase A (hex A) enzyme is produced by the body. Hex A is necessary to break down normal fatty compounds called gangliosides in the body cells. When these fatty compounds are not broken down, they slowly build up and damage brain and nerve cells, making the cells unable to function properly.
There are two forms of Tay-Sachs disease: the infantile form (most common), which the body produces no hex A. This form of the disease develops during

babyhood. The 2nd form is Late-onset Tay-Sachs (LOTS), which the body produces some hex A, but lower-than-normal amounts. This form of the disease begins between teenage years and the mid-30s.
The chances of having another child with this disease are one out of four or 25%. If it was up to me, I would want to have another one because both, my wife and I, love children. Also, there is still a three out of four or 75% chance of it being normal and healthy. If g-d wants for me to have a normal or disease child, then there must be a reason.
I think that amniocentesis is an outstanding test because it has the ability to prevent a lot of heartache and suffering. If I found out that my next baby would also have Tay-Sachs, then I would probably prefer to have an

abortion. It is a prohibition in the Torah to kill the baby in the womb, but there are a couple of exceptional circumstances that are allowed to have an abortion; so I would end up consulting a big, well-known, rabbi.
American Jews have an occurrence rate of the Tay-Sachs gene about ten times greater than other ethnic groups because American Jews inbreed. For example, Arabs often get kidney diseases because they marry within close relation, which is why these diseases are so frequent for them. The gene is able to stay within the gene pool because it is recessive.
The probability of two carriers having the children that are carriers is 50%, and the probability of one carrier and one normal having children that are carriers is 25%. For this horrific diseases there is no cure only

prevention. The only way to reduce this gene in the population is for both, the bride and groom, to get tested by amniocentesis. If both are carriers, then you should not get married. But if only one or none are, then it is perfectly fine.

Bibliography:

1. Payne, Kattie. "Tay-Sachs Disease." [Online] Available
http://health.yahoo.com/ency/healthwise/hw182975, February 27, 2004

login or register to post comments | email this page