Tay-Sachs disease is a childhood illness that has a genetic foundation. It occurs when the body is lacking a vital enzyme that is called hexosaminidase [Hex-A] that can break down the fatty waste substances that are produced by brain cells. The end result is an accumulation of the fatty wastes and this eventually causes progressive damage to the neurological system in the body. When enough waste accumulates, the mind can no longer sustain itself.
Tay-Sachs Disease Statistics
1. In the United States today, approximately 1 in every 27 Jews is a Tay-Sachs carrier.
2. Tay-Sachs carriers are found most frequently among families of eastern European Jewish descent.
3. Among Jews of Sephardic origin and in the general, non-Jewish population, the carrier rate is about one in 250.
4. The Cajun community of Louisiana has the same carrier rate as the eastern European Jews, as does the general French-Canadian population demographic.
5. Current research indicates that among Irish Americans, the carrier rate is about 1 in 50.
6. A confirmed diagnosis of Tay-Sachs disease can occur for a fetus in embryo as early as the 10th week.
7. Since the Hex-A gene was isolated in 1985 it is believed there are between 75 and 100 different mutations that can cause Tay-Sachs disease.
8. In the US alone, there are estimated to be over 1.2 million Tay-Sachs carriers.
9. Death typically occurs from Tay-Sachs disease by the age of 6.
10. There is a very rare form of Tay-Sachs disease that has a late onset where symptoms can begin later on in life, including adulthood.
11. There is a 1 in 360,000 chance that a baby will be born in the general population with Tay-Sachs disease.
12. Symptoms in the juvenile form of Tay-Sachs typically appear between the ages of 2 and 5.
13. There is no effective treatment or cure for Tay-Sachs disease at this time.
14. Genetic testing can reveal approximately 98% of relevant mutations in theHex-A gene in the Ashkenazi Jewish population.
15. Tay-Sachs disease is caused by a defective gene on chromosome15.
16. Carriers have a 50% chance of passing on the defective gene to their children.
17. The current testing that is available can detect about 60% of the carriers of Tay-Sachs in the general population.
Symptoms and Treatment
The symptoms of Tay-Sachs disease will vary from child to child, but there are some areas of common ground. Most children will appear to be normal and hit their growth and developmental milestones over the first 6 months of life. After this time, however, there will always be a slowing down in their development. Mental functions become reduced and the motor skills begin to fade. Children will eventually become blind and finally enter a vegetative state just before the disease claims their life.
Children develop Tay-Sachs disease when both of their parents are carriers for it. Even so, there is just a 1 in 4 chance that the child will actually have the disease. There is actually a greater chance that a child with both parents being Tay-Sachs carriers will become a carrier themselves instead of actually developing the disease. If just one parent is a carrier, then the chances of a child having Tay-Sachs disease is 0%. There is, however, a 50% chance that the child will become a carrier. This is because the gene modification that causes the disease is recessive in nature.
You can know if you are a carrier of Tay-Sachs if you have a blood test. Some population groups are more at risk than others and this disease may just pass from carrier to carrier for generations before it becomes prevalent. Testing for this disease is not considered part of routine care during a pregnancy, so if you suspect that it might be an issue, be sure to speak with your doctor about being tested. Not every hospital has the capabilities of testing for this disease, so you may need to allow for some time to get tested before proceeding with a reproductive decision.
Children Suffering from Tay-Sachs
Children born with Tay-Sachs disease have a 100% fatality rate. There is no treatment beyond trying to make a child comfortable. For this reason, one of the recommended options for parents who are confirmed to have a fetus with this disease is a therapeutic abortion.
Testing if being a Tay-Sachs carrier is a possibility is important because it allows for other pregnancy options. People who are carriers can always adopt children, but modern fertility can also help technicians create embryos and then implant one that is confirmed to not have the disease. This can help couples who are both carriers to have a child that is their own in a natural way without the threat of this terrible disease hanging over their heads.
Some ethical concerns do come about for couples who have a Tay-Sachs baby. Is an abortion the moral thing to do? Is it better to eliminate the possibility of suffering before that suffering ever begins? Some may have religious or moral objections to the practice, which means these couples who choose to proceed with a birth will need access to extensive care options. The fact still remains, however, that the child will face a short life that will slowly degrade until they have no control over what their body wants to do.
Extensive genetic testing in the eastern European Jewish population has helped to remove many of the pregnancies that involve Tay-Sachs disease. Most of the children born with this disease are now outside of the high risk demographics. If you have any Jewish ancestry in your family, even if Tay-Sachs has never occurred within your family tree, it may still be lurking around. Get tested to see if you are a carrier and that way you’ll have the information you need to know if it is safe for you to conceive a child.