Genetic Testing For Tay Sachs Disease

Tay Sachs Disease is a condition in which a baby's neurological system begins to deteriorate about three to six months after birth. It is a genetic condition, and there is no known cure for the disease. It is not detectable before or at birth except with genetic testing. Unfortunately, children are often not diagnosed until the deterioration has begun. It is fatal, so all too often, parents watch their children die from an untreatable condition. Most children who die of this condition will do so at age four or five. Very rarely, people have developed this condition after becoming adults.

Genetic testing is available for Tay Sachs Disease. Although this disease is inherited, doctors call it a recessively inherited disease. This means that both parents must carry the gene for the disorder for the child to inherit it. If both parents do carry the gene, each child has a 25 percent chance of developing the disease. Although these aren't great odds, this does mean that parents who have had a child with the disorder have a three in four chance of conceiving a child who does not have the disease. This can give hope to some parents who are desperate to conceive their own child despite the potential genetic risks.

Testing can be performed before the mother gives birth, or after the child is born. Some parents choose to undergo the testing before birth so they can be prepared for this condition. Other parents may choose to terminate the pregnancy based on the results of the testing. If the testing is performed after birth, it is generally done as a confirmation, to verify what the doctors have already suspected.

Some parents, though, would rather not know, and choose to have the child even after they know their children are at risk for inheriting the condition. There is no wrong answer. Each parent has to choose for himself or herself whether the pain of giving birth to a child who will certainly die from an untreatable condition is greater or less than the pain of never having a child at all.

Children with Tay Sachs Disease often develop blindness, have seizures, lose muscle control, and become less alert. No medications are available to prevent the problem from occurring. All doctors can do is to help to decrease the frequency of seizures, and offer other medications to lessen the severity of symptoms. In some cases, though, experimental therapies like stem-cell transplants and cord blood transfusions have greatly reduced or eliminated the symptoms of this condition. This has been only partially successful, though, and only if the child is diagnosed and treated immediately or shortly after birth.

Two groups of people are at very high risk for the disease in comparison with the rest of the world's population. The Ashkenazi Jewish population has one chance in 27 of developing the disorder. In comparison, French Canadians have about one chance in 73 of inheriting this condition. The rest of the people born throughout the world have, on average, a one in three hundred chance of inheriting this disorder.

If you are looking for more innovative information, you should visit the following website:

By Robert Fogarty