Children's Health

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In late-onset Tay-Sachs (LOTS), early symptoms such as clumsiness or mood changes may be minor or seem "normal" and go unnoticed. Later symptoms may include muscle weakness and twitching, slurred speech, and trouble thinking and reasoning. The symptoms depend on how much hex A the body makes.

How is Tay-Sachs disease diagnosed?

If you or your doctor thinks that your child has Tay-Sachs disease, your doctor will do a physical exam and a blood test to check the level of hex A. A genetic test may be needed to be sure the disease is Tay-Sachs.

How is it treated?

The focus of treatment for Tay-Sachs disease is to control symptoms and make your child as comfortable as possible. There is no cure. It may be helpful to seek counseling or find support from others who are going through the same thing you are.

If you have late-onset Tay-Sachs disease (LOTS), treatment also focuses on controlling symptoms. The treatment you receive, such as medicine for depression, depends on the symptoms you have.

It may be overwhelming to learn that your child has Tay-Sachs. It’s important that you care for yourself as well as your child. Talk to your doctor about:

• Your concerns and the help you'll need for your child.
• A support group in your area.
• Family counseling to help each member cope with the disease.

As the disease gets worse, your child will need more care. Encourage your child to be as active as possible for as long as possible. Give your child your love and affection.

You may not be able to care for your child without help. Talk with your doctor about groups that can help you.

Should you get tested?

If you are thinking about having a child, the American College of Obstetricians and Gynecologists (ACOG) recommends that:²

• Both you and your partner get a screening test if you are both of Ashkenazi Jewish, French-Canadian, or Cajun descent or have a family history of the disease. If both of you test positive as carriers, genetic counseling may help you with making choices.
• You or your partner get a screening test if either of you is of Ashkenazi Jewish, French-Canadian, or Cajun descent or has a family history of the disease. If one of you tests positive for being a carrier, the other partner should be tested.

Carriers of Tay-Sachs disease can pass the gene to their children even if the carriers don't have the disease. If both you and your partner are carriers, there is a 1-in-4 chance (25%) that any child you have will have Tay-Sachs disease.