What is tay-sachs disease?

Tay-Sachs is a rare disease that is passed down through some families. A person with Tay-Sachs has gene changes that prevent the body from making any or enough of an enzyme called hexosaminidase A (Hex A). This enzyme breaks down fatty compounds. Without it, fatty compounds build up in the nerve cells of the brain and cause damage.

There are three forms of Tay-Sachs:

• Infantile Tay-Sachs. This is the most common form. It develops soon after a baby is born and causes death early in childhood.
• Juvenile Tay-Sachs. This affects children ages 2 and older and progresses more slowly than the infantile form. Children don't live beyond their mid-teens.
• Late-onset Tay-Sachs. This is very rare and can start between puberty and the mid-30s. It is a milder form of Tay-Sachs. Some people who have this form may live a normal lifespan.

Each form of Tay-Sachs disease has different symptoms.

Infantile Tay-Sachs

With infantile Tay-Sachs, a baby looks healthy at birth. A doctor may see a red spot on the child's retina. But symptoms increase over time. By 6 months of age, babies start losing the ability to see, hear, and move. By 2 years of age, a child may have seizures and no longer respond to their surroundings.

Juvenile Tay-Sachs

Juvenile Tay-Sachs occurs in children 2 years of age or older. Symptoms progress more slowly than they do in infantile Tay-Sachs. A child may have seizures and may lose the ability to walk and communicate.

Late-onset Tay-Sachs

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 difficulty walking, slurred speech, or mental health problems. The symptoms depend on how much Hex A the body makes.

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 an enzyme called Hex A. A genetic test may be needed to be sure the disease is Tay-Sachs.

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.

Work with your doctor to find ways you can help keep your child comfortable. Give any medicines as instructed. Be sure to care for yourself as well as your child. Consider getting counseling or finding support from others who are going through the same thing you are.