What is Tay-Sachs disease?
Tay-Sachs is a very rare disease that is passed down through some families. A person suffering with Tay-Sachs has changed (mutated) genes that don't make any or enough of an enzyme called hexosaminidase A (hex A). Fatty compounds are broke down by Hex A. Without it, fatty compounds grow up in the nerve cells of the brain and cause further damage.
There are two forms of Tay-Sachs:
- The most common form develops soon after a baby is born. It causes death early in childhood.
- Late-onset Tay-Sachs can start between puberty and the mid-30s. The life of a person depends on the severity of the symptoms. People may live as long as someone who doesn't have Tay-Sachs disease. Late-onset Tay-Sachs is very rare.
What causes Tay-Sachs disease?
Tay-Sachs can occur when parents pass on a changed gene to their child.
- If a baby gets the changed gene from both parents, the disease will be suspected.
- If the baby gets the changed gene from one of the parents, he or she will be a carrier. This further means that the child will have one gene which produces hex A and one which doesn't. The child's body produces enough hex A so that he or she doesn't get the disease. But the child can pass the changed gene on to his or her children.
In late-onset Tay-Sachs (LOTS), the body generates a small amount of hex A. People with late-onset Tay-Sachs (LOTS) inherit the late-onset hex A gene change from one or both parents.
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 determine the level of hex A. A genetic test will be needed to make sure that the disease is Tay-Sachs.
Symptoms
What are the symptoms of Tay-Sachs disease?
A child suffering with Tay-Sachs disease looks healthy at birth. But if the child is:
- Age of 3 to 6 months, you can notice if the child makes less eye contact and has a hard time focusing his or her eyes on things.
- Age of 6 to 10 months, you can notice if the child is not as alert and playful as he or she had been. It might be hard for the child to sit up or roll over. You also may notice that the child does not see or hear well.
- Age of 10 months and older, the disease gets worse quickly. The child can have seizures, have an intellectual disability, lose his or her vision, and not be able to move.
Children who are suffering from Tay-Sachs rarely live beyond 4 years of age.
Early symptoms like clumsiness or mood changes can be minor or seem "normal" and go unnoticed in late-onset Tay-Sachs (LOTS).
Later symptoms of the disease can involve muscle weakness and twitching, slurred speech, and trouble thinking and reasoning. The symptoms rely on how much hex A the body makes.
Treatment
How is Tay-Sachs treated?
The prime focus of the treatment for Tay-Sachs disease is to control symptoms and make your child as comfortable as possible.
There is no known cure of it available. It may be helpful to seek counseling or find support from others who are going through the same thing you are.
If you are suffering from late-onset Tay-Sachs disease (LOTS), treatment also focuses on controlling symptoms. The type of treatment you receive, like medicine for depression, depends on the symptoms you have.
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.
Your child will need more care as the disease gets worse. One should encourage his 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.
