Tay-Sachs Disease

Tay-Sachs disease is a genetic condition that can impact a young child’s mental and physical development. In fact, children with Tay-Sachs disease have impaired sensory and movement capabilities that interfere with normal growth patterns and with their health. This article provides you with facts about Tay-Sachs disease as well as information on caring for kids with this condition.

What is Tay-Sachs Disease?

Tay-Sachs disease is a genetic condition in which children are born without an enzyme that is central to vital functions such as vision, hearing and movement. The absence of this enzyme, known as Hexosaminidase (Hex A), results in the inability to clear out fatty protein and unwanted materials from the body that interfere with normal growth and development.

Consequently, a child will develop problems with respect to vision, hearing, movement as well as neurological development.

What Are the Signs and Symptoms of Tay-Sachs Disease?

A child with Tay-Sachs disease will follow normal development patterns during the first 3 to 6 months of his life. However, during the coming months and years, a baby will begin to lose his ability to see, hear, as well as to move.

In addition, red spots that are sometimes referred to as “cherry spots” will begin to form in the back of their eyes. A child will also lose the ability to smile, crawl, as well as exhibit reduced motor skills, such as the ability turn over and reach for objects.

By the time a child with Tay-Sachs diseases is 2 years old, he will experience seizures and become completely disabled.

Death due to recurring infection usually occurs by the age of 5.

Rarely, a child may have the Hex A enzyme, but not have enough of it to acquire developmental problems. This condition is known as Juvenile Hex A Deficiency. Growth abnormalities begin to appear between the ages of 2 to 5, and develop more slowly than in traditional Tay-Sachs disease; unfortunately however, death usually occurs by age 15.

In milder forms of the disease, children will develop muscle weakness and slurred speech, but mental and sensory capabilities will remain intact.

Who’s At Risk for Tay-Sachs Disease?

The trait for Tay-Sachs disease is fairly common among certain ethnic populations, particularly among Ashkenazi Jews, as well as in individuals of Eastern European descent, French Canadians and French Cajuns.

Among Ashkenazi Jews, one in 27 people are carriers, while among the general population one in 250 people are carriers.

Each year, 16 cases of the disease are diagnosed in the United States.

Diagnosis for Tay-Sachs Disease

Prenatal diagnosis can be conducted between 10 to 12 weeks in the form of chorionic villus sampling (CVS). In this procedure, a placenta sample is drawn into a needle or small tube for analysis.

Between 15 to 18 weeks, an amniocentesis is conducted, during which a needle is inserted into the belly in order to draw a sample of amniotic fluid that surrounds the fetus.

A physical exam and blood test can help to assess for Tay-Sachs disease if your child has been experiencing sensory or movement problems.

Tay-Sachs Disease Screening

Couples planning to get pregnant should get screened with a blood test to see if their child will have the disease.

When two carriers of the Tay-Sachs disease gene have a child, there is a 50% chance that the child will also be a carrier and not have the disease. There is a 25% chance that the child will not be a carrier and not have the disease, while there is a 25% chance that a child born to two carriers will have the disease.

If you and your partner are carriers and you are planning to have children, your health care provider will likely provide you with a referral to a genetic counselor.

Tay-Sachs Disease Treatment Options

Currently, there is no treatment or cure available for Tay-Sachs disease, although research is ongoing.

However, anticonvulsant medications can help to minimize preliminary seizures in kids with Tay-Sachs disease. Other supportive treatment options include proper nutrition, hydration as well as the use of such aids as a feeding tube.

Caring for Kids with Tay-Sachs Disease

Your child’s physician will also be able to provide you with information and resources such as local support groups that can help you care for your child. In addition, your pediatrician can prescribe medication that can help to relieve such symptoms as pain, seizures and muscle spasms.