
                         Roanoke Times
                 Copyright (c) 1995, Landmark Communications, Inc.

DATE: SUNDAY, January 23, 1994                   TAG: 9401260024
SECTION: HORIZON                    PAGE: D-1   EDITION: METRO 
SOURCE: 
DATELINE:                                 LENGTH: Medium

WHAT IS TAY-SACHS?

Tay-Sachs is an inherited genetic disease. It is named after British ophthalmologist Warren Tay and American neurologist Bernard Sachs, who described and tracked symptoms in the late 19th century. The men noted that the condition appeared to crop up exclusively in families of Eastern European Jewish descent, those known as the Ashkenazic Jews.

How do you get the disease?

Victims are born with it. Both parents must pass a defective gene to the developing fetus.

What are the symptoms?

Tay-Sachs disease kills early and slowly. Affected babies appear normal at birth, but within 6 months of age, develop hypersensitivity to sound. Loss of muscular control follows. Convulsions may occur, the head grows larger and the skin yellows.

By age 2, most Tay-Sachs children go blind and become paralyzed. Death usually occurs by age 4 and can be caused by inability to swallow food or from suffocation, both related to the paralysis.

What is the treatment?

Tay-Sachs is always fatal. The disease itself cannot be treated, only the symptoms. Infants must be intensively cared for up to the point of death.

How do you become a carrier?

By luck of the genetic draw. The gene that causes Tay-Sachs is passed on by either parent to their offspring. Affected children have two defective genes, one from each parent. If one parent has the defective gene, and one does not, their child stands a 50 percent chance of being a carrier - unaffected by Tay-Sachs, but able to pass on the defective gene to their own offspring.

How many carriers are there now?

Exact figures are not available, but researchers estimate the U.S. number at several thousand.

In a one-year period ending June 30, 1993, roughly 36,000 American adults were genetically tested for Tay-Sachs, according to the California Tay-Sachs Disease Prevention Program, which acts as a national statistical clearinghouse. Of those 36,000, about 1,000 were identified as carriers. There were 25 at-risk couples - one carrier married to another carrier.

How can I find out if I am a carrier?

You can be tested for a small fee at almost any hospital or clinic throughout the United States. At the greatest risk are those of Eastern European Jewish descent, but the disorder is also present in the French Canadian population and also in descendants of Germans who settled in Pennsylvania. Other ethnic groups may be affected because of intermarriage.

Can the gene hurt me?

The defective gene can't hurt adults, but adults can pass Tay-Sachs on to their children.

What are doctors doing to prevent or cure Tay-Sachs?

There is no known cure. The only known technique to prevent the disease is a preconception genetic screening process - or the pioneering techniques developed at the Jones Institute.

Eventually, scientists may be able to repair the defective gene shortly after conception, while the child is in the mother's womb. That day, say experts, is at least a decade away.

by CNB