Tay-Sachs is rare, misunderstood

Wednesday, Aug. 4, 2004 | 11:07 a.m.

The numbers of Tays-Sachs cases are low, but they may not be complete for a variety of reasons, experts say.

The Nevada Office of Vital Statistics in Carson City says there was one recorded Tay-Sachs death in the state in 2000, one in 2001 and none in 2002. Preliminary findings for 2003 are that there were no Tay-Sachs deaths that year, state vital statistics officials said.

According to the National Tay-Sachs and Allied Diseases Association, based in Brighton, Mass., only about 30 to 50 new cases of Tay-Sachs are diagnosed each year in the United States.

The National Organization for Rare Disorders says Tay-Sachs disease occurs in one in every 112,000 live births.

Tay-Sachs affects males and females in equal numbers, the organization says.

Because Tay-Sachs is so rare and takes young lives so quickly, experts are not sure how many children die annually from the disease or are suffering from it worldwide at any one point.

Jayne Gershkowitz, executive director of the National Tay-Sachs and Allied Disease said Tay-Sachs is so rare her organization has no formal registry for keeping track of deaths. Other organizations say they also do not have good numbers on the afflicted.

Bill Crews, spokesman for the Centers for Disease Control and Prevention's National Center for Health Statistics in Maryland, said because of Tay-Sachs' rarity, the agency has no statistics on deaths or numbers of people currently afflicted with the disease either nationwide or by state.

"It is so hard to get good, accurate numbers for rare diseases," said Mary Dunkle, spokeswoman for the National Organization for Rare Disorders, a Connecticut-based umbrella group for more than 6,000 rare diseases that afflict 25 million Americans.

With Tay-Sachs and rare diseases in general, she says, there are misdiagnoses and the reporting of instances often is not up to date.

"One of the biggest complaints we receive regarding rare diseases from families of the affected is that they have trouble getting proper diagnoses, Dunkle said.

"Many doctors see some of these diseases maybe once in their careers or never, so it is difficult to diagnose them. With rare diseases we often tell doctors something may look like a horse but keep in mind it might just be a zebra."

According to the National Institute of Neurological Disorders and Strokes, carriers of Tay-Sachs have a genetic mutation of hexosaminidase A, an enzyme. That condition causes a fatty substance called ganglioside to accumulate abnormally in cells, especially the nerve cells of the brain.

Although a child often appears normal at birth, the disease progresses, slowing a child's development and destroying motor skills. It eventually leads to retardation, breathing difficulties and paralysis before death, experts say.

Although it could be hundreds of years old, Tay-Sachs was first identified in 1881 by British physician Dr. Warren Tay. Six years later, American neurologist Dr. Bernard Sachs first described the neurology of the illness. They gave their names to the ailment.

However, it was not until 1945 that medical researchers learned of the fatty tissues that destroy healthy cells.