Behind the Headlines a Debilitating ‘jewish Disease’

Thousands of Jews throughout the world are afflicted with a debilitating genetic disorder that, although the most prevalent of “Jewish diseases,” remains virtually unknown to its potential victims.

Discovered by a Frenchman named Phillippe Gaucher (pronounced Goshay) in 1882, the disorder — Gaucher’s disease — affects mostly Ashkenazic Jews, of whom one out of 12 is a potential carrier, according to the recently established National Gaucher Foundation, which supports research on the disease as well as assorted programs to help those who suffer from it.

With 20,000 diagnosed cases in the U.S. alone — 80 percent of them Jewish — Gaucher’s Disease is twice as common among Ashkenazic Jews as the better-know Tay-Sachs, a fatal genetic disorder which, like Gaucher’s is caused by the absence of a certain enzyme.

Estimates pcint to one in 40,000 as potential victims of the disease among babies born into the general population. Of those born to Jews, the figure is one in 600.

NATURE OF THE DISEASE

Scientists have attributed Gaucher’s to the absence of the enzyme glucocerebrosidase — a deficiency which causes the body to store abnormal quantitites of fatty materials, called lipids, in the liver, spleen and bone marrow.

The disease, which can be diagnosed at any age, frequently causes an enlargement of the spleen or liver, or both, as well as chronic anemia, bleeding and painful bone inflammation, which sometimes requires hip and other bone replacements. Its victims often develop an abnormally distended abdomen, which brings extreme discomfort and listlessness.

“Children who have the disease look like they’re pregnant with triplets,” Jill Talisman, who was recently appointed the National Gaucher Foundation’s executive director, said in a telephone interview. Talisman said she initially became interested in Gaucher’s Disease through her acquaintance with a couple whose two children had acquired it.

Perhaps the most disturbing feature of Gaucher’s is its continued success in eluding the attention of those most likely to be affected. Even physicians frequently misdiagnose the disorder — not uncommonly as leukemia — and once they detect it through a skin biopsy do not always prove to be sufficiently informed themselves about its nature, according to Talisman.

A woman from Indiana, for example, called the Foundation recently after being diagnosed as having Gaucher’s by a doctor who told her the disease was fatal. But Gaucher’s is seldom fatal, Talisman said. And like Tay-Sachs, which she observed has “virtually been obliterated” thanks to research and a massive publicity campaign, it is not unavoidable.

As a genetic disease, Gaucher’s can only affect children born of parents who are both carriers of the defective gene. In that case, there is a 25 percent chance the child will inherit it, according to the Foundation. As with Tay-Sachs, a blood test can establish whether prospective parents are carriers.

Although scientists have yet to find a cure for Gaucher’s or a surefire treatment for its symptoms, research in the U.S., Israel, The Netherlands and elsewhere appears to be making some headway. The gene which produces the enzyme lacking to Gaucher victims has been identified and cloned.

At the National Institutes of Health in Washington, the enzyme has been successfully extracted from human placenta and is currently being administered to a group of afflicted children on an experimental basis.

But if a cure remains a long way off, the chances of eliminating the disease through public awareness and consequent prevention seems a good deal more promising than it must have appeared to a California man named Rubin Bakin some 15 years ago. A victim of Gaucher’s Disease, Bakin placed advertisements in newspapers throughout the country, in search of others who suffered from the same disorder. As far as he knew at the time, none existed.

MUTUAL HELP NETWORK

Once the responses began coming in, however, it became clear that Bakin was not alone, and the basis for a loose information and mutual help network was established. Bakin, who has since died of causes unrelated to the disease, started a newsletter to keep Gaucher patients, as well as medical practitioners and organizations, informed on developments in the disease and in research to eliminate it.

Today, his newsletter, the Gaucher’s Disease Registry, is distributed to 49 states and 17 countries. Prepared by a volunteer who suffers from the disorder, the bi-monthly newsletter is one of the projects founded by the National Gaucher Foundation.