Obscurity intensifies Gaucher disease’s risk

Karen Zekan

Saturday, Feb. 7, 1998 | 10:35 a.m.

It's silent, and deadly.

But the one in 60,000 people known to have Gaucher Disease are not alone.

People like Judy Radford are the reason.

Her goal is to make Gaucher (pronounced go-SHAY) a household word so that the public understands its devastating impact on its victims. As president of the local fund-raising chapter, she also wants to keep money coming in to the National Gaucher Foundation so that its victims will have a shoulder to lean on.

Gaucher, in its worst of three forms, can be horrendously painful and sometimes life threatening.

Its victims inherit a defective gene that prevents the body from producing sufficient amounts of an enzyme called glucocerebrosidase, or "GC" as it is known in the medical community.

GC helps the body remove and recycle worn-out cells by ridding them of a fatty substance that otherwise collects in the spleen, liver and bone marrow. Such affected "Gaucher" cells enlarge the organs and keep them from working properly.

Not all victims have symptoms. A person can be a carrier of the disorder but never have symptoms if only one parent passes on a Gaucher gene. Two carrier parents have a 25 percent chance of producing a Gaucher child. One carrier parent and one Gaucher victim have a 50 percent chance of having an affected child.

The disease, first described by the French physician Phillipe Gaucher in 1882, is most common among Ashkenazi Jews -- those of Eastern European descent. This same group is also afflicted by Tay Sachs, Bloom's Syndrome, Canavan, Crohn's, Dystonia, Niemann-Pick, Familial Dysautonomia and Mucolipidosis diseases.

After years of research, scientists have isolated the responsible gene. Beginning in 1991, patients have begun undergoing intravenous treatments during one- to two-hour sessions at hospitals or home to replace the defective enzyme with a modified form.

Gaucher victims vary in the degree of enzyme deficiency. Some have little or no problems, while others suffer painful and sometimes life-threatening conditions.

Gaucher cells accumulating in the spleen can lead to anemia, frequent and heavy nosebleeds, or weakened resistance to disease. Gaucher cells in bone marrow can deform bones, cause bone and joint pain, and lead to fractures and immobility.

It's diagnosed by a simple blood test to determine if the person carries the responsible gene. Symptoms begin at any age.

But what frustrates Radford is that many victims are misdiagnosed as having leukemia or arthritis.

"Some doctors don't know what Gaucher is," she said, "and some of them don't even care."

Which is why Radford, herself a Gaucher victim, is so eagerly looking forward to the NGF fund-raiser the Las Vegas chapter is holding Feb. 11.

A total of 43 people so far have promised to attend the "Canasta-Pan-Mah jongg Luncheon" that will be held in a chapter member's home.

All proceeds will go to NGF, which organizes support groups and provides newsletters, Internet information, financial help, medical referrals, and links patients, parents, medical experts and organizations.

The financial drain on victims can be overwhelming. NGF helps those who have no insurance or means to pay for treatment. Radford knows the disease can be an overwhelming financial drain; her insurance company helps her afford her medication, which she said averages $30,000 a month.

NGF's ultimate goal is to find a cure.

Fewer than one in 60,000 people have Type 1 Gaucher Disease, which is the most common form. Symptoms vary from enlargement of the spleen or liver, anemia, increased tendency for bleeding and skeletal damage. The disease, if detected early, is treatable.

Type 2, however, is more rare and progresses quickly. It affects the brain as well as the organs that suffer in Type 1. Children usually don't survive beyond age 2.

Type 3 affects the central nervous system in addition to the liver, spleen and bone marrow. Victims who survive their teens often live into their 30s and 40s.

For more information on the Feb. 11 fund-raiser or the next Gaucher support group meeting scheduled for Feb. 24, contact Radford at 255-9034.