When Michael Margolis was 4, his doctor took his parents aside and told them he had a rare disorder called Type I Gaucher Disease. The disease, which strikes Ashkenazi Jews seven times more often than the general population, is a genetic disorder that robs patients of an enzyme that prevents a buildup of fatty tissues in the body. Victims develop a swollen spleen and liver, anemia-related chronic fatigue and debilitating bone pain.
In severe cases, the patient’s spleen sometimes swells so much that patient looks pregnant. Because the condition was considered incurable and untreatable until the early 1990s, Margolis and his family were told that all they could do was ignore it and hope for the best.
Doing so became harder as time went on. In their early 20s, Type I Gaucher (pronounced “go-shay”) patients typically start to go through “bone crises,” in which a buildup of fatty tissues blocks blood flow to the bones. The bones then die over a period of weeks in a gangrene-like process, leaving the patient in debilitating pain. Left untreated for a long time, patients develop weak skeletons and often need both hips replaced. They may also need their spleens removed to stop the progressively larger swelling of the organ that characterizes the disease.
All of that was happening to Margolis, who is 58 now and a television producer living in Valley Village. By 1991, when the FDA approved an enzyme replacement therapy for Type I Gaucher Disease he was only in his 40s, but he was looking at a future that included hip replacements, spleen removal and a weakened skeleton.
“If I had gone on without treatment … I’d have been in pretty sad shape right now,” Margolis, said recently. “I hate to see other people go through the same process needlessly.”
Margolis is on a mission to make sure no one does. Inspired by the success of the early-1980s campaign to raise awareness of Tay-Sachs Disease, he formed the Jewish-Associated Disease Action Committee (JADAC) this spring. The organization’s mission: To raise awareness in the Jewish community of Gaucher and other Jewish-associated genetic diseases, and to make them household names.
The committee’s first strike came last spring, when Margolis, whose professional credits include the 1990s reality show, “Crusaders,” used his professional chops as a TV producer to make an informational DVD about Gaucher Disease called, “A Message to Elijah.” Narrated by Elliot Gould, the DVD introduces new Gaucher patients to three Los Angeles-area patients who are living active, full lives with the disease. It has already reached 7,000 people, Margolis said, and JADAC plans to produce such a DVD for every Jewish-associated genetic disease. They list 15 such diseases on their Web site (
More news and opinions than at a Shabbat dinner, right in your inbox.