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No cure, but Gaucher is treatable disease

by Helen Mintz Belitsky

Washington Jewish Week
Thursday, December 8, 2005
Special to WJW

When Dr. Robin Berman's 3 1/2-year-old-son, Brian, was diagnosed with Gaucher disease in 1983, she gave up her alternative medicine practice to offer her services free of charge to the National Institutes of Health.

There, Dr. Roscoe Brady, a world expert on Gaucher, was working with researchers on modifying an enzyme taken from the placenta to replace the hereditary deficiency of the single essential enzyme that causes the disease. The Potomac physician wanted to give her son the chance to be one of the first to be treated with the new therapy. He turned out to be the very first.

In 1983, there wasn't a glimmer of hope for a treatment, only palliatives, says Dr. Ken Rosenbaum, director of the Center for Prenatal Evaluation at Children's National Medical Center, and past chair of the department of genetic medicine at the Medical Center. Genetic screening for the disease didn't exist.

Difficult to diagnose, the disease was often mistaken for arthritis because of bone pain. The most common symptoms in adults are bone breaks, bone infection, unusual bleeding and fatigue. September 2005 marked National Gaucher Awareness Month.

Rosenbaum started the Gaucher program at the center. Gaucher, he says, is the most common Jewish genetic disease, because with the advances in Tay-Sachs screening, fewer women are becoming pregnant if they are Tay-Sachs carriers.

One in an estimated 450 Ashkenazi Jews suffers from Gaucher and one in 14 is a carrier, according to the National Gaucher Foundation. Ashkenazi Jews became susceptible to a variety of hereditary diseases because of their long history of sudden periods of population contraction (the Crusades, pogroms, the Holocaust), followed by concentration in restricted areas, such as ghettos or the Pale of Settlement, and then temporary multiplication to large numbers.

Brian Berman was diagnosed through bone marrow testing. Family testing at the same time revealed that Robin, her husband, Dennis, and 4 1/2-year-old Jeffrey were carriers.

By December of that year, Brian was very ill. His legs and arms were painfully thin, his spleen was enlarged and he had bruises everywhere. The disease was escalating rapidly. That month, the enzyme was ready.

Brian became the first to receive treatment that worked for a genetic disorder. He took a long time to heal, and he was very small for his age, but the treatment changed his life completely, and as an adult, he caught up physically.

In 1991, the drug was approved by the FDA. By that time, the Bermans had three more children. Joshua had the disease, and was treated by the time he was 2 1/2; Naomi was a carrier; Benjamin has Gaucher; and Chavie has not yet been tested.

They are all grown and doing well, according to Berman. In 1994, Berman returned to her alternative medicine practice. She was one of the founders and now is CEO and medical director of the Rockville-based National Gaucher Foundation.

Melissa Landau Steinman, 36, of Chevy Chase, dramatically makes the case for genetic screening. If she hadn't been urged by her cousin, Daryl Froelich, to submit to the screening when she was 29 and pregnant with her first child, life might have taken a different turn for her and her family.

She was asymptomatic, but screening results showed that she had the disease, and that her husband, William, was a carrier. There was a 50 percent chance that the child she was carrying would have the disease.

"My diagnosis," says Steinman, "required immediate decisions, and led to wrenching discussions between me and my husband that created a lot of stress. Should I carry to term? Should I have amniocentesis?"

The couple decided against the procedure because of the risks it entailed. "Besides," she says, "we would not have considered terminating the pregnancy because of a disease that has a wide range of symptoms, some of them not always severe."

The child, Charlie, now 7, turned out to be a carrier, as revealed by blood drawn from the umbilical chord at birth.

Steinman, a lawyer who works part time for Venable Law Firm, did not return for the full range of testing until she was thinking of having a second child.

"The results showed I had an enlarged liver and spleen," she says. "Looking back, there had been other signs. I had hemorrhaging during my delivery, a possible symptom of Gaucher, as well."

With hindsight, she acknowledges that she was more tired than she should have been. She attributed the fatigue at the time to motherhood.

She began Cerezyme® therapy, the latest formulation of the missing enzyme delivered through intravenous infusion once a month. Some patients receive the infusion every two weeks. The treatment effectively controls the disease, and did in Steinman's case.

She and her husband, from whom she is now separated, decided to have another child. She had to drink a lot of water to shrink her liver and spleen to make way for the baby. The couple again opted against amniocentesis.

James, now 3, was born with the disease. He is currently asymptomatic and is being monitored carefully. His parents have decided against an MRI, which might have shown enlargement of the liver and spleen or bone damage, because it requires anesthesia with its attendant risks.

Some people with the disease, her doctor told her, come in at age 80 with the first symptoms.

Current research, says Rosenbaum, which concentrates on how best to deliver the drug, is also concentrating on the development of gene therapy ‹ that is, at the most basic level, to convince cells to produce their own enzyme. Rosenbaum urges at-risk families to have genetic testing, which can provide information not only about the patient being tested. It can give accurate information about other family members.

"With the establishment of the replacement enzyme," he says, "people with the disease are getting their lives back."

Information on Gaucher and on testing is available from the National Gaucher Foundation, 800-925-8825.

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