Many With Gaucher Unaware of Disease

When Jewish New Yorker Joan La Belle, now 70-something, was in her mid-20s, she began to experience scary symptoms, suggesting a serious health problem: “I felt exhausted, had rough menstrual periods with very heavy bleeding and terrible nose bleeds.”

She also suffered substantial hemorrhaging in childbirth, she said in a recent telephone interview from Minneapolis, where she has been a longtime resident.

Hemorrhaging and an enlarged spleen — another of her symptoms — are often misdiagnosed as leukemia, and bone pain is often mistaken for arthritis, so La Belle said that she really didn’t know the actual cause of her symptoms for years.

Finally, 15 or 20 years ago, a Jewish physician filling in for her regular internist correctly recognized her enlarged spleen as an indicator of Gaucher (pronounced go-SHAY) disease, to which Jews are especially susceptible.

Gaucher is sufficiently rare that many doctors weren’t and still aren’t aware of it. And when LaBelle was diagnosed, “they were just doing research, and there was not a glimmer of hope” for a treatment, she said

But then, medical researchers produced the enzyme regimen that LaBelle needed, and for the last 12 or 13 years, she has received regular infusions that have dramatically improved her life, she said. These enzyme treatments completely control her symptoms, LaBelle reported.

“Prior to the [enzyme therapy], I used to have hemorrhaging and my hemoglobin was very low,” she said. “But, now it’s normal.”

LaBelle receives intravenous infusions of the latest formulation of the enzyme, called Cerezyme, at a local Minneapolis hospital every other week. It takes 60 to 75 minutes, she said. The length of time per patient varies, depending on the number of units a patient needs.

LaBelle said “every couple of months” she has a “bone crisis,” which is an event of intense pain that occurs because of a sudden lack of oxygen in an area where Gaucher-affected cells have interfered with normal blood flow. The episode can last for hours or days. She said she treats the pain with medication.

Based on statistical probability, half of the Gaucher patients at the Lysosomal Diseases Treatment Center at Children’s Hospital of Wisconsin should be of Ashkenazi (Central and Eastern European) Jewish heritage.

In fact, however, only one of the eight Gaucher patients, though not Jewish, believes he has Ashkenazi ancestry. The reason could be the lack of knowledge about the disease, said genetic counselor Amy White, who works at the Lysosomal Diseases Treatment Center.

This means that many people who are at risk or suffering have not been diagnosed or treated. The disease is not thought to be life threatening, but it’s chronic and painful and doctors frequently mistake the symptoms for something else. However, even when it’s recognized, treatment remains extremely expensive.

The undiagnosed cases are probably due to “a lack of awareness among both medical and lay communities,” according to the National Gaucher Foundation (NGF).

So this year for the first time, the NGF designated a “National Gaucher Disease Awareness Month” in the hope of educating health-care providers and the public about the importance of recognizing the signs and symptoms of the disease. The results of this effort, which took place in September, are not conclusive, but researchers and advocates especially wanted to reach the Jewish community, where this often painful and debilitating — but highly treatable — disease is most prevalent.

According to the National Gaucher Foundation, Gaucher disease occurs when a person inherits a mutated gene from both parents, but if the person inherits a mutated gene from one parent and a normal gene from the other parent, he or she will not have the disease but may be a carrier. A carrier may pass the gene on to the next generation, depending on the genetic makeup of the person he or she marries.

White said that the Lysosomal Treatment Center has a lot to offer Gaucher patients, in addition to the life-changing Cerezyme infusions. Despite being located in Children’s Hospital, the genetics center, headed by Dr. William J. Rhead, chief of the generics department, does not limit its services to children.

“We see any individual or family who has a genetic condition,” White said. “We provide an initial evaluation and make recommendations as to specialists in Gaucher disease.”

The center also provides semiannual or annual evaluations of the course of a patient’s disease, as well as its treatment. It takes X-rays, does bone MRIs and CTs of the liver and spleen and conducts specialized blood tests for Gaucher Disease markers. These tell a patient how the disease is progressing and whether the Cerezyme dosage is adequate.

In addition, the center provides genetic counseling to couples contemplating pregnancy, as well as to expectant parents. It also counsels patients and their families on the psychosocial aspects of the disease.

The genetics center can assist Gaucher patients with medical insurance issues, an important service because of the cost of Cerezyme.

A version of this article was first published in the Wisconsin Jewish Chronicle.