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Beyond Tay Sachs: Gaucher Disease February-1-2002

By Peter Ciszewski Although not many people may have heard of Gaucher disease, this illness affects many in the Jewish community. Gaucher (pronounced go-shay) disease is an inherited illness that can cause symptoms ranging from none to symptoms that lead to severe disability and even death. This chronic illness is caused by an enzyme deficiency, which results in the build up of a certain type of lipid (glucocerebroside) in various body tissues. The most frequently diagnosed form, Type 1 Gaucher disease, is the most common genetic disease affecting Ashkenazi Jews. The disease occurs in 1 out of 450 births in this population, according to the National Gaucher Foundation. In fact, it is more prevalent than Tay-Sachs, and as many as 1 in 14 Ashkenazi Jews may be carrying the gene mutation that causes Type 1 Gaucher disease. A person must have two affected genes, one from each parent, to have the disease. A "carrier" is an individual with one copy of the gene. Though a carrier is not affected, if he or she has children with another carrier, their children may have the disease. When two carriers produce offspring, there is a 1 in 4 chance the child will have Gaucher disease; a 1 in 2 chance the child will not have the disease but will be a carrier; and a 1 in 4 chance the child will neither have the disease nor be a carrier (See figure). Symptoms The symptoms of Type 1 Gaucher disease are extremely variable. Some individuals are mildly affected and have little or no health problems, while others show much more significant manifestations of the illness, either from an early age or later in life. Some of the symptoms of Gaucher disease include lack of energy and stamina, enlarged spleen and liver, bone pain, spontaneous fractures, and increased bleeding tendency such as nosebleeds and bruising (see Table for a short self examination). Each Gaucher patient has a unique story. Stacey Feuer, a 25-year-old Type 1 Gaucher’s patient, for example, reports "I was healthy for 3 years. Then, one and a half years ago, my condition got worse - unexpectedly and for no reason. As a result, I underwent two surgeries, could no longer work and had to go on disability." Although Ms. Feuer experiences acute episodes of joint and bone pain, her most persistent and consistent daily adversary is fatigue. Another key challenge for her is the way others perceive her. "When I walk with a cane, for example," explained Ms. Feuer, "or park in a handicapped parking spot, people will approach me and ask why I’m doing these things. Walking can be a big hurdle for me sometimes, but others do not perceive this because I don’t look sick. With this disease, most people don’t know what you are going through." Ms. Feuer, who, despite the restrictions of her disease, conducts regular speaking engagements to raise Gaucher disease awareness, advises fellow patients and their caregivers to "find out as much information as possible. Make sure it’s from the right sources. Link with the Gaucher community and use them for medical, psychological and emotional support." Treatment, Testing and Information The majority of people with Type 1 Gaucher disease –even those with severe symptoms –are able to lead full lives if they treat the illness early and appropriately. Cerezyme“ (imiglucerase for injection) therapy has become the recognized treatment standard for Type 1 Gaucher disease and is manufactured by Genzyme Therapeutics of Cambridge, Massachusetts. Cerezyme“ therapy is an enzyme replacement therapy (ERT) that acts as a substitute for a naturally occurring enzyme. Because people with Gaucher disease have deficient enzyme activity, the most direct therapeutic approach to the disease is to supplement or replace the missing enzyme. Concerned couples and individuals can undergo testing to determine if they are carriers of Type I Gaucher disease. Gaucher disease carriers are not themselves affected by the disease, but can pass it on to succeeding generations. According to clinicians, DNA-based testing is the most reliable and accurate method available to determine carrier status. DNA testing detects nearly 90% of carriers for persons of Ashkenazi Jewish descent. According to a position statement released by the New England Regional Genetics Group, "The offering of carrier testing to persons of Ashkenazi Jewish background is not recommended as a standard medical practice, except if there is a family history of Gaucher Disease or a specific client request for such testing." Most family doctors offer carrier testing, and the process only requires a small sample of blood. Results are usually ready within two weeks. Support groups such as the National Gaucher Foundation (NGF), family, friends, others with Gaucher disease, physicians, and genetic counselors can also play a crucial role for patients. The NGF provides information and assistance to individuals and families affected by the disease. For more information about any facet of Gaucher disease, call the NGF at (800) GAUCHER (800-428-2437), or the Genzyme Medical Information at (800) 745-4447.

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