There are effective treatments for some variants of the disease. Enzyme replacement therapy is administered intravenously for the non-neurological presence of types 1 and 3 of Gaucher’s disease. Those with Type 1 may undergo substrate reduction therapy, which works by reducing the amount of glucosylceramide, or GL1, that a cell makes. Oral medication may be prescribed for those 18 and older or those with mild cases. Treatments can include pain reduction therapies, blood transfusions, orthopedic surgery for bones and joints, and, in rare cases, a splenectomy or spleen removal.

Because living with Gaucher’s disease is stressful, psychological care may be recommended. This metabolic disorder can exert a mental and emotional toll and patients and their families, who can help their loved ones make lifestyle changes, if they are needed. Some people experience severe pain and fatigue. For them, using crutches or a wheelchair for mobility may be the right answer. Seek support from the National Gaucher Foundation to learn more about the disease, treatments, and coping strategies.

A genetic disease specialist is recommended to monitor the progress of Gaucher’s disease and lead medical decisions. But a person with the disease may see many doctors because it affects many different parts of the body. Research and clinical trials relating to Gaucher’s disease are proceeding to develop additional means of treatment and/or a cure, including cell and gene therapy.

One researcher investigating Gaucher’s disease is Dr. Ellen Sidransky, Senior Investigator and Head of the Molecular Neurogenetics Section at the Medical Genetics Branch of the National Human Genome Research Institute in Bethesda, Maryland. Having studied the disease for two decades, she is now focused on why each mutation can produce a wide array of symptoms. Patients with similar symptoms can have very different genetic mutations. Patients with the same genetic mutation can experience very different symptoms. She says the disease is “proving more complex than I ever anticipated.”

Dr. Sidransky hopes to unlock the puzzle of the disease, which will have wide-ranging effects on other conditions. She says it “will give us a window into more complicated genetic problems and a whole range of more common genetic disorders.”