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Patients and Caregivers If you have just learned that you, your child, a relative, or friend has Gaucher disease, this may be the first time you have heard of this disorder. Gaucher (pronounced go-shay) disease is a relatively rare genetic disorder that has received little public attention. Fortunately, in the past few years health care professionals have become more aware of the disease. Research has led to treatment options for Gaucher disease. A wide range of resources and support services is also available for patients and their families. This website is designed to help you and your family learn more about Gaucher disease and the treatments and resources that are available to you. What you learn here may help you discuss Gaucher disease more comfortably with your physician and other health care professionals. |
Did you know... Doctors diagnose Gaucher disease by using a simple blood test called an enzyme assay. The assay for Gaucher disease measures activity levels of the enzyme glucocerebrosidase in white blood cells or skin cells. Individuals who are affected with Gaucher disease will have very low levels of enzyme activity. However, the assay cannot determine disease severity. Learn more in Diagnosing and Testing >> Did you know... For more than a decade, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease. Learn more about participating in the Gaucher Registry>> Genzyme USA |


