"I deal with my condition in the same way I approach a challenging project at work... I learn as much as I can and work closely with smart people who can help me."

Patients and Caregivers

What is Gaucher Disease?

Gaucher disease is a chronic, progressive, inherited genetic disorder caused by insufficient levels of a particular enzyme. As a result, a fatty material accumulates in the body and can cause mild to severe symptoms.

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Living with Gaucher Disease

Receiving a diagnosis of Gaucher disease can be a life-altering event for patients and their families. The resources in this section are intended to help you and your family cope with Gaucher disease in your everyday life.

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Signs and Symptoms

Gaucher disease has a wide range of symptoms, and people may experience different degrees of disease progression. Because the signs and symptoms are variable, it affects each individual differently.

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Patient Stories

When you face a new challenge, it helps to learn from someone in a similar situation. Many individuals with Gaucher disease have been helped by talking and listening to others who have "been there." 

Resources & Support

The resources and support listed in this section are intended to help patients and families get additional information they need about Gaucher disease. Among others, the resources here include listings of patient advocacy groups, and links to related websites.

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The Gaucher Registry

For more than two decades, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease.

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