On this page you can read about the Gaucher Initiative and learn the basics about Gaucher Disease. For more information on Gaucher Disease, you can visit the National Gaucher Foundation.

The Gaucher Initiative

I’ve been working with the Gaucher Initiative on behalf of Genzyme for the past seven years. The initiative is a humanitarian program that was established in 1999 to assist people in developing countries who are afflicted with Gaucher Disease. It is based on a collaborative effort in which Genzyme provides the medicine Cerezyme and Project HOPE, a nonprofit humanitarian organization, distributes the drug through its international infrastructure.

Patients accepted into the program are provided with the enzyme replacement therapy Cerezyme, which has been the standard of care for treating Gaucher disease since it was introduced in 1994. More than 250 patients in 19 countries across Asia, Africa, Latin American and the Middle East have benefited from the program. In addition, Genzyme provides free medicine to another 350 people with rare genetic diseases through related initiatives.

The Gaucher Initiative is guided by an expert medical committee of six internationally respected physicians. The group makes patient treatment decisions, monitors and reviews patient progress and advises the local physicians on appropriate patient care and correct administration of the treatment. I have the honor of working with this dedicated team to ensure the patients have adequate supplies of the treatment materials. I also have the great pleasure of meeting many of the patients served by the initiative.

Since this effort began everyone collaborating on the Gaucher Initiative has worked to increase understanding of Gaucher disease among physicians, patient advocates, and governmental organizations. Our efforts are making a difference in many lives. You can read more about the people served by the initiative by choosing one of my journey destinations at the right.

About the Disease

Gaucher disease is an inherited, genetic disorder that afflicts approximately 1 in 50,000 people, or about 10,000 people worldwide. People with Gaucher disease lack sufficient levels of a particular enzyme that breaks down a fatty material, or lipid, into waste that can be removed from the body. Without enough of the enzyme to break it down, the fatty material accumulates in the cells of organs and bones. This accumulation can cause mild to severe symptoms that can appear at any time throughout life, but usually are first noticed in childhood or adolescence. They include:

• easy bleeding and bruising
• excessive fatigue
• anemia
• weak bones fracturing too easily
• bone and joint pain
• enlargement of the belly through increase in the volume of spleen and liver.

The type and severity of symptoms can vary widely among individuals. Some individuals do not experience any symptoms until they are adults, while others may develop life-threatening conditions during childhood. Gaucher disease is progressive and, if left untreated, will usually become worse over time. With treatment, the disease process itself can be addressed, alleviating and usually reversing the many effects of Gaucher disease for most patients.