Newly added information:

Mutations & Fabry Video

Learn about the role certain genetic changes, mutations, or variants play in Fabry disease

Share your Story

Your story can be a source of inspiration and education for other members of the FabryConnect community

Fabry Disease Resources

Explore resources and support groups that can help you and your family better understand and live with Fabry disease.

Watch as John Crowley, Chairman and CEO of Amicus Therapeutics, tells his story of raising two children with a rare genetic disease—and how that led him to build a company with a focus on developing advanced therapies to treat a range of serious rare diseases.

About Fabry disease

Fabry is a rare disease caused by gene mutations. People with Fabry disease have trouble breaking down and getting rid of certain fatty waste substances. The disease can affect many parts of the body, including the kidneys, eyes, heart, skin and others. Every person may experience the disease differently. Learn more about Fabry disease.

Fabry Fast Facts