Living with Fabry Disease

This section provides profiles of people living with Fabry disease. The profiles presented in this section offer the opportunity to read about others who may share your experiences. Not everyone’s experience with Fabry disease is the same. You should always discuss your individual signs and symptoms with your physician.

These are profiles of actual people living with Fabry disease. To protect privacy, names and identities have been changed.

Jeff
"Before I was diagnosed, I saw a lot of doctors. The pain in my feet was probably the first thing I noticed. The doctor thought growth spurts were the cause. Then the cramping and diarrhea started, and they thought it was a spastic colon. Then I finally saw a doctor who got me tested and figured out it was Fabry disease."

Donna
"I took my 8-year-old daughter to the eye doctor for a routine exam. The eye doctor saw corneal opacities (clouding of the eye), which she thought was very unusual to see in such a young person. The eye doctor did some research and came back to us with this diagnosis of Fabry disease. She checked me and I had the corneal opacities, too, and so did both my sons. We were sent for genetic counseling, and we had a definitive blood test that showed we actually did have Fabry disease."

Adrian
"Before I was diagnosed, I began going to doctors when I was in my twenties. They told me that I had arthritis, mono, bronchitis—many, many things like that. At age 30 I saw a rheumatologist who did some blood tests and referred me to another doctor who researched my symptoms and said it was probably Fabry disease. Another blood test confirmed the diagnosis."

Sean
"I would definitely say my symptoms have changed over time. When I was young, it was diarrhea once in a while, and so the doctors just assumed it was lactose intolerance. But now it's a lot of different things, like throwing up, and pains in my toes and chest. And I have a definite problem with heat."