Meet Sara

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^{A snapshot of Fabry disease…}

“I am 43. I have different symptoms every day; my typical symptoms include difficulty breathing, appetite and sleeping problems, a lot of nausea. I have ringing in my ears, headaches, and just generally feel very ill, to different degrees, every day. I have pain throughout my body, sometimes incapacitating. I’ve read that as you get older, the pain decreases, but I do have pain every day, typically in my arms and legs, hands and feet. It varies from a stabbing, piercing type of pain to aching and throbbing. There are also times during a Fabry crisis [episodes of intense, burning pain] when I cannot get out of bed, when the pain feels like a dental drill or electrical shock going through my body.”

^{Early experiences…}

“When I was a little girl, the school detected heart problems that doctors said I would outgrow, and that my pain was just an issue that I didn’t want to go to school. In my twenties, I was told that I had arthritis, mono, bronchitis, many things. The only thing that was prescribed was aspirin. But no one took any tests to find out what I had.”

^{The diagnosis…}

“I was diagnosed at age 30, with the encouragement of my future husband. Eventually I found an internist, my current doctor, who researched my symptoms and confirmed the diagnosis with blood tests.”

^{Coping with Fabry disease…}

“When I wake up in the morning, I can typically tell what type of day it’s going to be, and a lot of times I’m very, very ill in the morning. I have to talk myself into getting out of bed and visualize myself moving around the house. I plan very carefully how I’m going to move about the house.”

^{Reaching out…}

“At first I didn’t want to meet other people who had the disease. I really didn’t want to talk about it. It’s still kind of a denial type of thing. But … it was extremely helpful to hear someone talk about the same things that I was going through. It was a real eye opener. It’s just a very unique experience, and a very good experience, too, to talk with others.”

^{Advice for others…}

“With a chronic illness, you have to go on every day and you have to get dressed and you have to do something, whether it be emailing one person that day.”

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