Fabry: A Road Less Traveled
— Jerry Walter

Chronic lower extremity edema is common among people with Fabry disease. This type of swelling occurs because of fluid buildup and may range from mild to pitting — when the swollen skin is pressed and an indentation remains. Before I began receiving intravenous enzyme replacement therapy (ERT)…

Since undergoing a heart transplant in September 2020, and after almost 23 years of enzyme replacement therapy to treat my Fabry disease, I have been enjoying relatively good health. My transplanted heart is in great shape. My kidney function has improved significantly. My lung function has returned to a…

Fabry disease can be an indirect cause of cancer after a transplant. I’m an example of that possibility. After my 2020 heart transplant at Duke University Medical Center, I was told that my risk of developing cancer was higher. The organ transplant antirejection medications I must take…

For several years before I had a heart transplant in September 2020, I’d become progressively weaker, more fatigued, and out of breath. Like many others with Fabry disease, I had heart, kidney, and lung disease, and I’d lived an increasingly sedentary lifestyle for several years. As my…

The manifestations of my Fabry disease are much improved and now stable after more than 21 years of enzyme replacement therapy, as well as a heart transplant I had in late 2020. But Fabry continues to occasionally surprise me. In the past few years, for example, I’ve…

Sharing my experiences with Fabry disease and spreading awareness of the condition are top priorities for me. Since Fabry disease was first described in 1898, researchers and advocates have worked to achieve a better understanding of the disease, improve how it’s managed, get new treatments approved, and…

I haven’t read any medical literature indicating that Fabry disease weakens the immune system, but most post-transplant medications do. Many people with Fabry have organ failure and thus need kidney or heart transplants.   The antirejection medications we must take for the rest of our lives weaken our…

My inspiration for writing about Fabry disease pain this month came from the graphic representation of pain shown below. Neuropathic pain is a common manifestation of Fabry that is studied and written about frequently, but this illustration is unique. It was shared with me by the pharmaceutical company…

This week, I turned 69 years old. As a man with classic Fabry disease, I consider this achievement both significant and unexpected. I’m still getting used to the idea that living this long is possible for people like me, after believing that it wasn’t for most of my adult…

This month, my niece Katrina posted a happy birthday message on Facebook to her daughter, Isabella, my grandniece who turned 8 years old this month. Katrina describes her as sweet, spunky, and stubborn. I’m not surprised to hear she’s stubborn, as the trait seems to be in our family genes.

Two upcoming gatherings are reminders about the importance — and availability — of Fabry disease information for those like me who live with the condition. First up is the 13th annual Fabry Family Education Conference, set for Sept. 20-22 in Greensboro, North Carolina. Close on its heels, Sept.