Fabry: A Road Less Traveled
— Jerry Walter

Recently, the Fabry disease (FD) community received disappointing news about an investigational oral treatment called venglustat. Results from the PERIDOT Phase 3 trial, which was evaluating venglustat in FD patients, did not meet its primary endpoint of reducing neuropathic and abdominal pain. Neuropathic pain is one of the…

Since writing my last column in December, I’ve been working to find the most effective exercise routine and remedies to prevent my blood pressure (BP) from rising too high. Uncontrolled hypertension can lead to heart attack, stroke, and other serious health issues. Until recently, like many people with…

For more than 20 years, I’ve had stage 3 chronic kidney disease. My Fabry disease also resulted in progressive heart failure, necessitating a heart transplant in 2020. I believe that receiving enzyme replacement therapy for nearly 23 years has kept my kidney disease from progressing to stage 4.

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…