Because having Fabry disease means unexpected things often happen to me, I always have fresh topics to write about. Recently, I’ve experienced several odd occurrences. While I was asleep on the night of April 23, I felt a severe pain in my right calf and heel. Half awake,…
Fabry: A Road Less Traveled – a Column by Jerry Walter
Note: This column describes the author’s own thoughts about Fabry disease treatment. Not everyone will have the same response to treatment. Consult your doctor before starting or stopping a therapy. Like most boys and men with classic Fabry disease, I do not perspire when my body gets hot from strenuous…
Every 10 to 11 days, I receive an infusion of one of the two enzyme replacement therapies (ERTs) approved in the U.S. to treat Fabry disease (FD). This is a little more frequent than usual, as most patients receive ERT every two weeks. November 2026 will mark 24 years…
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…
In a portion of the population with Fabry disease (FD), strokes and transient ischemic attacks (stroke-like symptoms that last only a short time) are a common manifestation of the disease. As a Fabry patient, the potential for stroke is scary. In 2011, a cousin of mine who had FD…
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…
Recent Posts
- I’m finally taking the increased risk of stroke in Fabry disease seriously
- Genetic testing uncovers 10 new GLA mutations in Fabry disease
- Computer-assisted test offers new individualized way to track Fabry
- Having Fabry may be ‘independent risk factor’ for heart issues, per case
- Japan newborn screening program flags 77 potential Fabry cases