Columns

When I learned of our family’s first Fabry disease diagnosis on an August afternoon in 2019, I recall a sudden surge of energy and purpose as I walked from the doctor’s office to my car. I was on a mission. Distractions melted away, and I got to work connecting…

Receiving a medical diagnosis can change a person’s life in ways that go far beyond the physical symptoms of a disease. Whether the diagnosis is common or rare, chronic or progressive, the emotional and psychological impact can be profound. For many people, the journey after diagnosis becomes not only a…

There is a story that brings 5 million visitors each year to a hamlet nestled in the foothills of the majestic Pyrenees. Lourdes, France, has a population of only about 15,000, but massive crowds of pilgrims have flooded the town since 1858, when news spread of an apparition…

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 Disease News kicked off April’s Fabry Awareness Month with an article explaining the purpose of the month and how our community can get involved. One way to participate was by joining a virtual run/walk fundraiser hosted by the Fabry Support & Information Group (FSIG). Neighbors gather for…

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…

I was met with warm and welcoming smiles when I walked into a boutique hotel near Dallas, Texas, for the recent Fabry Support & Information Group (FSIG) Get Together. There, I spotted a familiar face standing next to a display table. It was Nancy Ngotho, the senior patient education…

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…

As a columnist for over three years, I have chronicled my family’s journey with Fabry disease by focusing on the experiences of three of my five children who inherited the Fabry mutation from me: twins Michael and Anthony, and Marisa. For this column, I wanted to give a…

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…