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…
Columns
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…
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…
The month of January tends to make people bloom with optimism and fresh resolve to achieve their wellness goals. However, the “take control of your health” message doesn’t resonate with people with Fabry disease. This time of year is a reminder of how much is outside of a Fabry…
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.
We were excited the first time our patient education liaison from pharmaceutical company Sanofi offered to take us out to a fancy restaurant. Several members of my family had just been diagnosed with Fabry disease, and we planned to talk about the condition over dinner. As a family of…
Racing down a hill I travel daily, not realizing that my car was going almost as fast as my mind, I caught sight of police lights in my rearview mirror. What?! Not a ticket! Could my day get any worse? That was the day we were told that my 9-year-old…
Sitting by the stone hearth at La Madeleine restaurant, two friends and I vulnerably shared our thoughts over soup and salad. The three of us savor life updates, laughter, and counsel. We have many things in common: We are committed Christian women, each with four sons and a daughter. We…
Recent Posts
- Finding my tribe at FSIG’s recent Fabry community get-together
- New monthly dosing of Elfabrio approved in EU for some Fabry patients
- Understanding the significance of lyso-Gb3 in Fabry disease
- FDA grants orphan designation to new Fabry cell therapy GT-GLA-S03
- Sangamo seeks accelerated US approval of gene therapy for Fabry
- Common Fabry symptoms often mimic IBS in adults
- Two of my sons share what it’s like having three siblings with Fabry
- Idorsia outlines new Phase 3 program for lucerastat in Fabry disease
- Jeff’s Journey With Fabry Disease
- Eye vessel abnormalities may signal heart disease in Fabry patients