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.
It was a typical school day for most 17-year-olds, but for my twin sons Michael and Anthony, there was nothing ordinary about Oct. 22, 2019. It was the first day of enzyme replacement therapy (ERT) for both of them, to treat Fabry disease. The adventure ahead was unpredictable,…
I’m not sure which surprised me more — that my 75-year-old mother was open to the obnoxious process of spitting into a saliva sample for a second time, or that my dad might have the Fabry mutation that three of my children and I share. We recently learned about…
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.
My first column for Fabry Disease News introduced readers to my family’s Fabry story. In it, I described the unexpected “crooked lines” of a summer trip that led to my twin teenage sons — Anthony and Michael — being diagnosed. As we evaded one storm — with…
I’ve been receiving biweekly infusions of enzyme replacement therapy for Fabry disease for over 20 years, and I had a heart transplant in September 2020. With these two amazing gifts, almost all my Fabry symptoms have improved significantly. Those gains are multifarious and have bettered my quality…
Our family’s Fabry disease story started in the summer of 2019. I had driven a carload of teens from Dallas to my Cajun homeland for a youth camp, which was unexpectedly cut short because Hurricane Barry was poised to bear down. Frenzied, friendly camp staff helped us pack…
One evening in mid-2008, my wife, Angela, and I were watching television at home and saw an advertisement about Victory Junction, a camp in Randleman, North Carolina. The camp has a race car theme in honor of the late NASCAR driver Adam Petty and serves children with…
Fabry disease (FD) is a genetic condition caused by variants in the GLA gene. This gene instructs the body to produce the alpha-galactosidase A (alpha-Gal A) enzyme, which is necessary for the body to function properly. Low or absent alpha-Gal A enzyme activity can cause a toxic buildup…
When I think of awareness, I think of familiarity with Fabry disease. To me, spreading awareness means providing information and enticing people to learn enough about Fabry that they can recognize the signs in themselves or people they know. Being aware of the symptoms can lead to quicker diagnoses. Additional…
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