Columns

The two clinical sites where our kids began their enzyme replacement therapy (ERT) for Fabry disease were staffed by top-notch nurses. My kids enjoyed snacks and entertainment while skilled hands worked IVs into their veins. Making the decision to do home infusions was a natural choice, however. The…

My twin sons, Anthony and Michael, were diagnosed with Fabry disease at age 17. Anthony’s condition was identified by a dermatologist here in Texas who saw the cluster of angiokeratomas, or bumps, in his belly button and how they were spread across his torso and the rest of…

My five kids are different in oh so many ways, which was abundantly clear from the varied responses when three of them were diagnosed with Fabry disease. Anthony, 21, was introspective and curious when he learned about Fabry four years ago. He sought to learn as much as possible…

“Be Kind” is a popular slogan on T-shirts and wall art today. It’s a good message, but how do you foster the ability? I propose that Fabry disease patients, their family members, and their caregivers have much to teach the general population about kindness. The complexity of life with…

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…