Columns

Last in a series. Read part one and part two. In this three-part interview series, I am happy to share the candid, personal perspectives of my three children with Fabry disease. I’ve already spoken with Marisa, 13, and Michael, 21. This final installment offers a peek into…

Second in a series. Read part one here. When our family was learning about our Fabry disease mutation, we heard about the inactivation of X chromosomes (where the mutation is found) and how Fabry disease thus presents differently in every female. That’s proven true in the…

I haven’t read any medical literature indicating that Fabry disease weakens the immune system, but most post-transplant medications do. Many people with Fabry have organ failure and thus need kidney or heart transplants.   The antirejection medications we must take for the rest of our lives weaken our…

First in a series. “Do you have time to talk?” Chris’ ominous voice over the phone caught me off guard. “Yes,” I answered and quickly shut my bedroom door to keep my five noisy kids from interrupting. Chris is a physician assistant married to my sister, and on that summer…

My inspiration for writing about Fabry disease pain this month came from the graphic representation of pain shown below. Neuropathic pain is a common manifestation of Fabry that is studied and written about frequently, but this illustration is unique. It was shared with me by the pharmaceutical company…

I walk into the small Jazzercise studio, where I regularly enjoy breaking a sweat, moving to music, and sharing space with upbeat people. Fall decor is on the walls. A rustic sign reads, “It is not happy people who are thankful. It’s thankful people who are happy.” These words ring…

This week, I turned 69 years old. As a man with classic Fabry disease, I consider this achievement both significant and unexpected. I’m still getting used to the idea that living this long is possible for people like me, after believing that it wasn’t for most of my adult…

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…