Clad in a sweaty helmet, shoulder pads, and practice gear, an 11-year-old football player pushes through the pain of cramping and burning feet. Hiding his tears, he doesn’t complain because he wants to be tough, play hard, and lead the team to victory. Would it have been a relief for…
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…
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…
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…
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…
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,…
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