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…
Chronic lower extremity edema is common among people with Fabry disease. This type of swelling occurs because of fluid buildup and may range from mild to pitting — when the swollen skin is pressed and an indentation remains. Before I began receiving intravenous enzyme replacement therapy (ERT)…
Picture this: I was soaking in the panorama of emerald mountain peaks framing the blue waters of Lake Amatitlán in Guatemala, where my friend and her groom were kicking off their wedding festivities with friends, food, and music. The event was exceptional, but I was feeling off. An unease had…
Since undergoing a heart transplant in September 2020, and after almost 23 years of enzyme replacement therapy to treat my Fabry disease, I have been enjoying relatively good health. My transplanted heart is in great shape. My kidney function has improved significantly. My lung function has returned to a…
In March, I was blessed to go on a mission with my 81-year-old mother, my 14-year-old daughter, Marisa, and two other moms and their girls. We arrived in the stunningly beautiful Costa Rica and spent a week in a small village nestled in the mountains, where we visited the homebound,…
Two friends and I recently left the warmth of Texas to brave the snow and freezing temperatures of Kansas, where the three of us have sons at Benedictine College. The campus hosts a mother-son (and father-daughter) event, with a cocktail hour, a fine dinner, and a dance. It was a…
My son Anthony, who’s a senior in college majoring in accounting, recently told me, “I would’ve chosen to go to medical school if I didn’t think I had a short life expectancy.” His words stopped me in my tracks. Anthony is one of my three children who are living…
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