fabry stories
Allen
Classic Male
I have lived with Fabry disease since childhood, though for many years no one knew what was causing my symptoms. As a child, any illness triggered severe burning neuropathy that left me in constant pain, along with swelling in my hands and feet, and repeated hospitalizations that ended with no clear diagnosis. At 17, doctors discovered an inactive pituitary gland, and while hormone treatment helped me grow, it did nothing to relieve my ongoing pain and illness. As an adult, my symptoms fluctuated, and years of testing still failed to provide answers—until dangerously high blood pressure led to a kidney biopsy and a Fabry disease diagnosis. Finally having a name for my condition brought relief and validation, but my kidneys continued to fail, and I eventually needed a transplant, made possible by my sister. Today, Fabry continues to affect my heart, hearing, and digestive system, and I experience severe pain crises with infections that are difficult to treat. Despite the challenges, my story reflects the long diagnostic journey many Fabry patients endure and the resilience required to live with a complex, systemic rare disease.
Alicia
Female Patient
I’m a wife and mother of four who first learned Fabry disease was in my family in 2007, even though I felt healthy at the time and set the diagnosis aside. Fourteen years later, a series of vivid dreams and a Fabry disease commercial pushed me to seek answers, and I learned that both my children and I had Fabry. While the news was devastating, I came to understand it as a message from my late grandfather, urging me to pay attention, take action, and protect my family’s future. A pivotal moment came when I helped save my boss during a stroke, which deepened my determination to understand Fabry, recognize its risks, and prioritize my health. Through research, I finally connected lifelong symptoms—heat intolerance, fatigue, chronic pain, migraines, gastrointestinal issues, and fainting—to my diagnosis. After starting treatment, my body began to adapt, allowing me to better manage heat, avoid passing out, and reclaim activities I once had to give up, including full days with my family at amusement parks. Today, I live with Fabry disease, advocate for myself and my family, and use my voice to encourage others to listen to their bodies, seek answers, and never ignore what their story is trying to tell them.
Your Story. Our Strength.
Your story matters. It has the power to bring hope, understanding, and connection to others living with Fabry disease. We encourage members of the Fabry community to share their personal experiences, challenges, and victories with friends, neighbors, and coworkers. By telling your story, you help raise awareness, reduce isolation, and remind other patients and caregivers that they are not alone on this journey. Together, our voices strengthen the Fabry community and help shape a future rooted in compassion, advocacy, and progress.
