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.

Anthony

spontaneous mutation

My name is Anthony, and I was diagnosed with Fabry disease at 43 years old — but my symptoms began when I was about 7. As a child, I experienced intense burning in my hands and feet: heat and cold intolerance, and an inability to sweat normally. I had frequent gastrointestinal issues and often needed to stay close to a restroom at school. I couldn’t tolerate heat like other kids. I didn’t sweat normally, which meant gym class, warm classrooms, or summer activities could leave me feeling sick and exhausted.

School wasn’t just about learning — it was about surviving the day.

Teachers and coaches sometimes questioned my effort. Why couldn’t I push harder? Why did I need breaks? Why was I always uncomfortable? From the outside, I looked fine. On the inside, I was managing pain and symptoms I didn’t have words for. Instead of answers, I was often told it might be anxiety. Maybe it was in my head. In those days, if a doctor couldn’t see something, the assumption was psychological.

So I grew up wondering whether they might be right.

For decades, I lived with symptoms that were minimized, misunderstood, or dismissed — while Fabry disease, a progressive genetic disorder, continued affecting my body. When I was finally diagnosed at 43, I wasn’t devastated. I was ecstatic.

For the first time, there was validation. A name. Proof that what I had experienced since childhood was real.

Family screening followed, and we learned my case was a de novo mutation — a spontaneous genetic change. There was no family history to guide earlier detection. That makes awareness and early recognition even more critical.

Today, I participate in a clinical trial because research only moves forward when patients step forward. I want to advance better treatments, improve access to care, and ensure that children with these symptoms are recognized early — not told to try harder or see a psychiatrist.

No child should struggle silently through school because their body doesn’t regulate heat.

No patient should wait 36 years for validation.

And no rare disease should be dismissed simply because it’s rare.

Earlier diagnosis changes lives.

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.