For most of my life — starting when I was eight years old — I lived with a deep burning pain in my hands that felt like holding hot coals. It made no sense to me then, because even though it felt like my hands were on fire, they were usually cold to the touch. Sometimes the pain would fade into a milder, steady pain, but then it would erupt at random and become debilitating, interrupting sports, video games and even simple chores with my dad. I pushed through it, but the uncertainty of what was going on slowly affected my confidence and mental health — and living without answers became a defining part of my childhood.
After spending years trying to understand what my body was telling me, I want to share my experience with Fabry disease — for anyone who may be going through something similar and does not yet have a name for it.
Growing Up with Invisible Pain
As I got older, the burning in my hands kept returning, usually once a week and often worsening with physical activity. I tried to keep doing the things I loved, like soccer, band practice and playing video games, but some days the pain just stopped me in my tracks. My friends and coaches could see when I was hurting, and their support helped ease the feeling of being an unreliable team player.
I learned to adapt by preparing for pain episodes — like by placing water bottles next to my bed. When the pain came, I took advice from my mom to take off my shirt to cool down, and then would lay on my bed and try controlling my breathing. This might have been really isolating, but my older brother also had similar symptoms, so we were able to share in the experience and offer each other support when it was most needed. We even noticed that storms or changes in weather could trigger the burning and would brace for it together.
Over the years I saw many doctors, and at one point I was even misdiagnosed. I did my best to explain what I felt, but the symptoms were so unusual that nothing seemed to fit. There were moments that stayed with me, like one night when I was 14 and the pain became so intense that nothing helped. I felt scared, frustrated and confused, and it pushed me to search even harder for answers.
Understanding My Condition for the First Time
Everything changed during my senior year of high school when a cousin reached out to share that he was experiencing symptoms almost identical to mine. He had come across information about Fabry disease, and for the first time, something finally matched what I had been feeling all those years. All of these described symptoms seemed to line up with my experience — right down to the genetic tie, which explained why my brother and cousin were also affected. That gave me the understanding I needed to seek out the right kind of medical help: I met with a geneticist, who was able to take a blood sample and perform testing to finally diagnose this condition that had impacted me for years.
After spending so long searching for answers, having a name for my symptoms brought relief, validation and a sense of direction. It explained the burning, the sweating and the stomach issues I had always chalked up to something else. For the first time, I felt understood. It also eased the fear that something unpredictable and unexplainable was happening inside my body.
Knowing what I was facing helped me understand myself in a new way. It gave me the confidence to move forward, ask questions and learn how to manage my health with purpose instead of guessing what might help. It was the turning point that allowed me to finally feel in control rather than overwhelmed.
Living With Fabry Today
Once I knew what I was living with and experiencing, managing my symptoms became easier over time. With support from my care team, the burning happens less often. This has allowed me to enjoy the things that make me feel like myself again, including dancing, camping and spending time outdoors. Staying active and getting fresh air helps to reset my mind and keep me grounded.
I also focus on simple habits that strengthen both my physical and mental health, like exercising, journaling and taking time to slow down, which help me handle flare-ups when they happen. Being open with friends, coworkers and family has made a difference too, because people understand what I am navigating instead of wondering why I seem quiet or distracted.
This novel understanding of my diagnosis helped me make sense of years of confusion and gave me the tools to move forward. I hope my story encourages others to keep pushing for answers and to seek out the resources that can help along the way.
To explore more about Fabry disease and find support that meets you where you are, visit CareConnect.
About the Author: Jorge, 27, lives in West Jordan, Utah. He was officially diagnosed with Fabry disease at age 18, after a decade-long journey marked by unexplained symptoms like burning hands, GI issues and excessive sweating. With his mother and brother also experiencing symptoms, Jorge deeply understands the heredity of Fabry disease. He is a passionate patient ambassador who advocates for proactive management, mental well-being and the importance of educating oneself and others about the condition. Balancing work and part-time college studies, Jorge enjoys an active life filled with dancing, sporting events and camping, embodying his belief, “You can’t go around challenges — you’ve got to work through them.” He is committed to sharing his story and insights with the wider community.
