When I received my diagnosis of Fabry disease, a rare genetic lysosomal storage disorder, at age 16, I was considered “lucky” because I was diagnosed relatively early. The disease has run in my family for several generations. My father, three uncles, aunt and numerous cousins have all struggled with the condition. My uncles all passed away in their 30s and 40s from complications related to Fabry disease and I watched my father cope with heart and kidney problems caused by the disorder before he passed away at age 51. For the last ten years of his life, he was bedridden after having a kidney transplant. When I received my Fabry disease, I was confident that I was only going to live to age 40. Now, at 64, I am celebrating that I have exceeded my own expectations.
For Fabry Disease, Early Diagnosis is Crucial
Fabry disease is a genetic disorder caused by a mutation that affects the enzyme alpha-gal A. This enzyme is responsible for breaking down a fatty substance called Gb3. When alpha-gal A doesn’t function properly, Gb3 accumulates in the body, potentially damaging nearly every organ. The condition manifests through a wide range of symptoms, including chronic pain, fatigue, digestive issues, and sensitivity to both heat and cold.
As the disease progresses, it can cause additional complications such as hearing loss, sensitivity to noise, and progressive organ damage. These issues can lead to life-threatening complications, including organ failure, heart attacks, and strokes. Many individuals with Fabry disease experience a reduced life expectancy due to these potentially severe complications. Early diagnosis is critical for treating Fabry disease, but since it has symptoms that are similar to a range of other conditions, the diagnosis process can be challenging. Many people with Fabry disease experience symptoms for months or years before being accurately diagnosed.
I experienced symptoms of Fabry disease long before I received my diagnosis. Growing up in Wisconsin and South Dakota, I endured humid summers and bitterly cold winters. Fortunately, my symptoms were considered relatively mild compared to those of other family members. My main challenges surrounded heat and cold intolerance, digestive issues, sensitivity to noise, and an inability to sweat. Extreme temperatures made me physically ill and my inability to sweat made it nearly impossible to participate in sports, though I still tried to maintain an active lifestyle as much as I could.
Adapting to Life with Fabry Disease
After receiving my Fabry disease diagnosis, I made a few lifestyle changes. At 18 years old, I made the difficult decision to move to California, which had a milder climate that could provide me with a better quality of life. Since Fabry is a genetic condition, I chose to adopt my son because I did not want to risk having a biological child that might also suffer from Fabry disease. The condition is an X-linked disorder, meaning that any sons I had would have the disease, and any of my daughters would have a 50% chance of having it.
For decades, I was able to live in self-described “denial” about my diagnosis. That all changed on my 52nd birthday, when I went hiking on a hot day near my home. I overheated, developed tachycardia (a racing heartbeat) and became lightheaded. In the years that followed, I was diagnosed with atrial fibrillation (AFib) and hypertrophic cardiomyopathy, which can lead to strokes and heart failure. These experiences were truly eye-opening for me and made me realize that I had to pay closer attention to how Fabry disease impacts me physically, emotionally and psychologically.
How Finding My Passion Allowed Me to Help Others with Rare Diseases
After graduating high school and moving to California, I was not ready to attend college right away. A college degree was not considered important in my family and nobody else in my family had gone to college. In my late 20s and early 30s, I became driven to find my purpose in life and wanted to help advocate for other people. I finished my bachelor’s degree when I was around 40, then went on and got my masters.
Since then, I have built a successful career as a licensed marriage and family therapist, as well as a certified Eye Movement Desensitization & Reprocessing (EMDR) therapist. EMDR therapy allows the brain to shift using bilateral stimulation rather than having someone re-live and tell their story. Fabry disease is progressive and while it presents challenges and a sense of uncertainty regarding my future, the ability to make a difference in others’ lives gives me such passion to forge forward for myself and others who are suffering. I have learned that my diagnosis does not have to define who I am.
I am now an active member of the Fabry disease patient community, having spoken at several support conferences and patient advocacy meetings. Through these experiences, I have learned to collaborate with members of the rare disease community who are interested in participating in clinical trials. By sharing my story, I hope to build awareness of Fabry disease and inspire further research into treatments that could improve the lives of everyone in our community.
