When asked about the emotions they felt when they were diagnosed, many members of the rare disease community recall a sense of loneliness. Many of us turn to advocacy group conferences, specialist medical centers, or even social media to try to find a community of others with the same diagnosis who can understand our experiences. However, for many people living with Fabry disease, we often only need to look within our own homes. My younger sisters and I were all diagnosed with the condition when we were 16, joining my father, grandmother, three uncles, aunt, and several cousins in the Fabry community.
My diagnosis wasn’t a surprise, but it was certainly unwelcome news. Fabry disease is a rare genetic lysosomal storage disorder that leads up to the buildup of certain fats in the body that can impact all parts of the body including the heart, kidney, and brain. The condition causes a wide range of symptoms, including chronic pain, fatigue, digestive issues, heat and cold intolerance, hearing loss, sensitivity to noise, and progressive organ damage. It often leads to life-threatening complications, including organ failure, heart attacks and strokes, and is associated with a reduced life expectancy. Early diagnosis is critical, but Fabry is often misdiagnosed as many symptoms are similar to a range of other conditions.
When I was diagnosed, there were no treatment options available for Fabry disease. I concluded that I likely wouldn’t live past 40—after all, my uncles passed away when they were in their 30s and early 40s and my father lived to age 51. It was devastating and disheartening to watch my family members suffer from the effects of the condition, but I am grateful for the lessons I learned from them about coping with this relentless disorder.
I credit my father for instilling in me the ability to persevere and a sense of self-discipline. Fabry disease has often made life more complicated, but these traits have helped me prevent the disease from fully taking over my life. Growing up in the cold winters and hot, humid summers of Wisconsin and South Dakota was difficult because Fabry disease makes me become physically ill when exposed to extreme temperatures. It was nearly impossible for me to play sports or run around with my friends because I cannot sweat. When I turned 18, I made the first of several difficult decisions to improve my quality of life by leaving my childhood home to move to California, where a milder climate would allow me to be more physically active.
Fabry disease also threatened my ability to create the family I always envisioned having. The condition is an X-linked disorder, meaning that any sons I had would definitely have Fabry disease and any of my daughters would have a 50% chance of having it. After seeing my father and other family members experience the impact of the disease, I decided that I would not pursue having biological children so that I wouldn’t risk passing the condition to them. While it was a challenging decision to make and cope with, I chose not to let Fabry disease prevent me from enjoying the life I dreamed of, and adopted my son because I did not want to risk having a biological child who might also suffer from Fabry disease (note: Today, working with a genetic counselor for “PGT-M preimplantation genetic testing for mutation” can be used to identify an embryo that does not carry the mutated gene).
One of the most important pieces of advice I can offer those living with Fabry disease or other rare and chronic conditions is to find a medical team that one is able to connect with and is knowledgeable about the condition. I have learned about the importance of working with trusted specialists who can work with you to find a treatment and/or symptom management plan that best fits your needs and lifestyle. When my father, grandmother, uncles and aunt were alive, there were no treatments available for Fabry disease. I feel extremely lucky to have a geneticist, cardiologist and endocrinologist that I can work with to discuss the treatment options that would best address my symptoms while also allowing me to be able to continue building my career and stay physically active.
Life with Fabry disease today looks very different from what my father and other family members experienced during their lifetimes. Increased awareness of the condition, combined with improved tools for symptom management and most importantly, the availability of approved treatments have given hope and quality time to those of us living with Fabry disease. However, there are still needs in our community that must be addressed. Building further awareness of Fabry disease can help others with the condition who are undiagnosed seek the testing and care they need, as well as inspire additional research into treatment options that could improve the lives of all members of our community. I hope that by sharing my experience and lessons learned, I am able to leave a positive legacy in the Fabry disease community.
Original author Linda Quaranta is a licensed marriage and family therapist, as well as a certified Eye Movement Desensitization & Reprocessing (EMDR) therapist. She was diagnosed with Fabry disease at age 16 and now advocates for others impacted by the condition, including many of her immediate and extended family members. She has been a guest speaker at several Fabry disease support conferences, women’s summits and patient advocacy meetings. She currently resides in Yorba Linda, California.
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