The paradox of living with an invisible disease that others don’t understand
My symptoms don't always match people's expectations of what illness looks like
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For the first 28 years of my life, I played the part of an athlete, a straight-A student, and a fun, witty, and cute girl who thrived on being social. I knew how to blend in, run with the crowd, and make friends with ease. I never felt invisible.
But even though I appeared to be “normal,” I always felt different, both mentally and physically. I looked just like my friends and peers, but something felt off. There was a disconnect between how others saw me and how I experienced the world, though I didn’t yet have the words to explain it.
When I reflect on my adolescence, I’m struck by the fact that I seemed to be the only one who was covered in bruises the size of baseballs, with a belly that protruded far more than it should have, and exhaustion levels that were truly inexplicable. While my peers confidently showed off their toned stomachs, defined abs, and cute crop tops in preparation for summer, I was preoccupied with finding ways to hide the dark purple-and-blue marks scattered across my body.
Yet despite these obvious signs that something was wrong, my illness remained largely invisible because I looked “fine.” Then, in September 2010, I heard the words that would forever change how I understood myself: “You have a rare genetic disease called Gaucher disease.”
‘You don’t look sick’
The bruises I’d spent years hiding and the fatigue I’d blamed on school, sports, or staying out too late were no longer isolated things that made me feel different. They were connected. In an instant, the vague sense that something had always been different, the feeling I could never explain, and the physical traits that never quite made sense finally had a name.
Suddenly, my mind was filled with questions and concerns as I tried to navigate the unknowns of my future. What did this diagnosis really mean? What would my treatment look like? How would my life change?
I’m now 44, which means I’ve spent the last 16 years explaining my condition and answering questions about it. Over time, I’ve heard just about every response imaginable: “You don’t look sick.” “You seem fine.” “But you work out all the time!”
These responses have come from family, friends, and even doctors. I don’t “look sick” to this day. My condition remains largely invisible — I don’t use adaptive seating, assistive devices for mobility, or orthotics to support the stability or positioning of my lower extremities. From the outside, I often appear healthy, which can make it difficult for others to recognize the challenges I live with every day, such as the pain I endure, the fatigue I battle, or the countless hours questioning every single symptom I encounter.
That paradox is one of the most difficult things about living with a rare disease. The symptoms are real, disruptive, and often life-altering, but because they don’t always match people’s expectations of what illness looks like, they can be overlooked, minimized, or explained away. As a result, Gaucher disease has forced me to become an expert in a body that often looks perfectly healthy from the outside.
I’ve learned to recognize what my body needs, advocate for myself, navigate a healthcare system that doesn’t always see rare diseases that manifest as invisible, and keep moving forward even when I’m tired, hurting, or uncertain about what comes next.
I can’t make my disease disappear, but that doesn’t mean I can’t carry something invisible and still live a very visible and full life. I’m trying to accept that every day.
Note: Gaucher Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Gaucher Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Gaucher disease.
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