Beauty in Being Rare

My name is Gabbi Lewis, and I live with Classical Homocystinuria (HCU).

My journey with HCU began before I was born. My older brother was diagnosed through newborn screening, which prompted doctors to test me in utero—making me what we believe is the first baby diagnosed with HCU via amniocentesis. Thanks to this early detection, I was able to begin treatment immediately, but that didn’t spare me from the harsh realities of life with this rare metabolic disorder.

Classical HCU is a condition in which my liver has a defective enzyme that is supposed to break down methionine. Instead, it builds up and turns into homocysteine, which is extremely toxic to your body. These elevated levels can result in blood clots, strokes, and other life-threatening complications. It is also a multisystem disease that affects everything from your skeletal system to your nervous system. To manage this, I follow an extremely restrictive low-protein diet—only about 10 grams of whole protein per day—alongside a methionine-free formula, the medication called betaine, and a cocktail of vitamins and supplements.

From an early age, I lived what felt like two lives: one where I tried to appear “normal,” and one where medical routines, dietary limitations, and hospital visits consumed me. I had to worry about things no child should have to worry about, and often missed out on class birthday parties, field trips, and social events because there was nothing safe for me to eat. I spent my young life worrying about a catastrophic medical event happening to me, all while my peers were worried about their first day of elementary school.

When I was eight, I was diagnosed with scoliosis and put into a restrictive back brace. The brace, though necessary, made taking my formula nearly impossible, forcing me to choose between spinal correction and essential nutrition. I often opted for the latter due to the severity of the consequences associated with HCU. As I entered middle school, osteoporosis added more layers to my diagnosis. I stopped contact sports and felt increasingly isolated from my peers—no one around me could truly understand what I was going through.

The summer before high school, I underwent spinal fusion surgery, a complex and risky procedure due to my condition. I spent eight days in the ICU, consuming zero grams of protein and having a feeding tube placed due to high homocysteine levels. Recovery was painful and long; I had to relearn how to walk, climb stairs, and function as a young teen.

When the pain didn’t subside after the first year, we discovered I was allergic to the metal in my spine, had a crushed disc, and had a screw shift to be one millimeter away from my Aorta. I faced the agonizing decision to redo the surgery. As an 18-year-old, I underwent another spinal fusion, where they removed my current fusion, extended it to span my entire spine, and put in new metal. This meant spending another eight days in the ICU, reading my college acceptance letters bedridden, and missing most of my senior year.

College brought more challenges. Dining accommodations were limited, forcing me into a cycle of eating alone or choosing unsafe food just to get by. Even in a setting that promised support, I often found myself misunderstood and overlooked. Still, I pushed through. I moved into a dorm with a kitchen, started cooking for myself, and, despite all the challenges, graduated with high honors and awards for my senior thesis on how social media impacts the rare disease community.

Now, at 23, I work full-time in marketing and serve as the Marketing Manager for HCU Network America. I also partner with biotech companies advocating for patient-centered care and am working to ensure the lived experiences of people like me are considered in healthcare and drug development. With aspirations to work in biotech, I look forward to taking everything I have learned in community engagement, advocacy, and marketing to improve the lives of patients. While I live with multiple chronic conditions beyond HCU, including POTS and Ulcerative Colitis, I lead with determination and a desire to create change.

Living with HCU impacts every part of my day—every meal, every outing, every plan. I wake up each day planning my food backwards, making decisions based not on desire but necessity. It affects my social life, my career, and even how I dream about the future. There’s so little data on adults aging with HCU, and I often fear the unknown—What will my health look like in five or ten years? Will I be able to have the life I envision?

But alongside the fear, there is hope. My life, though filled with complications, has also been filled with purpose. I’ve spoken at FDA meetings, international biotech conventions, medical conferences, and even on Capitol Hill. I’ve shared my art, my story, and my truth—because for every kid newly diagnosed, I want to be proof that you can live a life filled with meaning, creativity, and connection, even in the face of adversity.

Being rare is undeniably difficult—but it’s also powerful, purposeful, and worth embracing. Above all, I’m driven to help build a future where every child growing up with a rare disease feels seen, supported, and unstoppable.