On Rare Disease Day (February 28th), I want to share my story—not only to raise awareness, but to celebrate the resilience of those living with rare diseases as we advocate for access, equity in medical research and disability resources, and work to tear down barriers that were never ours to carry.

I live with Leber’s Congenital Amaurosis (LCA), a rare inherited retinal condition affecting approximately 2–3 per 100,000 births worldwide. Within that already small community, my specific genetic cause—RDH-12–associated LCA—is even more rare, accounting for only a small fraction of all LCA cases. Rarity within rarity has shaped nearly every chapter of my life.

At three years old, I was diagnosed with retinitis pigmentosa. It wasn’t until my teenage years that advances in genetics and specialist evaluation led to a corrected diagnosis of LCA. That gap—years of uncertainty, misdirection, and unanswered questions—reflects a reality many people with rare diseases know well. Limited research, evolving knowledge, and uneven medical training often mean delayed diagnoses, fewer resources, and long stretches of simply not knowing.

Living with a rare disease can be profoundly isolating. When your condition is uncommon, it is easy to feel invisible—even while being closely watched. You may never meet another person who shares your diagnosis. You may spend years searching for community, for language, for someone who understands not just the condition, but the experience of carrying it. Too often, rarity means navigating life alone.

That isolation is compounded by how people respond to disability. I have been underestimated and over-scrutinized—treated as fragile in some moments and suspect in others. My body has been medicalized rather than met with curiosity, respect, or simple acknowledgment of shared humanity. There is a quiet exhaustion that comes from constantly being explained, assessed, or reduced.

Becoming a mother added another layer. I was confronted—sometimes subtly, sometimes explicitly—with questions about whether I should have children, whether it was ethical to risk passing on my genes. My condition is incredibly rare, and yet the scrutiny was intense. We rarely interrogate parenthood this way for people with family histories of hypertension, diabetes, or depression. Those questions revealed less about genetics and more about how society values disabled lives.

Motherhood also deepened my relationship with my body. Making peace with a body that does not meet society’s narrow definition of wholeness is ongoing work. There is grief there—but also rage. Disability rage at assumptions made about my quality of life by people who do not know me. People who do not see my meaningful, fulfilling, and joyful existence. My life includes a rewarding career, a beautiful and supportive family, deep relationships, and the quiet, powerful joy that comes from transcending what others believe is impossible.

Over time, my relationship with LCA has evolved—from shame about what made me different, to acceptance, and eventually to celebration. Today, I recognize that this part of me is not something to overcome, but something that has shaped my capacity for empathy, persistence, and connection. As a physical therapist, it allows me to relate to patients in ways that cannot be taught in textbooks—through lived experience, adaptation, and trust in the body’s ability to find new paths.

I am many things. I am a mother. I am a wife. I am a distance runner. I am a physical therapist. I am an avid Florida State Seminoles fan. And I have LCA. These identities coexist—not in spite of one another, but together.

Living with a rare disease is often exhausting. I am asked many questions about my condition, yet there are still very few answers—despite seeking out and receiving care from some of the very best specialists available. The greatest barriers I face are not my vision loss itself, but systemic ableism, inequitable access to resources, and the limitations of a society that struggles to imagine a full, meaningful life outside its narrow definition of normal.

Every day, I walk—or rather, I run—an unknown and seldom-traveled road. I am deeply grateful for those who choose not to look away, who are willing to truly see me, and who lace up to travel this rare road alongside me.

On Rare Disease Day, may we continue to push for research, for access, for equity—and for a broader understanding of what it means to live a whole, valuable, and deeply human life.

Emily Townsend PT, DPT