Living With Rare Disease

Why listening, consistency, and compassion matter as much as treatment for families living with rare disease.

Aisha's mother knows the signs before anyone else does. The way Aisha grows quiet. The way she holds her arm close to her body. The subtle shift that means pain is coming. By the time they reach the emergency department, Aisha's pain is severe. Her mother begins explaining, again, what sickle cell pain feels like, what medications have worked before, why waiting makes things worse. She has had this conversation with medical personnel many times.

While rare diseases, by definition, each affect a very small number of people, collectively they are actually fairly common, with over 6,000 rare diseases represented in 300 million people worldwide. The theme for Rare Disease Day 2026 is more than you can imagine, which highlights the strength, resilience, and vast, often underestimated, numbers of people living with these diseases. It emphasizes the urgent need for equitable access to diagnosis, treatment, care, and social support. 

For families living with rare diseases, Aisha's experience is all too familiar.

Rare Disease Month is about raising awareness, but for families, awareness alone often isn't enough. Every day, they navigate uncertainty, complex medical systems, and the emotional weight of conditions that many healthcare providers may rarely encounter and know little about. Because of this, families often face delayed diagnoses, limited treatment options, and healthcare experiences shaped by misunderstanding or disbelief. Behind every diagnosis is a child learning how to grow up alongside medical challenges, and parents learning how to advocate in spaces where they may feel unseen. As a genetic counselor, I have met families at some of their most vulnerable moments. One lesson comes up again and again: being heard matters as much as being treated. 

Aisha's condition, sickle cell disease, is one of the most common genetic conditions included in the rare disease category, with about 100,000 affected people in the U.S. It largely affects those of African and Mediterranean descent, as being a carrier of sickle cell (unaffected but able to pass it on to a child) provides resistance to malaria, and is therefore far more common in areas of the world where malaria is endemic or those who descend from them. Pain episodes can appear suddenly and become severe very quickly. Yet many patients and families describe needing to explain or defend their pain before receiving care. This is exacerbated by our country's history of medical and scientific racism, in which pseudoscientific theories regarding biological differences between races have been used to justify unequal care and racial inferiority. This is beyond the scope of what we're talking about here, but is a fascinating topic to address another day. As you can imagine, this history has created fear and mistrust of the medical community, which for some turns necessary medical visits into sources of anxiety.

Because families living with sickle cell disease frequently describe feeling that their pain is underestimated or questioned, listening without judgment and validating lived experiences can build trust, which improves care. In my work, I have seen how powerful it can be when a clinician simply says, "I hear you."

Rare Disease Month reminds us that awareness should lead to action.

If you are interested in reading a story about a baby with a rare disease and how the family learns about it and copes, please look to Brooke's Promise, a story about putting your life back together after learning your past is a lie, coping with heart-wrenching decisions and terrifying medical appointments, and a relentless race against time. It is a tale woven with crushed expectations, heartache, and redemption, in which the family discovers that sometimes, the only way to forge a path forward is to confront the shadows of the past. I wrote this with some of my genetic counseling patients in mind, inviting readers to experience the raw intensity of love, fear, and the extraordinary power of the human heart. It will have you contemplating the fragility of life and the enduring strength of the bonds that hold us together, even in the face of life's most challenging moments. Please see more information on me and my novels at janiceberliner.com.