Reflections From The Boston Globe’s Rare Disease Summit

Earlier this week, I had the honor of attending The Boston Globe’s second annual Rare Disease Summit. Despite a blizzard blanketing the region, the Globe’s staff and conference organizers pulled off an inspiring and educational event — kudos to them for making it happen virtually!

I attended both as a PR professional working in biotech and pharma and as someone with a personal connection to rare disease and the medical field. I previously worked as a Clinical Research Coordinator at the Sean M. Healey & AMG Center for ALS at Massachusetts General Hospital, and my mom passed away from amyotrophic lateral sclerosis (ALS), a neurodegenerative disease that currently has no cure, when I was in college. The Summit brought together medical professionals, patients, researchers, government officials, and parents and left me with three themes worth sharing.

Think Zebras, Not Just Horses

The conference opened with pushback on a well-known medical aphorism coined by Dr. Theodore Woodward in the 1940s: “When you hear hooves, think horses, not zebras.” The saying teaches clinicians to diagnose based on the most common, likely cause rather than a rare one. It makes sense as a heuristic, but it has its limits.  

While individual rare diseases are uncommon, they are collectively anything but. More than 30 million people in the U.S. (approximately 1 in 10 people) (source), and at least 300 million people globally live with a rare disease (source). That number grows even larger when you consider the family members and loved ones affected alongside them. Rare diseases deserve a place in the diagnostic conversation from the start.

Lived Experience Is Expertise

A recurring theme throughout the summit was the concept of lived experience and the call to treat it as a legitimate form of expertise, not just anecdote. Speaker after speaker, particularly those living with rare diseases, spoke to the ways their daily realities contain knowledge that clinical data alone cannot capture.

This connects to a concept I encountered in a medical ethics class in college: epistemic privilege — the idea that a person’s history and social position can give them access to aspects of reality that others miss. For rare disease patients who have spent years navigating misdiagnoses, limited treatment options, and systems not built with them in mind, that knowledge is hard-won. It belongs in the room.

Shared Decision-Making as Standard of Care

Shared decision-making, a collaborative process where providers and patients work together using the best available medical evidence alongside the patient’s personal values and goals, was another central focus of the summit.

Dr. Jennifer Arnold, a physician, patient, and mother living with skeletal dysplasia, put it plainly: the medical field needs more education around working with patients, and that starts with humility. Doctors willing to say something like, “I may not have all the answers, but I will work through this with you,” offer something meaningful to patients who have often felt dismissed. That kind of partnership is not a soft skill. It is good medicine.

Keeping the Patient at the Center

The summit was a good reminder that keeping the patient at the center of care is not a passive commitment. Rare Disease Day is Feb. 28, and this conference was one day, but the work does not stop there. Patients and families are living this every single day.

I’ll end with a quote from patient advocate Valeen Keefer, who was diagnosed with polycystic kidney disease at age 10, a condition that has spanned six generations of her family. Her words resonated with me:

“Rare disease doesn’t just live in the body. It lives in the in-between moments — between lab draws and life milestones, and in the quiet burdens of uncertainty, isolation, guilt and side effects. These realities don’t always show up in clinical trial endpoints or medical appointments, yet they shape every day of our lives. We are in an extraordinary time of scientific advancement, but breakthroughs become meaningful when patients are included early, often, and authentically. Not as a checkbox, but as partners. When the patient perspective shapes research and development, we ask better questions, design better solutions and measure outcomes that actually matter.”

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