Rare Diseases, Real Impact: Why Awareness and Action Matter

On February 28, take a moment to think about rare diseases. A disease is considered rare when it affects fewer than 1 in 2,000 people. Consider that 300 million people globally have a rare disease, and that impact spirals out from them. Rare diseases affect family members, caregivers, and their community. “It takes a village” is a well-worn phrase, for good reason.

One of the greatest challenges of living with a rare disease is the lack of resources dedicated to treatment and cures—far fewer than those available for more common conditions. I witnessed this firsthand as Global President of Pfizer’s Rare Diseases business, where I had the honor to get to know, be inspired by, and learn from a number of people diagnosed with rare diseases. Their stories highlighted the urgent need for more awareness, innovative treatments, and better support.

I met Tiahna Hughes when she was 13 and it is heart-warming to see her growing up into a strong, young woman. When I met her, no sickle cell treatments, other than pain reduction using opioids existed. Not quite a decade later, there is now lentiviral gene therapy and a gene-editing therapy available, however, many other developments failed or were withdrawn from the market. As groundbreaking as these gene therapies are, their high costs, intensive resource demands, and limited accessibility limit their potential uptake.

More innovation and accessible treatments are needed for this rare and painful disease that can lower life expectancy by at least 20 years. At least 90% of those affected by sickle cell disease in the U.S. are Black, with another 3-9% who are Latino or Hispanic. These are communities that have a harder time on average getting medical care.

Redefining the Limits of Life with Friedreich’s Ataxia

While at Pfizer I also was privileged to meet Kyle Bryant, who was diagnosed with Friedreich’s ataxia as a teen. This degenerative genetic neuromuscular disorder affects about one in 50,000 people in the U.S., causing muscle weakness, scoliosis, loss of coordination and balance, and other symptoms. It can also shorten a person’s lifespan.

Kyle has been an amazing advocate for those with Friedreich’s ataxia, raising more than $11 million for disease research since 2007. Though Kyle uses a wheelchair, it has not kept him back from multiple long-distance bike rides, including a 2,500-mile ride with his father from San Diego to Memphis to raise money. Kyle is now a full-time spokesperson for Friedreich's Ataxia Research Alliance (FARA) and the director of rideATAXIA, which organizes fundraising rides nationally.

Until recently, there was no approved treatment for Friedrich’s ataxia. Now there is a single drug—Skyclarys (omaveloxolone)—which the FDA approved in 2023 and the European Medicines Agency approved in 2024. More options are needed for this disease, which is the most common form of hereditary ataxia in the U.S. But at least there is now a treatment.

There are thousands of stories like Tiahna and Kyle’s in the rare disease world. Progress and treatment development takes time and funds, but we can’t lose sight of the people who need our help.?

On February 28, Rare Disease Day, consider what you can do to move the ball forward. That might mean taking a moment to learn about one of the many rare conditions affecting 300 million people worldwide or simply offering support to someone living with one. You can take action by biking, volunteering, or donating to organizations like FARA that fund research and provide vital resources. You can also show appreciation for advocates like Tiahna and Kyle, whose courage in sharing their experiences helps shine a light on the challenges of living with a rare disease.

Lastly, my pharma industry friends, keep up the work. It’s needed. And it makes a difference.