Rare Disease Day 2023: Empowering Community Advocacy And Innovation

The time has come to make rare diseases a national public health imperative

For decades, the rare disease community has been striving for greater recognition and scientific breakthroughs addressing the unmet medical needs millions of Americans face every day.

And with Rare Disease Day 2023 serving as a milestone to acknowledge the critical role of patient advocates in delivering new hope to people with rare diseases and their loved ones, the time has come to make rare diseases a national public health priority and create lasting progress.

Rare diseases are neither new nor infrequent, and the advocacy surrounding them has a long-standing record of public policy success, most notably marked by the passage and implementation of the Orphan Drug Act of 1983. With its 40th anniversary observed this year, this milestone piece of public health legislation has hastened the development of desperately needed rare disease treatments. Since signed into law, the number of designated “orphan” drugs for rare diseases has increased more than fourfold, providing hope for many people suffering from rare diseases and their loved ones where there previously was none.

Despite this progress, the stress placed upon the health care system in recent years – exacerbated by the pandemic, inconsistent funding and coordinated support for research – has at times yielded an uncertain future for innovation. Rare Disease Day, held annually on Feb. 28 and the leap day every four years, is the signature patient-led initiative at the heart and soul of annual efforts to spotlight rare diseases as one of the great public health challenges. Since its creation, the movement has played a critical role in building an international rare disease community that is multi-disease, global and diverse – but above all, united in purpose.

Even with strong and resilient advocates, the path to discovering life-altering treatments continues to be lonely, frustrating, and costly for the individuals and families affected. To bring new hope to the millions of Americans suffering from a rare disease much more must be done.

Rare Diseases, Not As Rare As They Seem

Sickle cell disease, cystic fibrosis, muscular dystrophy and hemophilia affect separate organ systems, and their symptoms can manifest in vastly different ways. But these four distinct diseases share one critical commonality: They are just a few of the more than 10,000 diseases classified by the National Institutes of Health (NIH) as “rare.”

According to the Centers for Disease Control and Prevention (CDC), a rare disease is a condition that affects fewer than 200,000 people in the U.S. Together, rare diseases affect 30 million people nationwide. Furthermore, 50 percent of all people living with a rare disease are children, and nearly three in 10 children diagnosed with a rare disease will regrettably die before age five.

People with rare diseases are also disproportionately affected by a prolonged delay between the onset of symptoms and the discovery of an accurate diagnosis. According to the research journal Genome Medicine, the average time for an accurate diagnosis of a rare disease is about 4-5 years. In some cases, however, diagnosis proves elusive for more than a decade. The inability to diagnose a rare disease early has the potential to lead to more severe complications of the illness or even death. It also poses an immense economic challenge for these families and the public health system as a whole.

According to a recent study from the EveryLife Foundation for Rare Diseases, the national economic impact from indirect and non-medical costs from a sample of just 379 rare diseases reached nearly $1 trillion in 2019. This astronomical figure surpasses the economic impact estimated for the costliest chronic diseases identified by the CDC, including diabetes, heart disease and cancer. Despite these numbers painting a dire picture and illustrating the urgent need for action, today, 95 percent of rare diseases lack an FDA-approved treatment.

Janet Woodcock, M.D., Principal Deputy Commissioner for the U.S. Food and Drug Administration (FDA), attributes this to the unique set of obstacles that come with research and development in this field.

“To meet the needs of a community forced to operate under a different paradigm and spur the development of new drugs…we have to do things differently, try new approaches, and use new and modern technologies to advance innovation,” Woodcock says.