More than 30 million Americans live with rare diseases, a significant and growing public health challenge, according to the National Organization for Rare Disorders (NORD). Despite this substantial number, fewer than 5 percent of the over 10,000 known rare diseases have an approved treatment, highlighting the urgent need for increased research, innovation, and supportive policies.
Rare Disease Day, observed annually on February 28th, serves as a focal point for raising awareness and mobilizing communities. This year, NORD is leading the charge with its “Show Your Stripes” campaign, encouraging individuals, organizations, and healthcare professionals to participate in a variety of activities designed to improve the lives of those affected by rare conditions.
The journey to diagnosis for individuals with rare diseases is often protracted, and arduous. Research indicates that families frequently spend five to seven years seeking an accurate diagnosis, navigating medical uncertainty, facing misdiagnoses, and grappling with financial and social burdens. This delay in diagnosis can significantly impact patient outcomes, underscoring the importance of increased awareness among healthcare providers.
The economic impact of rare diseases is also substantial. The National Center for Advancing Translational Sciences (NCATS) estimates that the annual direct medical costs associated with these conditions may reach $400 billion, rivaling those of more prevalent diseases like cancer, heart failure, and Alzheimer’s disease.
To address the critical gap in healthcare professional knowledge, NORD has launched the “Earn Your Stripes: Rare Disease CME Challenge.” Running from through , this initiative encourages clinicians across specialties, including primary care and pediatrics, to complete continuing medical education (CME) courses focused on rare diseases. The goal is to improve early identification, diagnosis, and management of these often-complex conditions.
“Primary-care physicians and pediatricians are often the first to see signs of rare disease, yet many receive limited training in recognizing them,” said Pamela Gavin, CEO of NORD. “Our CME Challenge gives providers practical tools that can make an immediate difference.”
The “Show Your Stripes” campaign draws inspiration from the medical adage, “When you hear hoofbeats, think horses, not zebras.” the zebra represents the rare disease patient – a case that may be overlooked or initially misdiagnosed. By embracing the zebra as a symbol, NORD aims to foster a greater understanding and acceptance of the challenges faced by individuals living with rare conditions.
Numerous avenues exist for participation in the “Show Your Stripes” campaign. Individuals can make a dedication on NORD’s “Faces of Rare” dedication wall, honoring someone living with a rare disease. Schools, workplaces, and communities are encouraged to utilize NORD-provided playbooks to organize awareness events. Individuals can also review the NORD State Report Card to assess their state’s policies related to rare disease care.
Healthcare professionals can contribute by participating in NORD’s “Earn Your Stripes: Rare Disease CME Challenge,” completing accredited courses to enhance their knowledge of rare disease diagnosis and treatment. Events are listed on NORD’s national event calendar, and individuals can nominate landmarks to “Light Up for Rare,” requesting that buildings and monuments illuminate in Rare Disease Day colors.
Social media also plays a crucial role in spreading awareness. NORD provides a social media toolkit to facilitate online engagement. Finally, direct support for the rare disease community can be provided through donations to advance research and patient support programs.
NORD’s Rare Disease Day efforts are supported by a range of sponsors, including Amgen, Sanofi, and Takeda at the Champion Level, and a Partner Level comprised of numerous pharmaceutical and specialty pharmacy companies. The organization, founded in , remains dedicated to improving the health and lives of those affected by rare diseases, working in partnership with over 350 disease-specific member patient organizations to drive progress in research, care, and policy.
A congressional briefing, “Patient Advocacy Driving Innovation for People Living with Rare Diseases,” will be held on at the Capitol Visitor Center in Washington, D.C., further highlighting the importance of patient advocacy and federal policy in advancing rare disease care.
