Rare Disease Day spotlights the millions of patients who are collectively impacted by conditions that individually affect small populations. Occurring on February 28, the observance is recognized by hundreds of organizations to support clinician awareness, patient advocacy and equitable access.
Along with awareness of these conditions and their impacts on families and communities, Rare Disease Day invites reflection on the sobering truth that just 5% of rare diseases have FDA-approved treatments. Patient advocates say better policy design could shift those odds.
Disproportionately Impacting Children
Three hundred million people worldwide live with a rare disease, and half of them are children. Genetic disorders make up three-quarters of the nearly 7,000 rare diseases identified so far, and these disorders often show up in early childhood.
Progress is being made to shorten the diagnostic journey for children. Most newborns in the United States will be screened for two additional rare conditions beginning in 2026, which is more urgent than ever now that disease-slowing treatments are available. Adding more screenings and treatments in the coming years is a crucial goal of rare disease research.
Beyond diagnosis, investigating treatments for pediatric rare diseases can be costly, time-intensive and burdensome. However, in a win for the rare disease community, Congress recently reauthorized the Rare Pediatric Disease Priority Review Voucher Program which has incentivized investment and research in the discovery of treatments for children living with rare diseases.
A Future of Equitable, Quality Care
After a long and often frustrating search for diagnosis, those with rare diseases must begin another search for effective therapies. Most will only be able to manage symptoms, placing hope in the possibility of therapies and cures that may be years away.
As more treatments become available, pressure will shift from clinical research to patient journeys. Access to the right treatment at the right time – without delays in diagnosis or financial barriers – could shift the health outlook not just for millions of individual patients, but for the population as a whole.
