Rare diseases affect a substantial portion of the global population despite being individually uncommon. Collectively, an estimated 300 million people worldwide live with one of thousands of rare conditions, highlighting their significance as a public health concern. These diseases are often chronic, complex, and difficult to diagnose, and they disproportionately impact individuals in low- and middle-income countries where healthcare resources and awareness are limited.
Rare Disease Day, an international awareness-raising campaign coordinated by EURORDIS–Rare Diseases Europe in partnership with 77 national and regional alliances, continues to spotlight the urgent challenges faced by people living with rare conditions worldwide.
MedBound Times connected with Rhiannon Walls, Global Rare Disease Day Lead, to understand why diagnostic delays persist, what inequalities remain most pressing, and where advocacy is making a difference.
“Diagnostic delay remains one of the most persistent challenges for people living with rare diseases,” Walls says. “Rare diseases are individually uncommon and often complex, with symptoms that can resemble more common conditions. This frequently leads to years of uncertainty before a diagnosis is confirmed.”
She clarifies that as an awareness campaign, Rare Disease Day does not analyze international health system data. “This is why our campaign operates through a decentralized structure, coordinated by EURORDIS–Rare Diseases Europe in partnership with 77 national partners, and calls for equity, allowing local advocates to use Rare Disease Day as a powerful focal point to progress their own priorities.”
The decentralized model enables national alliances to tailor advocacy efforts based on local healthcare realities while aligning with the global call for equity.
Inequalities in rare disease care differ widely between regions. However, several common challenges consistently emerge.
“Inequalities vary widely between regions,” Walls notes. “Common challenges reported by our national partners include disparities in access to timely diagnosis, specialized care and treatments, financial burden, and social stigma and isolation.”
She adds that barriers extend beyond healthcare. “Barriers in education, employment, and wider social participation also remain significant.”
While gaps remain, advocacy efforts are producing measurable impact at both global and national levels.
“From the global perspective, we see year-on-year that advocacy makes a strong impact in bringing people together to achieve tangible change and increase visibility of our community,” Walls says.
Rare Disease Day supports advocacy through capacity-building webinars, downloadable resources, and an event-sharing platform. The campaign’s inaugural in-person event, Raising Youth Voices 2026, highlighted the role of young advocates in driving awareness and policy engagement.
At the national level, advocacy has contributed to the development of rare disease strategies, the establishment of specialized centers, and stronger patient involvement in decision-making processes.
As Rare Disease Day continues to unite stakeholders across borders, its central message remains clear: equity in diagnosis, care, and opportunity must become a global priority for the rare disease community.
References:
1. EURORDIS–Rare Diseases Europe. “Rare Disease Day 2026: More Than You Can Imagine.” EURORDIS – Rare Diseases Europe. Last modified February 2026. Accessed February 28, 2026. https://www.eurordis.org/rare-disease-day-2026-more-than-you-can-imagine/.
2. The Lancet Global Health. “The Landscape for Rare Diseases in 2024.” The Lancet Global Health 12, no. 3 (March 2024): e341. https://doi.org/10.1016/S2214-109X(24)00056-1.