One in 20 people will be affected by a rare disease during their lifetime. When considered together, rare diseases are not really rare at all.
While each individual rare disease is uncommon, together the 7,000+ identified rare diseases affect more than 300 million people worldwide. 70% of rare diseases begin in childhood, but other conditions, such as rare cancers and rare infectious diseases, can affect people of any age. 5% of the population will be affected by a rare condition at some point during their lives. In other words, when considered together, rare diseases are not really rare at all.
Working together for positive change
Over the past decades, advocates for individual rare diseases have discovered the power that comes from working together to make rare diseases a global health priority. In 2021, the United Nations (UN) adopted a resolution to address the challenges of persons living with a rare disease (PLWRD), providing a strong framework for improving the lives of PLWRD. Now, the rare disease community’s efforts have led to the creation of a coalition to advocate for the next step in shifting the paradigm on rare diseases: a World Health Assembly (WHA) resolution calling for a global action plan on rare diseases.
Today’s rare disease landscape is full of hope. Significant research and development investment in rare diseases has led to unprecedented breakthroughs in treatments and therapies.
However, this investment and any subsequent implementation are inconsistent and unequal across the globe. As a result, PLWRD worldwide continue to face significant challenges. Clinical experts on rare diseases are often few and geographically dispersed, and there are insufficient knowledge-sharing platforms allowing non-specialists to consult with these experts on patient care. PLWRD and their families face high out-of-pocket expenses and lost wages related to their conditions. Further, the shortage of financial incentives to develop drugs for the small and dispersed populations of PLWRD means that more than 95% of rare diseases do not currently have an approved treatment.
A global action plan
Global challenges need a global response. That is why Egypt and Spain are sponsoring a resolution entitled “Rare Diseases: A Priority for Global Health Equity and Inclusion” at the WHA in 2025, with co-sponsorship from Qatar, Malaysia, France, Panama, Chile, the Philippines, Kuwait, and Palestine. This resolution is supported by a broad coalition of rare disease organizations, including Rare Diseases International (RDI)’s 116 member organizations located across 50 countries.
The primary proposed aim of the WHA resolution is to call upon the World Health Organization to develop a comprehensive Global Action Plan on Rare Diseases (GAPRD), which would provide member states with a tangible framework for action and a clear, detailed roadmap. It would establish global targets and strategic goals, along with specific actions to achieve them. GAPRD would be a tool for raising funds and aligning existing financial resources, policies, and efforts to ensure more efficient and equitable outcomes. Further, it would establish a robust process for accountability and monitoring to track implementation progress.
A crucial next step
If successful, the WHA resolution will build on important policy achievements to provide a strong framework for improving the lives of PLWRD globally. It will be the catalyst that urges member states to work together to enhance policy, accelerate research and innovation, and improve access to care for PLWRD.
Now is the time to shift the paradigm on rare diseases by adopting long-term, coordinated, and sustainable solutions. The WHA resolution and the development and implementation of the GAPRD represent a unique opportunity for the rare disease community and all stakeholders in the global health ecosystem to join together to improve the lives of PLWRD worldwide.
