Debra Bellon
Strategic Engagement Manager, Rare Diseases International
People living with rare diseases face challenges accessing diagnosis, treatment and care. A new World Health Assembly (WHA) resolution offers hope — but action must follow.
“This is our reality — a constant roller coaster ride.” That’s how Ida Fransson and Mats Jansson of Sweden describe the experience of searching for answers for their two children, Edwin and Ellie, who live with a condition that is still undiagnosed, even after extensive genetic testing.
Ongoing barriers for people living with a rare disease
“Without a diagnosis, you’re ping-ponged around the system, searching for what might be wrong with you or your child,” echoes UK-based Kirsten Johnson, Chair of Rare Diseases International (RDI).
It takes an average of six years for a rare condition to be diagnosed. Even after diagnosis, the 350 million Persons Living with a Rare Disease (PLWRD) around the world face significant challenges: 95% of rare conditions have no approved treatment, and those that do exist are often expensive and hard to access.1
Chantelle Hall of South Africa knows the challenges of accessing treatment firsthand. Her son Freddie lives with achondroplasia, a form of dwarfism. A new treatment shows promise in improving bone growth, but only for those who can access it. “While one child gets treatment early, another just miles away might never get the chance,” she says. “Achondroplasia doesn’t define someone, but access to care can define their future.”
To create real impact, governments
must provide sufficient, sustainable
resources for rare conditions.
An important milestone: the WHA Resolution on Rare Diseases
In May, the World Health Assembly adopted a landmark Resolution on Rare Diseases, sponsored by Egypt and Spain and co-sponsored by 39 other countries: a major step toward equity for PLWRD. It recognises rare conditions as a global health priority and calls on the WHO to create a 10-year Global Action Plan on Rare Diseases. It also urges Member States to improve the diagnosis, treatment, care and awareness of rare conditions.
What comes next?
The resolution is just the beginning. To create real impact, governments must provide sufficient, sustainable resources for rare conditions and collaborate with communities, non-governmental organisations and other relevant stakeholders.
As the global alliance of rare disease organisations, RDI plays an important role in ensuring that PLWRD around the world are actively engaged in implementing the resolution. RDI supports PLWRD with the tools and resources they need to engage with their national governments and the WHO while amplifying their voices on the global stage.
The resolution must be more than a global framework imposed from above. Real progress requires a collective, ground-up effort to build inclusive health systems that recognise and serve everyone, everywhere — no matter how rare their condition.
[1] The landscape for rare diseases in 2024. The Lancet Global Health, Volume 12, Issue 3, e341. doi.org/10.1016/S2214-109X(24)00056-1.
