More than 300 million people around the world are living with a rare disease. It is time to make rare diseases a global health priority and ensure that people living with rare diseases are not left behind in universal health coverage.
A girl with Rett syndrome, one of more than 7,000 rare diseases. Photo: Rare Diseases International
Have we been using the wrong words to talk about rare diseases? There are more than 7,000 documented rare diseases which, by definition, individually affect a small number of people. However, more than 300 million people around the world are living with a rare disease—about 3.6% of the world’s total population. Five percent of the population will be diagnosed with a rare condition during their lifetime.
In other words, persons living with rare diseases are few, but also many. These conditions are rare but they are also everywhere. Rare diseases are diverse, but persons living with rare diseases face common challenges which can only be addressed through common solutions.
It is time for health authorities and national governments to recognise that persons living with rare diseases make up a significant part of the world’s population—and to make rare diseases a global health priority.
For decades, the global community of persons living with rare diseases and their families has been working alongside researchers, clinicians, and other allies to bring about advances in health policy, healthcare, and scientific innovation. The goal is to improve the awareness, diagnosis, treatment, and care of rare conditions.
While progress has been steady, it has also been inconsistent and unequal. To improve sustainable health equity for the rare disease community, particularly for persons living with rare diseases in low- and middle-income countries (LMICs), we need action at the global level. Today’s policymakers are rightly focused on strengthening healthcare systems and highlighting the vital importance of primary healthcare. To achieve true health for all, we must ensure that persons living with rare diseases are not left behind. This can be achieved by adopting a transversal approach to integrating rare diseases into health and social care systems.
Rare Diseases International first called for a World Health Resolution on Rare Diseases in September 2023, seizing upon the political momentum generated at a multi-stakeholder side event at the UN High-Level Meeting in New York. In May 2024, following a side event organised by Rare Diseases International alongside the World Health Assembly, Egypt and Spain announced their sponsorship of a resolution entitled “Rare Diseases: A Global Health Priority for Equity and Inclusion.” Twenty-four other member states have announced their co-sponsorship of the resolution, including Qatar, Malaysia, France, Panama, Chile, the Philippines, Luxembourg, Brazil, Romania, and Jordan.
If successful, this resolution will build on important policy achievements, notably the 2021 UN Resolution on Addressing the Challenges of Persons Living with a Rare Disease, which was adopted by all UN Member States. While the UN Resolution was a significant achievement, the World Health Assembly (WHA) Resolution is an important and much-needed additional step forward towards health equity. The UN Resolution addresses all challenges faced by persons living with rare diseases; the WHA Resolution focuses specifically on health.
The primary proposed aim of the WHA Resolution on Rare Diseases is to call upon the World Health Organization (WHO) 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. Critically, it sets clear goals for member states, along with deadlines and actions for achieving them.
The strength of a common voice for rare diseases
In the current geopolitical climate, it is easy to be cynical about international cooperation. Yet now is not the time to shy away from bold global action. Rare diseases remain a significant unmet need in healthcare. As a result of limited health budgets, resources, and expertise, persons living with rare diseases across the globe continue to face unique challenges and widespread inequity in accessing appropriate care and support.
On average, it takes more than four years for a rare condition to be diagnosed, even in wealthy countries; and 95% of rare conditions have no approved treatment. 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. The financial burden faced by persons living with rare diseases and their families as the result of high out-of-pocket medical expenses, rehabilitation and equipment costs, and lost wages is substantial, and can be catastrophic.
Global challenges need a global solution. That is why Rare Diseases International has joined together with over 230 other civil society organisations, hospitals, and academic institutions to form a coalition in support of the WHA Resolution on Rare Diseases. This coalition is calling upon the WHO to develop a Global Action Plan to enhance visibility, equity, and agency for persons living with rare diseases by addressing global disparities in access to diagnosis, care, support, treatment, and research.
A Global Action Plan on Rare Diseases is urgently needed to create a pivotal platform for collective action through a collaborative and multisectoral approach. It will provide governments with a tangible framework for action, with clear targets and accountability measures to reach the Global Health 2035 Goals—and it will help make universal health coverage a reality.
Now is the time to cement rare diseases as a priority on the global health agenda and ensure more equitable access to recognition, patient-centred diagnosis, care, support, research, and development of therapies for rare diseases. By working together as a global community, we can shift the paradigm on rare diseases and ensure that universal health coverage truly leaves no one behind.
The opinions expressed are those of the author and do not necessarily reflect the position of Re:solve Global Health.
Alexandra Heumber Perry is the Chief Executive Officer of Rare Diseases International, the global alliance of persons living with a rare disease. She has over 20 years of experience in global health and has dedicated her career to improving healthcare policies to benefit people living with diseases, with a particular focus on neglected and vulnerable populations.
Comments