In honor of the 13th anniversary of Rare Disease Day, celebrated annually on the last day of February, I spoke with Flaminia Macchia, Executive Director of Rare Diseases International (RDI) at the time of this interview, about leveraging global policies and frameworks to support improvements in the rare disease space and the direction these efforts will take in the coming years. 

Interview with Flaminia Macchia

What is the policy framework contributing to improvements in the lives of persons living with rare diseases?

Three levels of action create the right framework to support improvement in the lives of persons with rare diseases (PLWRD):

• At the country level, national plans or strategies that support and invest in rare diseases have the most direct impact on the lives of PLWRD. Action at the national level results in reshaping of healthcare systems and increased access for PLWRD to healthcare and social services, medicines and treatments, etc. Government support usually results from rare disease community advocacy and RDI works to empower national-level organizations to be a voice for their communities. 

• At the regional level, policies such as the European regulation on orphan medicinal products and the EU directive on patients’ rights to cross-border healthcare, encourage research and collaboration on a multinational scale, which further encourages action at the country level.  RDI works closely with regional organizations such as EURORDIS in Europe, APARDO in Asia Pacific, and ALIBER in Latin America; these organizations actively work to strengthen the voice of the rare disease community by representing a common voice across the region.  

• At the international level, governments make commitments toward a common goal, which shapes the global environment in support of the other levels of policy action. For example, rare diseases are specifically mentioned as an area of focus in the UN Political Declaration on Universal Health Coverage, particularly with the aim of leaving no one behind. This declaration then provides the global framework for countries to adopt national policies and measures to reflect this political commitment and positively impact the lives of PLWRD.

How has the rare disease community leveraged international commitments to support PLWRD? 

RDI and its community members have been working to contextualize and leverage two key international-level frameworks to advance the efforts of the rare disease community. 

Universal Health Coverage (UHC) is a powerful political commitment that advances the recognition of PLWRD as a vulnerable population that needs the focus of specialized policies at the national level.  Three elements make up UHC:

• More persons covered; within the rare disease context, this means more persons living with rare diseases covered

• More services covered; this means more therapies for rare diseases covered and access to complementary health services for PLWRD

• Less out of pocket payment by patients and their families

One of the key characteristics of rare diseases is that everything around them is rare – few patients; little research; limited expertise, knowledge, and understanding; and a scarce number of experts and specialists. The first step toward universality of coverage and care is to connect expertise and pool existing knowledge for the benefit of all PLWRD.  

For this reason, the World Health Organization is working in partnership with the rare disease community to develop a model for a network of expertise at the global level where specialists and centers can collaborate to make existing knowledge and expertise more accessible to PLWRD no matter where they live.

Sustainable development goals (SDGs) are another important international commitment that can be leveraged to support the holistic wellbeing of PLWRD.  Relevant SDGs include: no poverty (#1), families of PLWRD tend to experience aggravated impoverishment across the world due to burden of care, lack of appropriate coverage, etc.; good health and wellbeing (#3), can be built on to address specific health challenges of PLWRDs; quality education (#4), children with rare diseases experience exclusion in education; gender equality (#5), women often carry the burden of the family as the primary caregiver and experience stigma in some cultures for bearing a child with a rare disease; decent work and economic growth (#8), includes access to employment for PLWRDs; and reduced inequalities (#10). 

UN Member States have committed to reaching these goals to ensure sustainable development worldwide, which provides a framework for patient populations to act and build on to support their local needs.

What trends can we expect to see in rare disease advocacy?

Much has been done, but much more remains to be done. Our work will not be finished until everyone has access to diagnosis, services of all kind (health and social), up to advanced and curative therapies.  The Rare 2030 project, financed by the European Commission, underlined the need for increased collaboration at global level because we will not have been successful until conditions are improved for everyone, everywhere – including the most vulnerable among the vulnerable – leaving no one behind.  

The next objective of the community is to have rare diseases recognized as a human rights issue, not just a health issue, as a rare disease impacts every aspect of a person’s life. The recent COVID pandemic has unveiled all the pre-existing inequalities that PLWRD face. The pandemic has provided an opportunity to build back and reshape our healthcare systems in a better way and we need to act now so that the rare disease community is not left behind once again. 

If interested in participating in this movement, please join us on March 4 for the launch of the campaign toward the adoption of a UN General Assembly resolution on PLWRD and their families.  

About the interviewee

Flaminia Macchia was the Executive Director of Rare Diseases International (RDI) at the time of this interview. RDI is a network of over 76 member organisations representing rare disease patient groups, covering over 100 countries worldwide.  RDI has been a key driving force of rare disease efforts at the international level.  The group advocates to make rare diseases an international policy priority, represents its members on international platforms, and helps members build their capacity to act locally, regionally and globally.