On the occasion of both Rare Disease Awareness Month in February and Rare Disease Day on February 28 we spoke with Anna Kole, Public Health Policy Director at EURORDIS – Rare Diseases Europe, which is the voice of rare disease patients in Europe. She is a public health professional with more than a decade of experience in the field of rare diseases, both in the US and Europe.
Note: The statements and opinions contained in the video and the podcast episode are solely those of the speaker.
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The key message for Rare Disease Day 2022 is “Share your colors!” What made you choose this year’s motto?
Rare diseases are individually rare. There are 6,000 of them, and they are very heterogeneous and, of course, each one having their own challenges. But what brings everyone together is the fact that they are misunderstood, often difficult to diagnose and really require coordination across countries both in Europe and across the globe in order to make any change. For that reason, patient advocates are really a key stakeholder in raising awareness around this cause as, for much time, it has not been recognized as a public health priority.
So, Rare Disease Day is really a wonderful opportunity to bring together patients living with a rare disease, their caregivers, but also any other stakeholders in the community. And the motto of sharing your colors is really emblematic of that need to bring together a community across the globe. People with rare diseases feel isolated. They feel misunderstood. They feel a lack of hope. And by sharing their colors, they’re really sharing their individual stories. They’re letting people know from a human point of view their daily struggles and really providing a network of individuals so that they can find a home.
After last year’s “Global Chain of Lights”, what are your plans for the upcoming Rare Disease Day and on how to involve those affected as well as the general public?
Yes, last year was a wonderful debut of the global chain of lights. This year we anticipate it to be an equal success, with hundreds of buildings being lit up across the globe, including very well-known landmarks like the Empire State Building or Niagara Falls, but also individual homes. And I think the importance of this chain of lights is really the fact that any individual can take part and very much, once again, feel part of a community to raise awareness around rare diseases by simply lighting up the colors of the campaign, so pink, blue, purple and green, and allowing any individual in society to ask the question: What are those lights in your house? What is a rare disease? How does this maybe even affect me and I don’t realize it? And, certainly, what can I do? It creates a visual identity. It’s almost like a flag for our community and can really make this 30 million people living in Europe and the 300 million people living with rare diseases all over the world much more visible than they are today.
How has Rare Disease Day and its related worldwide events changed since its inception in 2008, especially regarding its scope and the community?
When I joined EURORDIS just after the launch of the first Rare Disease Day, there was only a handful of organizations that were participating in and celebrating this awareness raising event and day. And we’ve now moved, 15 years later, to something that involves hundreds of organizations. So, already in number and size and impact, it’s grown tremendously. Now, the other major change is that it’s become global, although from the beginning we had the Americas, but we really now span all continents and all regions of the globe. So, that’s been a major evolution since the first Rare Disease Day. And I think equally as important is the fact that it’s really drawn the attention of other stakeholders.
It’s, of course, a patient-led movement, and its primary or one of its major objectives is to create a sense of community amongst people living with rare diseases and their families. But it’s really an opportunity to generate solidarity amongst all people who have something to contribute. Now it’s drawn the attention of major foundations, of pharmaceutical companies, of public institutions who now really recognize rare diseases as a public health and a public policy need.
This year, you are sharing 16 individual stories of people living with a rare disease from all around the world. How did you choose these particular patient journeys from the vast amount of currently known rare diseases?
It was, as you can imagine, not an easy process. There are 300 million people living with rare diseases across the world, and we can only expect that that’s actually very underrepresented. So, choosing 16 individuals, 16 heroes is not an easy exercise, but we were very careful in selecting individuals across rare disease groups, across regions of the world, across countries within those regions. And we really wanted to make sure that they represent people of all ages, women, men, also caregivers, and really reflect the fact that rare diseases can affect anyone. We wanted to make sure that everyone can identify themselves in these heroes and that they really feel as though their story and their voice is being amplified when they often can’t do it themselves.
What can you tell us about the “Rare 2030” project and its goals/vision?
Rare Disease Day is, of course, a general awareness raising campaign, but it’s also an opportunity to advocate for specific policies. So, this year’s call for action in Europe is to request and to call on the commission to bring forward a new European Action Plan for rare diseases. And over the last two years, we have conducted a foresight study with hundreds of experts and thousands of patients to really boil down the main recommendations for how we see future policies needing to unfold in the next ten years. And one of the major recommendations being that we really need to revisit the policy framework in Europe.
So, this Rare Disease Day, we are culminating all of our efforts in that advocacy, both at the grassroots but also the grasstops level to call for this action, of a new action plan. We have a few exciting outputs of that campaign that are going to be available on the day, including a book collecting thousands of reasons from individuals across Europe, demonstrating in their own words why they strongly feel that this new action plan for rare diseases will help them individually, as well as the video and all of those materials documented online.
It’s an opportunity for anyone who is an advocate to really take the messages and the challenges of people living with rare diseases in terms of their isolation and go really from a statement of problems to a proposal of solutions. And for anyone who has opportunities to speak to policymakers, both at the very local, regional or maybe national or international level, there’s a set of materials available to present that case and to really encourage public authorities to support this campaign in a new action plan for rare diseases.
Many thanks for your time and for the interview.