Giving ‘rare’ a voice

Stronger EU-wide collaboration is crucial to overcoming barriers in the diagnosis and treatment of rare diseases, reports Brian Johnson.
credit: Jean-Yves Limet

By Brian Johnson

Brian Johnson is Managing Editor of The Parliament Magazine

02 Mar 2020


This was the main message emerging from an exhibition in the European Parliament aimed at raising awareness of rare diseases and the challenges facing people living with them. Addressing attendees during an exhibition showcasing the work of internationally-acclaimed artist Phil L. Herold, who suffers from Spinal Muscular Atrophy (SMA), European Commissioner for Health and Food Safety, Stella Kyriakides said “living with a rare disease really does require incredible strength. And today, seeing that we can turn that experience into art, and turn that into a message that inspires others is something that we can all admire."


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Over the last decade Rare Diseases Day has become internationally recognised, with events taking place across the globe. Kyriakides added, “this is an exhibition that I feel is a celebration of excellence and willpower. As we can see from the artwork surrounding us, people with rare diseases have rare skills and rare vision.”

She said that when it came to rare diseases, working together and collaboration were crucial. “Thanks to our collective efforts there are now 24 European Reference Networks (ERNs), an excellent example of the power of EU-wide collaboration.”

The packed exhibition of Herold’s work, entitled Bigger than Life was organised by global biotechnology and pioneering neuroscience company, Biogen and EURORDIS, the European patient organisation for rare diseases.

"This is an an exhibition that I feel is a celebration of excellence and willpower. As we can see from the artwork surrounding us, people with rare diseases have rare skills and rare vision" European Commissioner for Health and Food Safety, Stella Kyriakides

Speaking through a voice synthesiser, Herold said, “you have to play the hand you were dealt with, but I think the game is worthwhile.” He explained that his art was based on the ability “to endure, to love, to carry on and to make the best of what we have. You don’t have to be Phil L. Herold to do that. Once we choose hope, everything is possible. I am the living proof of that.”

Attendees were also treated to a stunning performance by soprano Noémie Desquiotz-Sunnen who has Amyotrophic lateral sclerosis (ALS), also known as Motor Neurone Disease or Lou Gehrig’s disease. Desquiotz-Sunnen explained that despite treatment to slow the disease down, “my future with ALS scares me a lot."

"The most terrible thing for me will be to lose my voice. That’s why I don’t want to look back at what I have lost, and I also don’t want to look too far into the future; I am living now in the present and for now I can still sing.”

MEPs Tomisav Sokol and Stelios Kympouropoulos argued that despite affecting as many as 36 million people across the EU, the challenges facing people with rare diseases are still poorly understood. “The rarity of many of these diseases creates a lack of scientific knowledge and legislative gaps around patients’ human rights, affecting their health and quality of care.”

Both MEPs praised the introduction of the EU’s Orphan Medicinal Product Regulation, which over its 20-year existence has helped incentivise companies to research and develop treatments for rare diseases. However, despite boosting the number of treatments, Sokol and Kympouropoulos - co-hosts of the Bigger than Life exhibition - argued there is still a long way to go in ensuring timely and equal access to rare disease care.

Kympouropoulos told The Parliament Magazine, “I’m a guy with a rare disease; I have SMA, but above all I’m an ordinary person, with ordinary needs. As a politician I want to ensure that orphan drugs continue to be funded. We need more research in this field.”

Sokol, meanwhile, said he believed that national governments realise that there are some issues where they need collaboration between different Member States. “We know that rare diseases cannot just be tackled by individual Member States. I’m from Croatia, a small country with only four million people, and it’s just not physically possible for us to have the healthcare resources, to tackle all the different rare diseases. We need cross-border collaboration and the EU is best equipped to help all of us achieve that.”

Biogen President Europe, Canada and Partner Markets Johanna Friedl-Naderer, said, “We all need to tackle rare diseases, there is so much to do and the journey has only just started. Together we can transform the lives of people with rare diseases.” Biogen was founded in Europe and in 2017 introduced the first treatment for Spinal Muscular Atrophy.

Friedl- Naderer highlighted the importance of early detection and diagnosis through newborn screening saying, “An early diagnosis can determine whether babies born with SMA have the chance to celebrate their second birthday. However, most countries in Europe are still not testing for SMA at birth.”

"We all need to tackle rare diseases; there is so much to do and the journey has only just started. Together we can transform the lives of people with rare diseases" Biogen President Europe, Canada and Partner Markets, Johanna Friedl-Naderer

Thanking both artists “for sharing their experiences”, fellow MEP co-host Loucas Fourlas highlighted that “with more than 300 million people living with a rare disease worldwide, it looks like rare is not so rare”, and warned that “millions of people feel isolated and disappointed” because of the lack of data and research.

Addressing Herold and Desquiotz-Sunnen directly, Fourlas said, “I understand the difficulties you are facing. As members of the European Parliament, we have an obligation to stand by your side. And we will do so, through research and funding opportunities. You have my endless admiration for your strength and your passion to create and express yourselves.”

Sponsored event by Biogen