More Than You Can Imagine: A recap of our conference at the European Parliament
On 5 March 2025, policymakers, patient advocates, researchers, and healthcare leaders gathered at the European Parliament to mark Rare Disease Day 2025 and call for urgent EU action to address the unmet needs of the 30 million people living with a rare disease in Europe.
Co-hosted by MEPs Stine Bosse (Renew, Denmark) and Adam Jarubas (EPP, Poland), in collaboration with EURORDIS-Rare Diseases Europe, the event, Impact of Rare Diseases: More Than You Can Imagine, demonstrated the daily impacts of living with a rare disease and the value of stronger EU policies, targeted funding, and cross-border collaboration to tackle diagnostic delays, treatment gaps, and social inequalities affecting the rare disease community.
Against a backdrop of global economic and political uncertainty, speakers warned that inaction on rare diseases would come at a greater cost – not just for patients and families, but for healthcare systems and national economies.
Moderated by Enrique Terol, Health Counsellor of the Permanent Representation of Spain to the EU, the discussions stressed that while challenges persist, solutions already exist – what’s needed now is political will and decisive action.
Below, we break down, session by session, the key moments and discussions that shaped our event.
Opening Session: Setting the scene
Opening the event, MEP Stine Bosse, Vice Chair of the European Parliament’s Health (SANT) Committee, set the tone with a deeply personal account of her daughter’s struggle with a rare neurological condition. She described the frustration of navigating Denmark’s healthcare system, resorting to hours of online research to identify the diagnosis herself. This experience fuelled her determination to advocate for cross-border healthcare solutions, stressing that no family should face the same ordeal.
“We must never forget the most vulnerable of the vulnerable,” she said. “When we know a treatment exists, it is our obligation to ensure it reaches those who need it.” She also called for industry collaboration to ensure that rare disease treatments are affordable and accessible. Addressing the recent reduction in FDA support for rare diseases in the US, she urged the EU to step up and lead the way.
Avril Daly, President of EURORDIS, stressed the need to engage with the new European Commission to keep rare diseases high on the political agenda. She highlighted the importance of efficiency and collaboration, stating: “We can do things cheaper and smarter; we can use joined-up thinking – and that’s why it’s so important to have people in the room who can work together and find solutions.”
Her remarks reinforced the urgency of political commitment and collective action, setting the stage for the discussions that followed.
The Reality of Living with a Rare Disease
Adéla Odrihocká, a rare disease advocate from the Czech Republic living with Ehlers-Danlos syndrome, shared a powerful testimony about the daily struggles of people with rare diseases. She described her 20-year diagnostic odyssey, during which she was dismissed, misdiagnosed, and forced to advocate for herself in the absence of medical recognition.
Highlighting findings from the EURORDIS Rare Barometer survey, she stressed that most rare disease patients experience long delays in diagnosis, limited access to treatment, and inadequate social support. With only 6% of rare diseases having causal treatments, most patients rely on symptom management, often with no access to coordinated, multidisciplinary care.
“Living with a rare disease is an odyssey filled with barriers,” she lamented, underscoring the challenges patients face in seeking recognition and support. She called for greater investment in European Reference Networks (ERNs) to shorten diagnostic delays and ensure cross-border access to specialised care.
Expressing hope in European collaboration, she urged EU policymakers to deliver a European Action Plan on Rare Diseases to secure equal care, research funding, and long-overdue support for millions across Europe.
The Economic Toll of Rare Diseases
Tim Wilsdon, Vice President at Charles River Associates, presented findings from a study on the economic impact of rare diseases across nine countries. He revealed that the annual cost is €250 billion, surpassing that of cardiovascular, oncology, and neurology diseases combined.
With 74% of costs (€184 billion) linked to medical expenses, Wilsdon stressed that delays in diagnosis and treatment not only harm patients but also drive up costs for healthcare systems. He underscored the need for earlier intervention to ease both the financial and social burden of rare diseases
Session One: Diagnosing rare diseases faster and more accurately
The first panel explored why diagnosing rare diseases takes an average of five years and how to reduce these delays.
Professor Olaf Riess, of the Solve-RD project and the Institute of Medical Genetics and Applied Genomics in Tübingen, highlighted the importance of whole genome sequencing in improving diagnosis rates, noting that 80% of rare diseases have genetic origins. He called for better data sharing, AI-driven diagnostics, and stronger coordination between ERNs and national healthcare systems.
Thomas Minten, a researcher at KU Leuven, highlighted vast disparities in newborn screening across Europe, with some countries testing for “only two diseases are screened for, while others screen for 48,” stressing the need for EU-level harmonisation.
MEP Vlad Voiculescu warned against political inertia, stating, “We need to applaud common sense and rationality and science.” He called for stronger EU cooperation in rare disease research and healthcare, urging the expansion – not reduction – of ERNs and cross-border healthcare initiatives.
“This is what Europe is about – solidarity,” Voiculescu continued. “Solidarity between generations, between Member States, between people who have means and people who don’t, between those who are healthy and those who are sick.”
Session Two: Ensuring access to treatments
The second panel focused on the urgent need for new therapies and fair access to existing treatments, upon moderator Enrique Terol noting that less than 5% of rare diseases currently have a dedicated pharmacotherapy.
Sebastian Honoré, founder of the Cure Lowe Foundation, gave a deeply personal account of his son’s battle with Lowe Syndrome, an ultra-rare disease with no treatment – not due to a lack of science, but because of economic barriers. “We are at the cusp of a breakthrough,” he said, highlighting advances in understanding the disease. However, he warned that the financial risk of developing ultra-rare therapies makes them unattractive to investors, creating a “recipe for the orphan drug paradox.”
Stefano Benvenuti, representing Fondazione Telethon, detailed the struggles of bringing gene therapies to market, citing the case of a life-saving treatment for ADA-SCID and the challenges of an unsustainable business model. “We had to rescue this product because it’s not profitable,” he said, stressing that ultra-rare diseases require new funding mechanisms.
MEP Stine Bosse stressed that rare diseases require stronger European cooperation, as national-level approaches are often impractical. In smaller countries like Denmark, some rare diseases appear only once every five or ten years, making cross-border access to specialised care essential.
She called for better coordination and financial support to help patients travel for treatment. Bosse also urged practical solutions, including easier access to cross-border clinical trials and patient-centred innovation.
Session Three: Holistic care and social isolation
The third panel explored the wider impact of rare diseases beyond medical treatment, given that eight in 10 people with a rare condition relatedly live with a disability.
Speaking again, Adéla Odrihocká described how living with a rare disease impacts education, employment, mental health, and social inclusion. She highlighted the constant struggle for recognition, stating, “It means spending your life justifying your condition over and over again, explaining, proving, and reproving its impact.”
Karsten Vanden Wyngaert, from Ghent University Hospital and ERKNet, argued that holistic, multidisciplinary care should be the standard, not the exception. He stressed the need for social workers, educators, and mental health professionals to be integrated into rare disease care pathways.
MEP Tilly Metz (Greens, Luxembourg) called for a stronger EU disability strategy, stressing the need for better recognition and harmonisation of disability assessments across Member States. “Obtaining an adequate and timely disability assessment remains a major obstacle,” she said, urging policymakers to address this in the post-2025 Disability Strategy: “A big demand towards the post-2025 Disability Strategy is to improve the recognition of disability assessments across Europe, but also to increase the quality and coverage of the assessment in general. We need this harmonisation.”
She also underscored the importance of integrating mental health into rare disease policies, stating, “It’s not only about making people stay alive, but also that they feel alive and feel part of society.”
Closing Remarks: A call for an EU Action Plan
During the closing remarks, Ágnes Cser, who had been the rapporteur of the European Economic and Social Committee (EESC) October 2024 Opinion on rare diseases, called for 2026 to be officially designated as the “Year of Rare Disease Patients” and reiterated the need for an EU-wide Action Plan.
Speaking for the broader rare disease community, Virginie Bros-Facer, Chief Executive Officer of EURORDIS, delivered a powerful appeal for political action. “We have the data. We have the expertise. Now, we need the action.”
“The rare disease community will not stop pushing until Europe delivers a comprehensive EU Action Plan for Rare Diseases,” she declared.
MEP Stine Bosse closed the event with a final call to action: “We hear you loud and clear. Keep pushing us, and we will push for change.”
Looking Ahead & Taking Action
The Rare Disease Day event at the European Parliament reinforced the urgent need for a bold, coordinated EU approach. Discussions highlighted the need for faster diagnosis, equitable access to treatments, and comprehensive social support. Now, the rare disease community has a key opportunity to push these priorities forward.
In the days before our event, the European Parliament’s Public Health Committee (SANT) had launched a public consultation on rare diseases to better understand the challenges faced by patients and those working in the field. As the Committee gains greater influence over EU health policy, this is a crucial moment to advocate for better funding, stronger cooperation, and greater recognition of the unmet needs of people living with a rare disease and their families.
EURORDIS has outlined its key priorities in its own consultation response, and we encourage you to submit your own response by 31 March.
With policymakers actively seeking input, now is the time to ensure patient voices shape future EU policies. EURORDIS remains committed to turning discussions into action – with the rare disease community more united than ever in its call for bold leadership.
Watch the event recording!
Julien Poulain, Communications Manager