Thirty-six million Europeans — including more than one million in the Nordics[1] — live with a rare disease.[2] For patients and their families, this is not just a medical challenge; it is a human rights issue.
Diagnostic delays mean years of worsening health and needless suffering. Where treatments exist, access is far from guaranteed. Meanwhile, breakthroughs in genomics, AI and targeted therapies are transforming what is possible in health care. But without streamlined systems, innovations risk piling up at the gates of regulators, leaving patients waiting.
Even the Nordics, which have some of the strongest health systems in the world, struggle to provide fair and consistent access for rare-disease patients. Expectations should be higher.
The burden of delay
The toll of rare diseases is profound. People living with them report health-related quality-of-life scores 32 percent lower than those without. Economically, the annual cost per patient in Europe — including caregivers — is around €121,900.[3]
Across Europe, the average time for diagnosis is six to eight years, and patients continue to face long waits and uneven access to medications.
In Sweden, the figure is slightly lower at €118,000, but this is still six times higher than for patients without a rare disease. Most of this burden (65 percent) is direct medical costs, although non-medical expenses and lost productivity also weigh heavily. Caregivers, for instance, lose almost 10 times more work hours than peers supporting patients without a rare disease.[4]
This burden can be reduced. European patients with access to an approved medicine face average annual costs of €107,000.[5]
Yet delays remain the norm. Across Europe, the average time for diagnosis is six to eight years, and patients continue to face long waits and uneven access to medications. With health innovation accelerating, each new therapy risks compounding inequity unless access pathways are modernized.
Progress and remaining barriers
Patients today have a better chance than ever of receiving a diagnosis — and in some cases, life-changing therapies. The Nordics in particular are leaders in integrated research and clinical models, building world-class diagnostics and centers of excellence.
Without reform, patients risk being left behind.
But advances are not reaching everyone who needs them. Systemic barriers persist:
- Disparities across Europe: Less than 10 percent of rare-disease patients have access to an approved treatment.[6] According to the Patients W.A.I.T. Indicator (2025), there are stark differences in access to new orphan medicines (or drugs that target rare diseases).[7] Of the 66 orphan medicines approved between 2020 and 2023, the average number available across Europe was 28. Among the Nordics, only Denmark exceeded this with 34.
- Fragmented decision-making: Lengthy health technology assessments, regional variation and shifting political priorities often delay or restrict access. Across Europe, patients wait a median of 531 days from marketing authorization to actual availability. For many orphan drugs, the wait is even longer. In some countries, such as Norway and Poland, reimbursement decisions take more than two years, leaving patients without treatment while the burden of disease grows.[8]
- Funding gaps: Despite more therapies on the market and greater technology to develop them, orphan medicines account for just 6.6 percent of pharmaceutical budgets and 1.2 percent of health budgets in Europe. Nordic countries — Sweden, Norway and Finland — spend a smaller share than peers such as France or Belgium. This reflects policy choices, not financial capacity.[9]
If Europe struggles with access today, it risks being overwhelmed tomorrow. Rare-disease patients — already facing some of the longest delays — cannot afford for systems to fall farther behind.
Easing the bottlenecks
Policymakers, clinicians and patient advocates across the Nordics agree: the science is moving faster than the systems built to deliver it. Without reform, patients risk being left behind just as innovation is finally catching up to their needs. So what’s required?
- Governance and reforms: Across the Nordics, rare-disease policy remains fragmented and time-limited. National strategies often expire before implementation, and responsibilities are divided among ministries, agencies and regional authorities. Experts stress that governments must move beyond pilot projects to create permanent frameworks — with ring-fenced funding, transparent accountability and clear leadership within ministries of health — to ensure sustained progress.
- Patient organizations: Patient groups remain a driving force behind awareness, diagnosis and access, yet most operate on short-term or volunteer-based funding. Advocates argue that stable, structural support — including inclusion in formal policy processes and predictable financing — is critical to ensure patient perspectives shape decision-making on access, research and care pathways.
- Health care pathways: Ann Nordgren, chair of the Rare Disease Fund and professor at Karolinska Institutet, notes that although Sweden has built a strong foundation — including Centers for Rare Diseases, Advanced Therapy (ATMP) and Precision Medicine Centers, and membership in all European Reference Networks — front-line capacity remains underfunded. “Government and hospital managements are not providing resources to enable health care professionals to work hands-on with diagnostics, care and education,” she explains. “This is a big problem.” She adds that comprehensive rare-disease centers, where paid patient representatives collaborate directly with clinicians and researchers, would help bridge the gap between care and lived experience.
- Research and diagnostics: Nordgren also points to the need for better long-term investment in genomic medicine and data infrastructure. Sweden is a leader in diagnostics through Genomic Medicine Sweden and SciLifeLab, but funding for advanced genomic testing, especially for adults, remains limited. “Many rare diseases still lack sufficient funding for basic and translational research,” she says, leading to delays in identifying genetic causes and developing targeted therapies. She argues for a national health care data platform integrating electronic records, omics (biological) data and patient-reported outcomes — built with semantic standards such as openEHR and SNOMED CT — to enable secure sharing, AI-driven discovery and patient access to their own data
Delivering breakthroughs
Breakthroughs are coming. The question is whether Europe will be ready to deliver them equitably and at speed, or whether patients will continue to wait while therapies sit on the shelf.
There is reason for optimism. The Nordic region has the talent, infrastructure and tradition of fairness to set the European benchmark on rare-disease care. But leadership requires urgency, and collaboration across the EU will be essential to ensure solutions are shared and implemented across borders.
The need for action is clear:
- Establish long-term governance and funding for rare-disease infrastructure.
- Provide stable, structural support for patient organizations.
- Create clearer, better-coordinated care pathways.
- Invest more in research, diagnostics and equitable access to innovative treatments.
Early access is not only fair — it is cost-saving. Patients treated earlier incur lower indirect and non-medical costs over time.[10] Inaction, by contrast, compounds the burden for patients, families and health systems alike.
Science will forge ahead. The task now is to sustain momentum and reform systems so that no rare-disease patient in the Nordics, or anywhere in Europe, is left waiting.
[1] https://nordicrarediseasesummit.org/wp-content/uploads/2025/02/25.02-Nordic-Roadmap-for-Rare-Diseases.pdf
[2] https://nordicrarediseasesummit.org/wp-content/uploads/2025/02/25.02-Nordic-Roadmap-for-Rare-Diseases.pdf
[3] https://media.crai.com/wp-content/uploads/2024/10/28114611/CRA-Alexion-Quantifying-the-Burden-of-RD-in-Europe-Full-report-October2024.pdf
[4] https://media.crai.com/wp-content/uploads/2024/10/28114611/CRA-Alexion-Quantifying-the-Burden-of-RD-in-Europe-Full-report-October2024.pdf
[5] https://media.crai.com/wp-content/uploads/2024/10/28114611/CRA-Alexion-Quantifying-the-Burden-of-RD-in-Europe-Full-report-October2024.pdf
[6] https://www.theparliamentmagazine.eu/partner/article/a-competitive-and-innovationled-europe-starts-with-rare-diseases?
[7] https://www.iqvia.com/-/media/iqvia/pdfs/library/publications/efpia-patients-wait-indicator-2024.pdf
[8] https://www.iqvia.com/-/media/iqvia/pdfs/library/publications/efpia-patients-wait-indicator-2024.pdf
[9] https://copenhageneconomics.com/wp-content/uploads/2025/09/Copenhagen-Economics_Spending-on-OMPs-across-Europe.pdf
[10] https://media.crai.com/wp-content/uploads/2024/10/28114611/CRA-Alexion-Quantifying-the-Burden-of-RD-in-Europe-Full-report-October2024.pdf
Disclaimer
POLITICAL ADVERTISEMENT
- The sponsor is Alexion Pharmaceuticals
- The entity ultimately controlling the sponsor: AstraZeneca plc
- The political advertisement is linked to policy advocacy around rare disease governance, funding, and equitable access to diagnosis and treatment across Europe
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