Addressing the Needs of Rare Disease Patients in Europe

In Europe, an estimated thirty-six million individuals face the challenges of living with rare diseases, which affects over a million people in the Nordic countries alone. This situation transcends mere medical issues; it encompasses essential human rights concerns.

The Impact of Delays in Diagnosis

For those affected by rare diseases, the consequences of delays in diagnosis can be devastating. Reports indicate that individuals with these conditions experience a health-related quality of life that is 32% lower than those who do not. Financially, the annual expense for each patient across Europe, including the costs incurred by caregivers, is approximately €121,900.

On average, patients in Europe can expect to wait six to eight years for a definitive diagnosis, during which their health steadily declines and they face inconsistent access to treatments.

Economic Burdens in the Nordics

In Sweden, patients dealing with rare diseases incur costs averaging €118,000 annually, which is still six times higher than for those without a rare condition. A significant portion of this financial burden, about 65%, is attributed to direct medical expenses. Additionally, caregivers often find themselves sacrificing almost ten times more hours at work compared to those supporting patients without rare diseases.

Yet, for patients able to access approved treatments, the figures show some promise, with costs averaging €107,000 annually. Still, delays continue to be a significant hurdle, and with rapid advancements in health innovation, new therapies risk amplifying existing inequities if the systems supporting access are not modernized.

Progress and Ongoing Challenges

Today, the likelihood of receiving a timely diagnosis has improved, along with the availability of life-changing therapies, particularly in the Nordic region, which is renowned for its integrated research and clinical frameworks. However, without essential reforms, there is a risk that many patients will be overlooked.

Persistent Systemic Barriers

• Unequal Access: Less than 10% of patients with rare diseases have access to approved treatments. Statistics show that among the 66 orphan medicines approved between 2020 and 2023, an average of 28 were accessible across Europe, with only Denmark exceeding this number with 34.
• Slow Decision-Making: Lengthy health technology assessments and varying regional processes often lead to delays. Patients in Europe typically wait a median of 531 days from when a drug is approved to when it becomes available. In some regions, such as Norway and Poland, reimbursement decisions can take over two years.
• Funding Limitations: Despite an increase in the number of therapies available, orphan medicines constitute just 6.6% of overall pharmaceutical budgets and only 1.2% of health budgets in Europe. Nordic countries allocate less funding compared to nations like France and Belgium, highlighting a need for policy-focused adjustments.

Breaking Down Barriers

There’s a strong consensus among policymakers, healthcare professionals, and patient advocates in the Nordics: the pace of scientific advancements is outstripping the systems designed to deliver them. Therefore, urgent reforms are necessary to prevent patients from being overlooked.

Essential Changes Needed

• Improved Governance: Current policies for rare diseases in the Nordics tend to be disjointed and temporary. Experts recommend creating enduring frameworks backed by dedicated funding and accountability, ensuring steady progress toward meeting patient needs.
• Support for Patient Organizations: While patient groups are vital for awareness and care access, many operate with limited or short-term funding. Long-term support and inclusion in policy-making processes are essential to ensure patient perspectives influence decisions effectively.
• Enhanced Care Pathways: Significant foundational work has been accomplished in Sweden, but there is still a need for more resources in frontline services. Establishing comprehensive centers dedicated to rare diseases, where patients actively work alongside healthcare professionals, is also needed.
• Investment in Research: Increased funding for genomic medicine and related infrastructure is critical. While Sweden excels in diagnostics, further investment is necessary, especially for adult testing, to overcome delays in recognizing genetic causes and developing targeted therapies. A national healthcare data platform that integrates patient records and outcomes could also facilitate this progress.

Looking Ahead

As breakthroughs in treatment options loom on the horizon, the pressing question remains: will Europe be equipped to provide equitable access to these advancements, or will patients continue to experience excessive wait times? With promising developments in the Nordic region, there is potential to set a benchmark for rare disease care across Europe. However, swift action and collaborative efforts are imperative to ensure effective solutions are shared and put into practice across borders.

Conclusion

Immediate action is essential to address the disparities in access to rare disease care. Initiatives should focus on:

• Establishing sustainable governance and funding mechanisms for rare disease infrastructure.
• Providing consistent support to patient organizations.
• Creating well-defined and coordinated care pathways.
• Investing in research and equitable access to innovative treatments.

Ensuring timely access to treatment is not only a matter of fairness but also a means of reducing overall costs. Delayed action only increases the burden on patients, their families, and healthcare systems. The scientific community is advancing; now, it’s crucial to reform systems so that no one living with rare diseases in the Nordics or elsewhere in Europe is left waiting.