Rare diseases: a European success story

Rare diseases, often of genetic origin, affect small to extremely small populations of patients (fewer than 1 in 2,000 individuals). Most rare diseases are chronic, progressive, degenerative, disabling and frequently life-threatening. Each of the over 6,000 identified rare diseases affects a very small population, but altogether they affect 25 to 30 million of people in the EU, around 5% of the EU population, or the population of Belgium and the Netherlands combined. And this is without taking into including carers, families and friends.

These diseases are ‘rare’ because their prevalence in the general population is extremely low, and because they are all too often ‘forgotten’ precisely because of the scarcity of medical knowledge about them. The lack of knowledge means that many rare diseases are not diagnosed, that disabilities and other symptoms are not recognised, and that in turn persons with rare diseases do not receive the same compensatory support as those with more common and well-known conditions. Individual countries cannot face alone issues related to rare diseases.

Rare diseases represent an area where European action brings true added value, and the most effective strategies are cross-border and EU-wide. A strong track record of achievements on rare diseases has been established through cross-country collaboration and the support of the European Union. A number of countries led the way with the first European legislative text concerning rare diseases -the Orphan Medicinal Product Regulation of 16 December 1999 – and the subsequent Commission Communication (2008) and Council Recommendation (2009), not to mention the Directive on Patients’ Rights in Cross Border Healthcare (2011).

The landscape has changed drastically during this time. We have gone from near ignorance to the recognition of rare diseases as a public health priority in Europe. Expertise and innovative technologies that can potentially benefit people living with a rare disease have been developed. Most EU member states now have national rare disease strategies and connected specialised centres of care, thanks to the establishment of European Reference Networks (ERNs).

Rare disease research is stronger and recognised for its excellence. Collaboration between the ‘healthcare’ and ‘research’ domains is increasing, and will continue to grow (bolstered by the European Joint Programme Co-Fund for Rare Disease research). The rare disease patient community is bigger, better connected and highly skilled. Its spirit is collaborative across very different diseases, countries and stakeholders in Europe. Patients are now being taken seriously and listened to by policymakers, researchers and companies.

Still there is a lot left to do. A significant challenge for patients, professionals, and health and social systems in Europe is the absence of streamlined, integrated pathways to allow people living with rare diseases to navigate health and social care systems. This is particularly problematic in view of the complexity of many of these 6,000 conditions, and the lack of awareness and understanding in all sectors of society regarding their full impact.

The remarkable technological and scientific advances of the past years unlock the potential of diagnostic tools for rare diseases and present an exponential increase in novel technologies and therapies on the market. These new opportunities embody hope for patients, but in parallel bring about concerns in terms of access and of sustainability for health budgets. The Regulation on Orphan Medicinal Products enshrined regulation the right for people suffering from rare conditions to be entitled to the same quality of treatment as other patients and it has been a success in fulfilling its primary purpose – to attract investment to the development of therapies for life-threatening or debilitating diseases for millions of people who today have either no treatment at all or no satisfactory treatment.

Despite successful progress, the original ambitions remain far from being fully achieved, especially when considering patient access to approved therapies across Europe. New scientific developments, the promise of many new therapies and new diagnostic landscape raise hope, but new challenges in pricing and access of therapies show how existing models are not sustainable, and an area where increased European cooperation could bring concrete solutions.

The Rare2030 Foresight study, launched in January and funded by the European Commission, is gathering the input of a large group of patients, practitioners and key opinion leaders to propose policy recommendations that will answer leading us for a better future for people living with a rare disease in Europe in the next decade.

We move forward with these challenges. The needs of patients and families are huge and the community is calling for more action, now. We welcome the Sibiu Declaration where European leaders set the goal of “reducing disparities between us and …. help[ing] the most vulnerable in Europe, putting people before politics”. We need to be ambitious and visionary. Europe is stronger together, and policies on rare diseases demonstrate its impact on European citizens.