How patient advocacy groups are shaping the future of rare diseases in Europe

Patients play a central role in the 24 European Reference Networks established to advance the diagnosis and care of rare diseases
There are between 5,000 and 8,000 rare diseases affecting an estimated 30 million people in Europe. Defining, diagnosing and treating these conditions is a complex task because patient populations are small, and expertise is dispersed across the continent. This makes it difficult for clinicians to study the diseases and challenging for patients to access experts. The result is that patients typically spend around eight years on a ‘diagnostic odyssey’ searching for an accurate diagnosis which, they hope, might unlock better care.
The EU has come up with a solution: by connecting clinical and patient experts around Europe, they are working to enhance patient care. In Vilnius in March 2017, 24 European Reference Networks (ERN) were established, catering for groups of rare and complex conditions. For example, there is a dedicated ERN for rare epilepsies, another for rare paediatric cancers, and yet another for rare kidney disorders.
The networks can use an online consultation platform – a secure website for sharing patient information, including diagnostic imaging files – and hold virtual team meetings. This has already benefited a small number of patients. The ERNs have even more potential to devise guidelines, build patient registries and conduct research on diseases which have been perennially neglected. None of this can be achieved without patients.
At the 4th ERN conference held in Brussels in late November 2018, patient voices were prominent. Central to the establishment and operation of the ERNs is EURORDIS, an alliance of patient organisations representing more than 800 conditions. Yann Le Cam, Chief Executive Officer EURORDIS reminded the large gathering that patient experience is invaluable in the care of rare diseases because clinicians have limited contact with rare conditions. To ensure patient voices were heard, EURORDIS established 24 European Patient Advocacy Groups (ePAGs), mirroring the themes of the ERNs.
‘The ePAGs were created to ensure solidarity, inclusivity and democratic representation,’ said Mr Le Cam. ‘They allow meaningful involvement of patients and ensure that the networks are patient-centred.’ There are now around 300 patient advocates involved in ERNs, 255 are working together in the ePAGs and 60% of these are EURORDIS members from across Europe. These advocates represent the wider patient community, creating a bridge between the ERNs and the European rare disease patient community. They contribute at the strategic level, steering and shaping the development of ERNs together with the clinicians, and through their engagement in disease-specific networks. ePAG members are empowered through face-to-face and online training to help to maximise their impact when working with the networks.
All 24 ERN governing bodies include patient representatives, ensuring a cultural shift in how clinicians and patients collaborate on rare and complex diseases. ePAGs are vital to identifying gaps and priorities in terms of educational resources, clinical practice guidelines and research. They hold important information on healthcare pathways and bring outside expertise to the networks. ‘Patient representatives are parents or patients, but they are also engineers, business people, consultants – experts in other fields,’ Mr Le Cam said.
The conference dedicated a workshop to patient-healthcare professional partnerships, focusing on issues such as developing trust and credibility, collaborating on guidelines development, and how all parties need to further develop their communication skills to build effective partnerships.
Priority areas for the future include defining health outcomes and indicators, developing a common patient feedback mechanism across all ERNs, and ensuring access to the networks for as many citizens as possible. As the workload grows, the question of reimbursing patient advocates for their time will also arise if the networks are to remain patient-centric.
However, at this year stage in their development, ERNs are already showing how patients can be afforded parity of esteem with other experts in multidisciplinary groups. They may become a model of co-creation for other disease networks to follow.