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In order to address the main challenges related to the rare diseases (RDs) the European Commission launched the European Reference Networks (ERNs), virtual networks involving healthcare providers (HCPs) across Europe. The mission of the ERNs is to tackle low prevalence and RDs that require highly specialised treatment and a concentration of knowledge and resources. In fact, ERNs offer the potential to give patients and healthcare professionals across the EU access to the best expertise and timely exchange of lifesaving knowledge, trying to make the knowledge travelling more than patients. For this reason, ERNs were established as concrete European infrastructures, and this is particularly crucial in the framework of rare and complex diseases in which no country alone has the whole knowledge and capacity to treat all types of patients. It has been five years since their kick-off launch in Vilnius in 2017. The 24 ERNs have been intensively working on different transversal areas, including patient management, education, clinical practice guidelines, patients' care pathways and many other fundamental topics. The present work is therefore aimed not only at reporting a summary of the main activities and milestones reached so far, but also at celebrating the first 5 years of the ERN on Rare and Complex Connective Tissue and Musculo-skeletal Diseases (ReCONNET), in which the members of the network built together one of the 24 infrastructures that are hopefully going to change the scenario of rare diseases across the EU.

ObjectiveThe aim of this work is to explore patient’ unmet needs of rare and complex rheumatic tissue diseases (rCTDs) patients during pregnancy and its planning by means of the narrative-based medicine (NBM) approach.MethodsA panel of nine rCTDs patients’ representatives was identified to codesign a survey aimed at collecting the stories of rCTD patients who had one or more pregnancies/miscarriages. The results of the survey and the stories collected were analysed and discussed with a panel of patients’ representatives to identify unmet needs, challenges and possible strategies to improve the care of rCTD patients.Results129 replies were collected, and 112 stories were analysed. Several unmet needs in the management of pregnancy in rCTDs were identified, such as fragmentation of care among different centres, lack of education and awareness on rCTD pregnancies among midwifes, obstetricians and gynaecologists. The lack of receiving appropriate information and education on rCTDs pregnancy was also highlighted by patients and their families. The need for a holistic approach and the availability specialised pregnancy clinics with a multidisciplinary organisation as well as the provision of psychological support during all the phases around pregnancy was considered also a priority.ConclusionThe adoption of the NBM approach enabled a direct identification of unmet needs, and a list of possible actions was elaborated to improve the care of rCTD patients and their families in future initiatives.

Aim: The European Reference Networks (ERNs) provide clinicians and patients the opportunity to collaborate at EU level to improve diagnosis, care and treatment for people living with rare and complex conditions. However, building a partnership culture to systematically involve patients in ERN activities and decision-making structures is challenging, partly because the role of patient representatives and the value of this collaboration are not always understood. The objective of this project was to develop an evaluation framework to assess the impact of patient engagement in the ERNs and to provide evidence on the value of patient-clinician partnership. Methods: The evaluation was developed by EURORDIS and patient representatives involved in the ERNs (ePAG advocates) through a participatory and iterative process. The work was organised in three different phases: (1) clarify roles and identify common goals for ePAG advocates’ engagement in the ERNs; (2) define a set of measures; and (3) test the measures in three different ePAGs (European Patient Advocacy Groups). Results: The project allowed developing a common understanding among ePAG advocates of their role and goals in the ERNs and defining a patient-driven evaluation framework to assess their level of engagement in the ERNs’ activities and how effectively they were working to fulfil their role. Conclusion: Engaging with ERN clinicians to refine the framework would probably render it more relevant to the reality and priorities of the specific ERNs and more valuable as a tool to build a strong partnership culture. Such an evaluation framework could be integrated into the ERNs’ quality improvement system to ensure that the networks’ activities are driven by and remain responsive to patients’ needs.