EMR Rare Diseases

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By definition, a disease is called “rare” if less than one of 2,000 people is affected. About 6-8 %1of the population is afflicted by a rare disease. Furthermore, due to better diagnostic methods, an increase in identified rare diseases is to be expected. This relates also to the identification of rare forms of common existing diseases – e.g. Diabetes or Cancer. Rare diseases are receiving increasing attention on national and European levels. In the Euregio Maas-Rhine (EMR), up to 300.000 persons, often children, have rare diseases not including relatives, friends and others impacted by the presence of the disease. Hence, the number of concerned patients is comparable to numbers of more common diseases.These patients usually experience difficulties in receiving the right diagnosis, treatment and in organizing everyday life.To realize substantive improvements in integrated care for rare disease patients, hospitals and other healthcare providers, healthcare insurers and patient organisations within the EMR will join forces. Through seven activities, the consortium will develop solutions for optimized RD patient pathways, make the provision of relevant information more effective, and improve networking and training related to rare disease care. The project will take into account developments at national (e.g. national plans) and European level (e.g. Directive 2011/24/EU2/ERNs). Challenges: Rare disease patients confront health providers and systems with extraordinary challenges. Due to the specificity of symptoms and difficulty of diagnosis associated with rare diseases, most patients undergo an odyssey before they even know that they have a rare disease. Knowledge is often scattered and to find the right institution is often very difficult. Such patients normally desire medical treatment and support as near as possible to their home. Nonetheless, in the EMR, especially rare disease patients are forced to seek care across borders within a care system other than that of their country of affiliation. Clarification of available resources (especially appropriate treatment and financial reimbursement) is therefore essential. Therefore, joining forces in the EMR is attractive despite of the challenges of different health care systems and languages. Project Objectives: - Increase the transparency of needs and availability of services in the field of rare diseases in the EMR. - Develop EMR models of RD patient pathways in order to elaborate patient-oriented recommendations in synergy with national and European developments. - Improve the network of health care providers, health insurance providers and patient organisations and to raise (public) awareness for rare diseases. - Long term general aim is to improve the quality of life of these patients. Main activities: An important first step is to map the demand and needs of patients, the available expertise and the legal framework in the EMR in the field of Rare diseases. In a second step, a certain number of “real life” patient pathways will be analyzed: hurdles will be identified and more efficient organizational models will be proposed in close collaboration with RD patients, patient organisations, health care providers and health insurers. The basis for this will be a tight network between all the stakeholders and therefore, special attention is given to networking, information dissemination and training. During all activities, other developments and existing structures will be taken into account as the Internet portal Orpha.net and the 3 National Rare Disease Plans. Main expected results and outputs: As a result, citizens of the EMR affected by a rare disease will experience better support and a coordinated access to the specialized expertise they need. The public awareness around rare diseases will also increase. Patient involvement in health research and quality of health care will be stimulated. Patient empowerment will increase. International cooperation will be boosted – as rare diseases do not stop at borders. Also for health professionals cooperation will be improved and expertise increased. Health costs will be reduced. All partners will profit from the enhanced network. Furthermore, the project will lead to results which can also be used for more common diseases. In addition, the region can serve as a pilot area for other European projects. Added value of cooperation: This patient oriented project will bring all important stakeholders in the field in the EMR together. At the time being, there is a very diverse picture in the EMR with institutions working together excellently and others not. Bringing all of them together will not only be crucial for success of this project, but also pave the way for other endeavours which can build on this first project.

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