Bridging the gaps between health and social care for rare diseases is not only necessary but crucial to increase the life expectancy, quality of life and autonomy of people living with a rare disease, supporting them in the full realisation of their fundamental human rights.The complexity of rare diseases, their strong relation to disability and the current unmet social and daily life needs of people living with a rare disease must not be underestimated and require urgent attention from all stakeholders involved in care provision, from healthcare to social and community services.The Commission Expert Group Recommendations to Support the Incorporation of Rare Diseases into Social Services and Policies, adopted unanimously in April 2016, by the representatives of European Member States and the other rare disease stakeholders, clearly set the tone for the need to promote measures that facilitate multidisciplinary, holistic, continuous, person-centred and participative care provision to people living with rare diseases.These recommendations, sided by other recent policy developments at European and national levels, represent an important policy step into approaching rare diseases' complex challenges in regards to holistic care provision.Innovative approaches aiming at bridging the gap between health, social and community service and support providers are currently being developed and tested in different European countries: standards of care, networks of expertise, case management services, one-stop-shop services, amongst others.These ongoing pilot approaches, presented in this chapter, have the power to inspire future policies and the effective and efficient implementation of holistic care pathways for people living with a rare disease, bringing about significant changes for patients, carers, care providers, competent authorities and the society at large.Nonetheless, the challenges to fully address this issue remain numerous and other key issues will also need to be taken into account when moving forward with the implementation of measures that aim at bridging the gaps between care providers and providing holistic care to people living with a rare disease.
Background: The European Reference Networks, ERNs, are virtual networks for healthcare providers across Europe to collaborate and share expertise on complex or rare diseases and conditions. As part of the ERNs, the Clinical Patient Management System, CPMS, a secure digital platform, was developed to allow and facilitate web-based, clinical consultations between submitting clinicians and relevant international experts. The European Reference Network on Intellectual Disability, TeleHealth and Congenital Anomalies, ERN ITHACA, was formed to harness the clinical and diagnostic expertise in the sector of rare, multiple anomaly and/or intellectual disability syndromes, chromosome disorders and undiagnosed syndromic disorders. We present the first year results of CPMS use by ERN ITHACA as an example of a telemedicine strategy for the diagnosis and management of patients with rare developmental disorders. Results: ERN ITHACA ranked third in telemedicine activity amongst 24 European networks after 12 months of using the CPMS. Information about 28 very rare cases from 13 different centres across 7 countries was shared on the platform, with diagnostic or other management queries. Early interaction with patient support groups identified data protection as of primary importance in adopting digital platforms for patient diagnosis and care. The first launch of the CPMS was built to accommodate the needs of all ERNs. The ERN ITHACA telemedicine process highlighted a need to customise the CPMS with network-specific requirements. The results of this effort should enhance the CPMS utility for telemedicine services and ERN-specific care outcomes.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.