Bridging the Gap between Health and Social Care for Rare Diseases: Key Issues and Innovative Solutions

Abstract

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.

Designing rare disease care pathways in the Republic of Ireland: a co-operative model

“…These conditions tend to be complex, serious, debilitating, chronic and multi-systemic, often associated with physical, sensory and intellectual disability. In many cases patients require follow-up care with management from multiple medical specialists and health and social care professionals, which necessitates a high level of integrated care and service coordination between hospital, community, social and primary care services [ 3 ].…”

Post-diagnosis young-onset dementia care in the National Disability Insurance Scheme

“…This problem has persisted over time, across countries (Kerpershoek et al, 2020; Stamou et al, 2020), and was a key barrier to service access in Australia when YOD was managed in the aged care system (Cations et al, 2017). Delivery of tailored services for people with rare conditions is a perennial challenge (Castro et al, 2017), especially in Australia where the population of people with YOD is spread out across a large geographical area. Disability providers may encounter very few people with YOD (if any) each year, reducing the imperative to stay abreast of best-practice recommendations for their care.…”

“…Disability providers may encounter very few people with YOD (if any) each year, reducing the imperative to stay abreast of best-practice recommendations for their care. Innovative approaches to address this issue are needed, for example, examining the potential value of tele-support and training, local ‘champions’ or hybrid services co-funded and delivered by aged care and disability service providers (Castro et al, 2017). In addition, an advisory ‘key worker’ programme was available for Australians with YOD from 2013 to 2019, which provided navigational support that was highly valued where it was used (Westera and Fildes, 2016).…”

Navigating the U.S. health insurance landscape for children with rare diseases: a qualitative study of parents’ experiences

“…Rare disease patients and families across the globe and different healthcare systems have expressed challenges finding care and experts knowledgeable in their disease [6,7,16,61]. However, some countries have made more significant attempts to address these problems by establishing rare disease centers of excellence and national rare disease plans [72,73]. There are some similar initiatives through the NIH and patient advocacy organizations at the state and federal level that could be supported to further facilitate access to care [1,74].…”