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.
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Notes
- 1.
Orphanet, the reference portal for information on rare diseases and orphan drugs, is currently working on describing the functional consequences of each rare disease, having developed the Orphanet Functioning Thesaurus, derived and adapted from the International Classification of Functioning, Disability and Health – Children and Youth (ICF-CY, WHO 2007). More information is available here: http://www.orpha.net/consor/cgi-bin/Disease_Disability.php?lng=EN.
- 2.
The EUCERD Joint Action: Working for Rare Diseases, co-funded by the EC, supported the activities and mandate of the EUCERD until the end of 2013 and the activities of the CEGRD, from 2014. More information available at: http://www.eucerd.eu/?page_id=54.
- 3.
More information available at http://www.eucerd.eu/?page_id=304.
- 4.
More information available at http://www.eucerd.eu/?page_id=3449.
- 5.
The European Commission Communication can be consulted at: http://ec.europa.eu/health/ph_threats/non_com/docs/rare_com_en.pdf.
- 6.
The Council Recommendation can be consulted at http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2009:151:0007:0010:EN:PDF.
- 7.
Centres of Expertise are physical expert structures for the management and care of RD patients. Each CE is specialised in a single RD or group of RDs and share the mission of providing patients with the highest standards of care to deliver timely diagnosis, appropriate treatments and follow up. More information available at http://www.eurordis.org/sites/default/files/publications/factsheet_Centres_Expertise.pdf
- 8.
More information available at: http://www.europlanproject.eu/Content?folder=1.
- 9.
Further information on European Reference Networks for Rare Diseases available at http://ec.europa.eu/health/rare_diseases/european_reference_networks/erf/index_en.htm.
- 10.
The EUROPLAN National Conferences are aimed at fostering the development of comprehensive National Plans or Strategies for Rare Diseases addressing the unmet needs of patients living with a rare disease and integrating current European policies and recommendations in this field.
- 11.
- 12.
Available here: http://health.gov.ie/wp-content/uploads/2014/07/EditedFile.pdf.
- 13.
The EUCERD was charged with aiding the EC with the preparation and implementation of Community activities in the field of RDs, in cooperation and consultation with the specialised bodies in MS, the relevant European authorities and other relevant stakeholders. In 2014, the EUCERD was replaced by the European Commission Expert Group on Rare Diseases. More information available at: http://www.eucerd.eu/.
- 14.
EUCERD recommendations available at: http://www.eucerd.eu/?page_id=13.
- 15.
Recommendations available at http://ec.europa.eu/health/rare_diseases/docs/eucerd_centresexpertise_en.pdf
- 16.
Recommendations available at http://www.eucerd.eu/?post_type=document&p=2207.
- 17.
More information available at: http://ec.europa.eu/health/rare_diseases/docs/recommendations_socialservices_policies_en.pdf.
- 18.
More information at: www.innovcare.eu.
- 19.
- 20.
- 21.
Map and list of services available at: http://www.eurordis.org/specialised-social-services.
- 22.
More information at: www.edubolirare.ro.
- 23.
More information available at: http://download.eurordis.org/documents/pdf/sss/3-RCS-Agrenska-Gunilla-Jaeger.pdf.
- 24.
More information at: www.innovcare.eu.
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Castro, R. et al. (2017). Bridging the Gap between Health and Social Care for Rare Diseases: Key Issues and Innovative Solutions. In: Posada de la Paz, M., Taruscio, D., Groft, S. (eds) Rare Diseases Epidemiology: Update and Overview. Advances in Experimental Medicine and Biology, vol 1031. Springer, Cham. https://doi.org/10.1007/978-3-319-67144-4_32
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