Abstract
The following chapter focuses on presenting rare diseases (RDs) and the needs of people affected by these, as well as providing context on the provision of integrated care to this client group in Europe.
A disease is defined as rare when it affects less than 1 in 2000 people in Europe. RD are often serious, chronic, progressive, degenerative and associated with comorbidities. As a result, they frequently cause severe impairments and substantially affect life expectancy.
The unmet needs of people with a RD and their families affect their dignity, autonomy and other fundamental human rights expressed in the Universal Declaration of Human Rights and in the United Nations Convention on the Rights of Persons with Disabilities.
People living with a RD face significant challenges accessing school, employment, leisure, transport, adapted housing and bank credit, to name a few. Patients and families are therefore psychologically, socially, economically and culturally vulnerable.
Care for people living with a RD needs to be holistic, multidisciplinary and specifically tailored to patients’ unique needs. This implies the provision of a set of health, social and support services.
Therefore, the provision of integrated care is essential for RDs: to ensure the transfer of the scarce expertise and information available, to support the coordination and communication between care providers, to optimise resources, to integrate RD specificities into mainstream services, to improve care and care pathways, and to reduce the burden for patients and families.
Various methods can be used to promote integrated care for RDs including: Centres of Expertise and one-stopshop services for RDs; case managers; care pathways and standards of care; individual care plans; networking and training programmes for service providers; the integration of RDs into national functionality assessment systems; and eHealth.
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Notes
- 1.
EURORDISCare Survey to 12,000 patients from 23 countries (2002–2008) - 1/3 of the respondents reported that a patient in their family had to reduce or stop professional activities due to the disease; an additional 1/3 reported that one member in the family had to reduce or stop professional activities to take care of a relative with a RD; almost 1/3 of the respondents required assistance from a social worker in the 12 months preceding the survey. More than 1/3 of those reported they met the social work with difficulties or did not meet one at all; 1/5 of the respondents had to move house, usually to relocate to a home better adapted to their health needs.
- 2.
Study performed in Spain (2009) - patients mentioned that they generally need support for: domestic life (46%), transport (42%), personal mobility (40%), leisure activities (37%), educational/professional activities (39%) and self-care (32%). Only 1 in 10 did not need any sort of assistance in daily life; 27% spend income in adapted transport, 23% in personal assistance and 9% in adapting their house;, patients reported to feel discriminated in: leisure activities (32%), education (30%) and daily activities (29%); labour market (32%) either when searching for a job (17%) or at their current job (15%).
- 3.
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/.
- 4.
EUCERD recommendations available at: http://www.eucerd.eu/?page_id=13.
- 5.
More information available at: http://www.europlanproject.eu/Content?folder=1.
- 6.
Centres of Expertise (CEs) 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.
- 7.
European Reference Networks (ERNs) for RDs should serve as research and knowledge centres, updating and contributing to the latest scientific findings, treating patients from other MS and ensuring the availability of subsequent treatment facilities where necessary. More information available at: http://ec.europa.eu/health/rare_diseases/european_reference_networks/erf/index_en.htm.
- 8.
More information available at: http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:L:2011:088:0045:0065:EN:PDF.
- 9.
The CEGRD replaced the EUCERD in 2014 in supporting the EC with the preparation and implementation of Community activities in the field of RDs. More information available at: http://ec.europa.eu/health/rare_diseases/expert_group/index_en.htm.
- 10.
Final document to be published in 2016 at http://ec.europa.eu/health/rare_diseases/publications/index_en.htm#anchor0.
- 11.
More information available at: http://www.socialstyrelsen.se/Lists/Artikelkatalog/attachments/8407/2009-126-188_2009126188.pdf.
- 12.
More information available at: http://bit.ly/1M2noBZ.
- 13.
A national network of expertise is being set up for some RDs to provide integrated care. Moreover, the Dutch Genetic Alliance hosts a website to disseminate RD quality standards. More information available at: www.zorgstandaarden.net.
- 14.
More information available at: http://bit.ly/1WPmhgt [Dutch].
- 15.
- 16.
- 17.
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.
- 18.
Map and list of services available at: http://www.eurordis.org/specialised-social-services.
- 19.
NoRo has organised a network of videoconference facilities with 7 Romanian medical universities which aims at facilitating direct access to information/good practices and meetings between patients and professionals.
- 20.
More information at: www.edubolirare.ro.
- 21.
More information available at: http://download.eurordis.org/documents/pdf/sss/3-RCS-Agrenska-Gunilla-Jaeger.pdf.
- 22.
More information available at: http://www.rare-diseases.eu/wp-content/uploads/2014/05/0602_Myriam_de_CHALENDAR.pdf.
- 23.
More information at: www.innovcare.eu.
- 24.
More information at: http://www.ec.europa.eu/social/BlobServlet?docId=6140&langId=en.
- 25.
Study done by the Department of Economics of the University of Gothenburg on Ågrenska: the approach offered by the centre saves money compared to ordinary programmes for disabled children. Moreover, a family requires less support from social services when having access to the centre. There is a nearly three-fold decrease in costs when the child is correctly diagnosed and accesses proper treatment, compared to a child who is improperly diagnosed and treated through ordinary programmes. The savings appear to result from the reduction of costs with seeking emergency help, visiting specialists and sick leaves.
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Castro, R. et al. (2017). Rare Diseases. In: Amelung, V., Stein, V., Goodwin, N., Balicer, R., Nolte, E., Suter, E. (eds) Handbook Integrated Care. Springer, Cham. https://doi.org/10.1007/978-3-319-56103-5_25
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