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.
References
Aronson, J. K. (2006). Rare diseases and orphan drugs. British Journal of Clinical Pharmacology, 61(3), 243–245. doi:10.1111/j.1365-2125.2006.02617.x. Accessed October 7, 2015, from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1885017/
Brains for Brain Foundation. (2014). Dr Horst Schmidt Klinik. Healthcare transition of adolescent rare disease patients (Position Paper 2014). Accessed September 18, 2015, from http://www.innermed.eu/uploads/assets/6_BfB_Transition_Paper_Final_03022015.pdf
Byskov Holm, B., & Jensen, L. (2014). Only the strong survive—Said by a mother navigating the welfare systems. Rare Diseases Denmark. Accessed September 18, 2015, from http://www.rare-diseases.eu/wp-content/uploads/2013/08/12_t1.pdf
de Chalendar, M., Bee, S., Olry, A., & Rath, A. (2014). Appraisal of disability in rare diseases with the ICF-CY: The Orphanet disability project. Archives of Disease in Childhood 99(Suppl 2), A14–A15.
Conway, S. et al. (2014). European cystic fibrosis society standards of care: Framework for the cystic fibrosis centre. Journal of Cystic Fibrosis, 13(1):3–22. doi: 10.1016/j.jcf.2014.03.009. Accessed September 22, 2015, from http://www.cysticfibrosisjournal.com/article/S1569-1993%2814%2900084-8/pdf
Council of the European Union. (2009). Council recommendation of 8 June 2009 on an action in the field of rare diseases (2009/C 151/02). Accessed September 18, 2015, from http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2009:151:0007:0010:EN:PDF
Dammann, B. (2015). Does an individual plan make better services for children with rare disorders? International Journal of Integrated Care (Annual Conf Suppl. URN:NBN:NL:UI:10-1-117075). Accessed September 18, 2015, from http://www.ijic.org/index.php/ijic/article/view/2067/2864
EUCERD (European Union Committee of Expert on Rare Diseases). (2011, October 24). EUCERD recommendations on quality criteria for centres of expertise for rare diseases in member states. Accessed September 21, 2015, from http://ec.europa.eu/health/rare_diseases/docs/eucerd_centresexpertise_en.pdf
EUCERD (European Union Committee of Expert on Rare Diseases). (2013, January 31). EUCERD recommendations rare disease European reference networks (RD ERNs). Accessed September 21, 2015, from http://www.eucerd.eu/?post_type=document&p=2207
EUCERD Joint Action. (2012). Rare diseases: Addressing the need for specialised social services and integration into social policies. Accessed October 7, 2015, from http://www.eurordis.org/sites/default/files/paper-social-policies-services-eja-wp6.pdf
EUCERD Joint Action. (2014a). Guiding principles on training for social services providers—Examples of training programmes. Accessed October 7, 2015, from http://www.eurordis.org/sites/default/files/examples-training-for-social-services-providers.pdf
EUCERD Joint Action. (2014b). Report of the EUCERD joint action workshop on guiding principles for social care in rare diseases. Accessed October 7, 2015, from http://www.eurordis.org/sites/default/files/eja-wp6-workshop-report-guiding-principles-social-care.pdf
EURORDIS. (2009). The voice of 12000 patients. Experiences and expectations of rare disease patients on diagnosis and care in Europe. Paris: EURORDIS. Accessed October 7, 2015, from http://www.eurordis.org/IMG/pdf/voice_12000_patients/EURORDISCARE_FULLBOOKr.pdf
EURORDIS. (2013a). Policy fact sheet—Centres of expertise. Accessed October 7, 2015, from http://www.eurordis.org/sites/default/files/publications/factsheet_Centres_Expertise.pdf
EURORDIS. (2013b). Policy fact sheet—Resource centres for rare diseases. Accessed September 21, 2015, from http://www.eurordis.org/sites/default/files/publications/fact-sheet-resource-centres.pdf
FEDER (Federación Española de Enfermedades Raras). (2009). Study on the situation of social-sanitary needs of people with rare diseases in Spain—ENSERio.
French Social & Economic Council. (2001). Cinq mille maladies rares, le choc de la génétique : constat, perspectives et possibilités d'évolution. Avis et rapports du Conseil économique et social. Journal officiel de la République française. Accessed September 18, 2015, from http://www.lecese.fr/sites/default/files/pdf/Avis/2001/01092516.pdf
Grut, L., & Kvam, M. H. (2013). Facing ignorance: People with rare disorders and their experiences with public health and welfare services. Scandinavian Journal of Disability Research, 15(1). doi:10.1080/15017419.2011.645870.
Guillem, P., Cans, C., Robert-Gnansia, E., Aymé, S., & Jouk, P. S. (2008). Rare diseases in disabled children: An epidemiological survey. Archives of Disease in Childhood, 93(2), 115–118. doi:10.1136/adc.2006.104455. Published Online on 17 October 2007.
INNOVCare. (2015). Project funded by the European Commission, DG employment, social affairs and inclusion, under grant agreement VS/2015/0249. http://www.innovcare.eu/
Klinga, C. M., Hansson, J., Hasson, H., & Andreen-Sachs, M. (2015). Collective leadership as a management arrangement of integrated health and social care. International Journal of Integrated Care. Annual Conf Suppl. URN:NBN:NL:UI:10-1-117016. Accessed September 18, 2015, from http://www.ijic.org/index.php/ijic/article/view/2091/2888
Le Cam, Y. (2015). Patients need faster, cheaper treatment. The Financial Times. Retrieved January 15, 2016, from http://www.ft.com/intl/cms/s/0/6a298724-2951-11e5-acfbcbd2e1c81cca.html#axzz3xKRjSaF1
McGarvey, B., & Har, C. (2008). An investigation into the social support needs of families who experience rare disorders on the island of Ireland. RehabCare. Accessed September 21, 2015, from http://www.rehab.ie/about/PDFS/July2008/RehabCare_RD_Report.pdf
Olauson, A. (2002). The Agrenska centre. A socioeconomic case study of rare diseases. PharmacoEconomics, 20(Suppl 3), 73–75.
Orphanet. (2015, May). List of rare diseases and synonyms listed in alphabetical order. Orphanet Report Series, Rare Diseases Collection. Accessed September 18, 2015, from http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf
Orphanet: An Online Database of Rare Diseases and Orphan Drugs. Copyright, INSERM 1997. Last update October 2015. What is an orphan drug? Accessed September 18, 2015, from http://www.orpha.net/consor/cgi-bin/Education_AboutOrphanDrugs.php?lng=EN
Rare Diseases Task Force. (2008). Health indicators for Rare diseases: State of the art and Future directions. Accessed September 18, 2015, from http://www.eucerd.eu/?post_type=document&p=1207
Reich, O., Rapold, R., & Flatscher-Toni, M. (2012). An empirical investigation of the efficiency effects of integrated care models in Switzerland. International Journal of Integrated Care, 12. Accessed September 18, 2015, from http://www.ijic.org/index.php/ijic/article/view/685
Schieppati, A., Henter, J. I., Daina, E., & Aperia, A. (2008). Why rare diseases are an important medical and social issue. Lancet, 371, 2039–2041. doi:10.1016/S0140-6736(08)60872-7.
Tozzi, A. E., Mingarelli, A., Agricola, E., Gonfiantini, M., Pandolfi, E., Carloni, E., Gesualdo, F., & Dallapiccola, B. (2013). The internet user profile of Italian families of patients with rare diseases: A web survey. Orphanet Journal of Rare Diseases ; 8:76. doi:10.1186/1750-1172-8-76. Accessed October 7, 2015, from http://www.ojrd.com/content/8/1/76
United Nations Convention on the Rights of Persons with Disabilities. Adopted in December 2016. Accessed October 7, 2015, from http://www.un.org/disabilities/convention/conventionfull.shtml
Vajda, I., Hendriks, S., & Oosterwijk, C. (2012). Standards of care for rare diseases: A Dutch case of patient involvement. Poster Presentation. In: European Conference on Rare Diseases & Orphan Products.
Van Nispen, R. M. A., Rijken, P. M., & Heijmans, M. J. W. M. (2003, May). Leven met een zeldzame chronische aandoening: Ervaringen van patiënten in de zorg en het dagelijks leven. NIVEL—Nederlands Instituut voor onderzoek van de gezondheidszorg. ISBN 90-69056-14-3. Accessed September 18, 2015, from http://www.nivel.nl/sites/default/files/bestanden/zeldzame-aandoeningen.pdf
World Health Organisation.(2013). Priority medicines for Europe and the World 2013 Update. Accessed October 9, 2015, from http://www.who.int/medicines/areas/priority_medicines/Ch6_19Rare.pdf
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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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