A unique collaborative model providing supportive and self-advocacy tools to the rare disease community
The National Ehlers-Danlos Syndromes (EDS) service is a highly specialised NHS commissioned service for diagnosing and supporting people with a rare, monogenic type of EDS. The service consists of a team of medical specialists and genetic counsellors. The EDS service has strong ties with national an...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-01-01
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| Series: | Rare |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2950008724000097 |
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| author | Juliette M. Harris Jacqui Fish Jared Griffin Gemma Hasnaoui Clare Stacey Neeti Ghali Fleur S. van Dijk |
| author_facet | Juliette M. Harris Jacqui Fish Jared Griffin Gemma Hasnaoui Clare Stacey Neeti Ghali Fleur S. van Dijk |
| author_sort | Juliette M. Harris |
| collection | DOAJ |
| description | The National Ehlers-Danlos Syndromes (EDS) service is a highly specialised NHS commissioned service for diagnosing and supporting people with a rare, monogenic type of EDS. The service consists of a team of medical specialists and genetic counsellors. The EDS service has strong ties with national and international EDS charities, and together they participate in working and strategy groups alongside patients and carers. Acquired funding for research means that the service contributes to international knowledge regarding diagnosis and management of rare, monogenic EDS types. As a result of being a highly specialised service, there are multiple points of contact with patients, providing frequent opportunities for feedback. Patient data, surveys and collaborative working have enabled the development not only of extensive information resources and self-advocacy tools for patients, but also guidelines for health care professionals on the best ways to support their rare disease patients. The main challenges faced by patients affected by rare disease and the importance of self-advocacy are discussed, with the highly specialised National EDS service and the patients seen in this service as an example. The recommendations from this unique collaborative model include eight specific domains of self-advocacy: increasing knowledge of rare disease, taking care of mental well-being, taking care of physical well-being including routine care, the development of good working relationships between patients and health care professionals, information accessibility, emergency preparedness, taking part in education and outreach, and involvement in research and feedback opportunities. The service aims to be an example of patient-centred innovation and progress, providing a patient-focused supportive model that can be adapted by the rare disease community and other health care professionals. |
| format | Article |
| id | doaj-art-9e6c9bdc390c493e8aa71d5b8ab426d1 |
| institution | Kabale University |
| issn | 2950-0087 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Rare |
| spelling | doaj-art-9e6c9bdc390c493e8aa71d5b8ab426d12024-12-18T08:55:33ZengElsevierRare2950-00872024-01-012100026A unique collaborative model providing supportive and self-advocacy tools to the rare disease communityJuliette M. Harris0Jacqui Fish1Jared Griffin2Gemma Hasnaoui3Clare Stacey4Neeti Ghali5Fleur S. van Dijk6National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, London HA1 3UJ, UK; Corresponding author.National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, London HA1 3UJ, UK; Annabelle's Challenge Vascular EDS Charity, Walshaw Park House, Walshaw Road, Bury BL8 1PY, UKAnnabelle's Challenge Vascular EDS Charity, Walshaw Park House, Walshaw Road, Bury BL8 1PY, UKAnnabelle's Challenge Vascular EDS Charity, Walshaw Park House, Walshaw Road, Bury BL8 1PY, UKNational Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, London HA1 3UJ, UK; Annabelle's Challenge Vascular EDS Charity, Walshaw Park House, Walshaw Road, Bury BL8 1PY, UKNational Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, London HA1 3UJ, UKNational Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, London HA1 3UJ, UKThe National Ehlers-Danlos Syndromes (EDS) service is a highly specialised NHS commissioned service for diagnosing and supporting people with a rare, monogenic type of EDS. The service consists of a team of medical specialists and genetic counsellors. The EDS service has strong ties with national and international EDS charities, and together they participate in working and strategy groups alongside patients and carers. Acquired funding for research means that the service contributes to international knowledge regarding diagnosis and management of rare, monogenic EDS types. As a result of being a highly specialised service, there are multiple points of contact with patients, providing frequent opportunities for feedback. Patient data, surveys and collaborative working have enabled the development not only of extensive information resources and self-advocacy tools for patients, but also guidelines for health care professionals on the best ways to support their rare disease patients. The main challenges faced by patients affected by rare disease and the importance of self-advocacy are discussed, with the highly specialised National EDS service and the patients seen in this service as an example. The recommendations from this unique collaborative model include eight specific domains of self-advocacy: increasing knowledge of rare disease, taking care of mental well-being, taking care of physical well-being including routine care, the development of good working relationships between patients and health care professionals, information accessibility, emergency preparedness, taking part in education and outreach, and involvement in research and feedback opportunities. The service aims to be an example of patient-centred innovation and progress, providing a patient-focused supportive model that can be adapted by the rare disease community and other health care professionals.http://www.sciencedirect.com/science/article/pii/S2950008724000097Ehlers Danlos syndrome (rare monogenic types)Specialised servicesPatient self-advocacyRare genetic disease |
| spellingShingle | Juliette M. Harris Jacqui Fish Jared Griffin Gemma Hasnaoui Clare Stacey Neeti Ghali Fleur S. van Dijk A unique collaborative model providing supportive and self-advocacy tools to the rare disease community Rare Ehlers Danlos syndrome (rare monogenic types) Specialised services Patient self-advocacy Rare genetic disease |
| title | A unique collaborative model providing supportive and self-advocacy tools to the rare disease community |
| title_full | A unique collaborative model providing supportive and self-advocacy tools to the rare disease community |
| title_fullStr | A unique collaborative model providing supportive and self-advocacy tools to the rare disease community |
| title_full_unstemmed | A unique collaborative model providing supportive and self-advocacy tools to the rare disease community |
| title_short | A unique collaborative model providing supportive and self-advocacy tools to the rare disease community |
| title_sort | unique collaborative model providing supportive and self advocacy tools to the rare disease community |
| topic | Ehlers Danlos syndrome (rare monogenic types) Specialised services Patient self-advocacy Rare genetic disease |
| url | http://www.sciencedirect.com/science/article/pii/S2950008724000097 |
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