7 research outputs found
Diseñar una conferencia accesible y equitativa y la evaluación de las barreras a la inclusión de la investigación para las comunidades de enfermedades raras
Get PDF© 2024 The AuthorsIntroduction: The United Kingdom Rare Diseases Framework, published in 2021, addresses the lack of diversity in rare disease research, particularly in clinical trials, due to intersecting issues related to rare disease symptoms and health inequalities. The framework outlines the government's commitment to improving the lives of the 3.5 million people living with rare conditions in the United Kingdom.
Objective: The primary objective is to advance equality, diversity, and inclusion in research by developing innovative methods to engage with communities, establish trust, and enhance the participation and voices of underrepresented and underserved communities.
Methods: The conference was held in May 2023, bringing together voices with lived experiences from rare and diverse communities to meet and discuss with established researchers, policy influencers and advocates. The evaluation design was developed using the Program Logic Model and utilised a conference evaluation form on barriers to inclusion.
Results: The Rare Disease Community identifies disability as the primary obstacle to inclusion. Social Care and Public Health Communities and Clinical Research Communities identified a need for more cultural competency. The Diverse Community selected psychosocial issues, and the Academic Community identified funding as the most significant barrier.
Conclusions: The Community of Practice workshops showed the variety of lived experiences and potential barriers people confront for inclusion in research. Listening to individual viewpoints was crucial to creating or repairing community trust. The Academic Community felt that research funders and ethics review boards must adapt their institutional practices to include financial resources for outreach and participation in research design
Quality of life and social support in rare genetic skin conditions: A mixed methods study
No full textAim
The aim of this study was to explore the relationship between quality of life (QOL) and social support in adults living with rare genetic skin conditions, specifically Epidermolysis Bullosa (EB) Ehlers-Danlos Syndrome (EDS) and related conditions.
Background
Measuring QOL has become an increasingly important method of evaluating the effectiveness of health and social care interventions. Living with the effects of a rare genetic condition has a profound impact on QOL for the individual and families.
Design
Methodological triangulation was adopted, in a sequential mixed methods exploratory design. Three stages were included: a literature review, online survey (n=31), and semi structured interviews (n=8).
Outcomes
The literature review concluded that professionals should adopt a biopsychosocial approach to the management of rare diseases. The online survey found a positive correlation between QOL and social support. The role of the family was a prominent theme. Most participants indicated that emotional support was provided by family carers, and tangible (practical) support was the highest rated support need.
Conclusion
This study demonstrated was that health and social care practitioners, policy makers and commissioners have to make room for QOL perspectives that come from the patient. These are wounded storytellers whose narratives are subjective but are spoken through illness. Their collective experiences can influence the direction of their diagnostic journey and must be front and center of any rare disease implementation plans in a post COVID era
A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red flags of undiagnosed rare disease
No full textAbstract Background The ‘diagnostic odyssey’ is a common challenge faced by patients living with rare diseases and poses a significant burden for patients, their families and carers, and the healthcare system. The diagnosis of rare diseases in clinical settings is challenging, with patients typically experiencing a multitude of unnecessary tests and procedures. To improve diagnosis of rare disease, clinicians require evidence-based guidance on when their patient may be presenting with a rare disease. This study aims to identify common experiences amongst patients with rare diseases, to inform a series of ‘red flags’ that can aid diagnosis of rare diseases in non-specialist settings. A questionnaire was developed by Medics for Rare Diseases, informed by the experiences of clinicians, rare disease patients and patient advocates, and was shared with UK-based rare disease patient groups. Study participants were engaged via social media platforms, blogs and email newsletters of three umbrella rare disease organisations. The questionnaire, comprising 22 questions, was designed to identify typical experiences relating to physical and psychosocial manifestations and presentation of disease, patient interactions with healthcare providers, and family history. Results Questionnaire responses were received from 79 different rare disease patient groups and the common experiences identified were used to inform seven red flags of rare disease: multi-system involvement (3 or more); genetic inheritance pattern; continued presentation throughout childhood and adulthood; difficulties at school, especially relating to absences, difficulty participating in physical education and experiences of bullying or social isolation; multiple specialist referrals; extended period with unexplained symptoms; and misdiagnosis. In light of the red flags identified, recommendations for primary care and education settings have been proposed, focusing on the need for holistic assessment and awareness of both physical and psychosocial factors. Conclusions This study identified key commonalities experienced by patients with rare disease across physical and psychosocial domains, in addition to understanding patients’ history and experiences with healthcare providers. These findings could be used to develop a clinical decision‑making tool to support non-specialist practitioners to consider when their patient may have an undiagnosed rare condition, which may minimise the challenges of the ‘diagnostic odyssey’ and improve the patient experience
Editorial: Equality, diversity and inclusive research for diverse rare disease communities.
Get PDFFrom PubMed via Jisc Publications RouterHistory: received 2023-08-30, accepted 2023-09-05Publication status: epublis
Editorial: Equality, diversity and inclusive research for diverse rare disease communities
No full textFrom Frontiers via Jisc Publications RouterHistory: collection 2023, received 2023-08-30, accepted 2023-09-05, epub 2023-09-19Peer reviewed: TrueAcknowledgements: The editors wish to express gratitude to all contributors for their manuscripts. The topic editors also thank the reviewers for their help in creating an exciting and high-quality Research Topic.Publication status: Publishe
Additional file 1 of A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red flags of undiagnosed rare disease
No full textSupplementary Material 1
Epidermolysis bullosa: how social support affects quality of life
No full textMeasuring quality of life has become an increasingly important method of evaluating the effect of health and social care interventions. The rare genetic condition epidermolysis bullosa is known to have a deep social impact on people’s quality of life, but most research into the condition is focused on its biomedical aspects and attempts to find a cure. A literature review has explored the relationship between social support and quality of life in people with epidermolysis bullosa. It concludes that, while more research is needed, social support does have a positive impact on quality of life and that professionals should adopt a bio-psychosocial approach to management
