ArticleBMJ open2019
Perceived burden in dealing with different rare diseases: a qualitative focus group study.
Article in BMJ open, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 4 of them syntheses that pooled it.
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Who cites it
54 citing papers in PubMed, 4 syntheses or guidelines pooled it, 95 citations in OpenAlex.
- A systematic review of studies that estimated the burden of chronic non-communicable rare diseases using disability-adjusted life years.Orphanet journal of rare diseases · 2024Pooled it
- Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis.Orphanet journal of rare diseases · 2023Pooled it
- Perception of Social and Educational Quality of Life of Minors Diagnosed with Rare Diseases: A Systematic Review and Meta-Analysis.International journal of environmental research and public health · 2023Pooled it
- Adults' experiences of living with pulmonary hypertension: a thematic synthesis of qualitative studies.BMJ open · 2020Pooled it
- Telemedical communication patterns in myasthenia gravis in a remote monitoring study.Neurological research and practice · 2026Article
- Exploring Parents' Values in Healthcare Decision-Making for Rare Genetic Neurodevelopmental Disorders: A Qualitative Study to Inform Guideline Development.Journal of intellectual disability research : JIDR · 2026Article
- For Me, Quality of Life Is When I Get Through the Day Without Thinking: I Won't Make It: A Participatory Qualitative Study of Health-Related Quality of Life in Rare Liver Diseases.Health expectations : an international journal of public participation in health care and health policy · 2026Article
- Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development.Journal of intellectual disability research : JIDR · 2026Article
- Exploring the Intersection of Rare Diseases and Mental Health Within the Diagnostic Odyssey: A Narrative Review and Thematic Synthesis.Nursing open · 2026Review
- Health care, social, educational, and employment needs of individuals affected by rare diseases and their families in Catalonia, Spain.Orphanet journal of rare diseases · 2026Article
- Levels and correlates of pandemic anxiety in people living with rare diseases: a cross-sectional analysis using a structural equation model.Orphanet journal of rare diseases · 2026Article
- Optimizing recruitment in rare disease research: a cross-sectional online study evaluating sampling strategies for hard-to-reach populations.Orphanet journal of rare diseases · 2026Article
- Quality of life among children and young adults with rare diseases. A parental perspective.European journal of pediatrics · 2025Article
- Patient-Reported Disease Presentation, Interventions, and Outcomes in United States Pregnancies Affected by Alloimmunization at Risk of Hemolytic Disease of the Fetus and Newborn.Children (Basel, Switzerland) · 2025Article
- Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study.Orphanet journal of rare diseases · 2025Article
- The role of public health in rare diseases: hemophilia as an example.Frontiers in public health · 2025Review
- Factors Affecting Engagement in Screening Clinics; Exploring the Experiences of Patients with Rare Endocrine Gene Disorders.Journal of patient experience · 2025Article
- Latent profiles and predictors of barriers to care in Swiss children and adolescents with rare diseases.Journal of pediatric psychology · 2024Article
- Perceptions of patients and caregivers toward the management of rare disease in Malaysia: a qualitative research study.International journal of technology assessment in health care · 2024Article
- Assessing the lived experiences of females with phenylketonuria in their health management.Molecular genetics and metabolism reports · 2024Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesThere are more than 6000 heterogeneous rare diseases and little is known about shared experiences of affected individuals in everyday life and healthcare. Objective of this study was to explore perceived burden of patients with rare chronic diseases and identify commonalities and differences in the experiences of patients with four heterogeneous conditions.
designA qualitative focus group study.
settingIn four separate and diagnostically homogeneous focus groups, we asked patients about the perceived burden of living with their rare disease. The focus groups took place at a university medical centre in Germany.
participantsIndividuals with neurofibromatosis type 1 (n=4), primary sclerosing cholangitis (n=5), pulmonary arterial hypertension (n=4) and Marfan syndrome (n=5).
resultsWe identified five main themes: medical problems, psychological burden, problems with the healthcare system, constraints and interpersonal problems. While medical problems differed widely between the diagnostic groups, patients with different conditions independently reported many common problems including psychological burden, constraints in professional, personal and daily life, stigmatisation and others lacking understanding. Shared problems pertaining to the healthcare system seem related to the rarity of the conditions (eg, limited access to adequate care, lack of knowledge).
conclusionsDespite clinical heterogeneity of rare diseases, affected individuals have many common experiences. Some of these experiences may resemble the burden of living with a chronic disease. However, patients reported aspects, which seem to be specific for rare chronic diseases. Generic interventions targeting shared burdens among patients with different diseases could provide adequate treatment in light of finite healthcare resources.
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