ArticleOrphanet journal of rare diseases2022
Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed.
- Psychological symptoms in individuals with Spinal Muscular Atrophy (SMA) and their caregivers - results from a nation-wide study in Germany.Orphanet journal of rare diseases · 2026Article
- The current state of Spanish language resources for patients in Alabama with rare genetic disease: qualitative expert stakeholder interviews.Journal of community genetics · 2026Article
- Health service access and delivery for people living with rare disorders: a scoping review.Orphanet journal of rare diseases · 2026Article
- Comment on "Postpartum well-being in hemophilia carriers and women with von Willebrand disease".Research and practice in thrombosis and haemostasis · 2026Article
- Approaches used to model patient and carer health-related quality of life in economic models of rare disease treatments in NICE appraisals.Health and quality of life outcomes · 2026Review
- 'If You Don't Fight for Yourself, No One Else Will': An In-Depth Interpretative Phenomenological Analysis of Rare Disorder Care Advocacy in Aotearoa New Zealand.Health expectations : an international journal of public participation in health care and health policy · 2026Article
- Coping with the challenges of caregiving: A qualitative exploration of the experiences of family caregivers of children with rare diseases in South Africa.Journal of genetic counseling · 2026Article
- Assessing healthcare experiences and barriers to care among individuals with ectodermal dysplasia.Orphanet journal of rare diseases · 2026Article
- Improving Lifelong Comprehensive Care Coordination in Nephropathic Cystinosis: Multidisciplinary Perspectives.Kidney international reports · 2026Review
- Urban veterinary accessibility and community well-being in Japan: a cross-sectional analysis using regional indicators.The Journal of veterinary medical science · 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
- Deciphering the clinical and genetic spectrum of early-onset inborn errors of immunity in a Brazilian pediatric cohort.Frontiers in immunology · 2026Article
- Association of self-stigma, impulsivity, and insomnia with anxiety and depression in patients with Kallmann syndrome.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2025Article
- Rare disease education in medical schools: patient-centered and innovative strategies.Orphanet journal of rare diseases · 2025Article
- The Patient-Reported Outcomes Measurement Information System perspective of adults with long-standing atypical hemolytic uremic syndrome.Research and practice in thrombosis and haemostasis · 2025Article
- "It's a Godsend": Parental experiences of genomic testing for paediatric inborn errors of immunity.European journal of human genetics : EJHG · 2025Article
- Criteria to evaluate unmet health-related needs of persons living with rare diseases and their caregivers: rapid literature review and stakeholder consultations.Orphanet journal of rare diseases · 2025Review
- Association Between the Parenting Competence and Quality of Life of Family Caregivers of Children Aged 0-3 Years: Cross-Sectional Study.JMIR pediatrics and parenting · 2025Article
- Exploring network relations between healthcare access and utilisation in individuals with rare diseases.Public health in practice (Oxford, England) · 2025Article
- Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway.BMJ open · 2025Observational
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7 authors.
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Abstract
backgroundResearch in a variety of countries indicates that healthcare access and health-related quality of life are challenged among people with a variety of rare diseases (RDs). However, there has been little systematic research on the experiences of children and adults with RDs in the American healthcare system that identifies commonalities across RDs. This research aimed to: (1) Describe demographics, disease characteristics, diagnostic experiences, access to healthcare, knowledge about RDs, support from healthcare professionals, and patient satisfaction among people with RDs and their caregivers; (2) examine predictors of patient satisfaction among adults with RDs; (3) compare health-related quality of life and stigma to US population norms; 4) examine predictors of anxiety and depression among adults and children with RDs.
resultsThis large-scale survey included (n = 1128) adults with RD or parents or caregivers of children with RDs representing 344 different RDs. About one third of participants waited four or more years for a diagnosis and misdiagnosis was common. A subset of participants reported experiencing insurance-related delays or denials for tests, treatments, specialists, or services. Approximately half of participants felt their medical and social support was sufficient, yet less than a third had sufficient dental and psychological support. Patients were generally neither satisfied or dissatisfied with their healthcare providers. Major predictors of satisfaction were lower stigma, lower anxiety, shorter diagnostic odyssey, greater physical function, and less pain interference. Adults and children with RDs had significantly poorer health-related quality of life and stigma in all domains compared to US norms. Predictors of both anxiety and depression were greater stigma/poor peer relationships, fatigue, sleep disturbance, limited ability to participate in social roles, and unstable disease course.
conclusionsPeople in the U.S. with RDs have poor health-related quality of life and high stigma. These factors are related to patient satisfaction and healthcare access, including diagnostic delays and misdiagnosis. Advocacy work is needed in order to improve healthcare access and ultimately health-related quality of life for children and adults with RDs.
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