ArticleInternational journal of environmental research and public health2022
Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain.
Article in International journal of environmental research and public health, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Capturing Real-World Rare Disease Patient Journeys: Are Current Methodologies Sufficient for Informed Healthcare Decisions?Journal of evaluation in clinical practice · 2025Pooled it
- Repercussions of Diagnostic Delay in Rare Diseases.Journal of genetic counseling · 2026Review
- Health service access and delivery for people living with rare disorders: a scoping review.Orphanet journal of rare diseases · 2026Article
- Barriers to access to health services for people with orphan-rare diseases in Huila, ColombiaBiomedica : revista del Instituto Nacional de Salud · 2026Article
- Predictors of quality of life in parents of children with rare diseases: a tertiary care center cross-sectional study in Saudi Arabia.Frontiers in public health · 2026Article
- Unmet health-related needs of heritable arrhythmogenic cardiomyopathy carriers in Belgium: The UR-HEART survey study.Heart rhythm O2 · 2025Article
- Parents as First Responders: Experiences of Emergency Care in Children with Nemaline Myopathy: A Qualitative Study.Nursing reports (Pavia, Italy) · 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
- Article
- Caregiver-Reported Economic Impacts of Pediatric Rare Diseases-A Scoping Review.Healthcare (Basel, Switzerland) · 2024Article
- Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort.Kidney international reports · 2024Article
- Epidemiology and Healthcare Utilization in Pediatric Multiple Sclerosis and Neuromyelitis Optica: A Nationwide Population-Based Study in South Korea (2016-2020).Children (Basel, Switzerland) · 2024Article
- An Overview of Advances in Rare Cancer Diagnosis and Treatment.International journal of molecular sciences · 2024Review
- Mortality, morbidity and educational outcomes in children of consanguineous parents in the Born in Bradford cohort.Wellcome open research · 2024Article
- Barriers to and Facilitators of Providing Care for Adolescents Suffering from Rare Diseases: A Mixed Systematic Review.Pediatric reports · 2023Review
- The utilisation of primary health care system concepts positively impacts the assistance of patients with rare diseases despite limited knowledge and experience by health care professionals: A qualitative synopsis of the evidence including approximately 78 000 individuals.Journal of global health · 2023Review
- Self-Reported Medication Adherence Measured with Morisky Scales in Rare Disease Patients: A Systematic Review and Meta-Analysis.Healthcare (Basel, Switzerland) · 2023Review
- The Right to Ask, the Need to Answer-When Patients Meet Research: How to Cope with Time.International journal of environmental research and public health · 2023Article
- The economic impact of living with a rare disease for children and their families: a scoping review protocol.HRB open research · 2023Article
- Psychosocial impact at the time of a rare disease diagnosis.PloS one · 2023Article
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Authors and funding
7 authors.
Funding
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Abstract
Families with rare diseases (RDs) have unmet needs that are often overlooked by health professionals. Describing these needs and the impact of the disease could improve their medical care. A total of 163 surveys were obtained from patients visiting primary care centres in the Valencian Region (Spain), during 2015-2017, with a confirmed or suspected diagnosis of RD. Of the 84.7% with a confirmed diagnosis, 50.4% had a diagnostic delay exceeding one year, and it was more prevalent among adults (62.2%). Families with paediatric patients were in a worse economic situation, with lower incomes and higher monthly disease-related expenses (€300 on average). These expenses were incurred by 66.5% of families and were mainly for medication (40.3%). Among them, 58.5% reported not being able to afford adjuvant therapies. The disease had an impact on 73.1% of families, especially on their routine and emotional state. Expenses, needs, and impacts were more frequent among families of patients with a history of hospitalisation or deterioration. Patients with delayed diagnosis had a higher consumption of drugs prior to diagnosis. People affected by RDs in the Valencian Region need therapies to improve their autonomy and emotional state. Health professionals should be aware of these needs.
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