Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain

Cristina Gimenez-Lozano, Lucía Páramo-Rodríguez (), Clara Cavero-Carbonell, Francisca Corpas-Burgos, Aurora López-Maside, Sandra Guardiola-Vilarroig and Oscar Zurriaga
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Cristina Gimenez-Lozano: Preventive Medicine and Public Health, Hospital Universitario Doctor Peset, 46017 Valencia, Spain
Lucía Páramo-Rodríguez: Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, 46020 Valencia, Spain
Clara Cavero-Carbonell: Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, 46020 Valencia, Spain
Francisca Corpas-Burgos: Economic, Demographic and Social Statistics Service, Valencian Institute of Statistics, Valencian Region, 46020 Valencia, Spain
Aurora López-Maside: Directorate General for Public Health and Addictions, Regional Ministry of Health, Valencian Region, 46020 Valencia, Spain
Sandra Guardiola-Vilarroig: Directorate General for Public Health and Addictions, Regional Ministry of Health, Valencian Region, 46020 Valencia, Spain
Oscar Zurriaga: Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, 46020 Valencia, Spain

IJERPH, 2022, vol. 19, issue 16, 1-16

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.

Keywords: rare diseases; diagnostic delay; unmet needs; primary care; Spain (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
References: View references in EconPapers View complete reference list from CitEc
Citations: View citations in EconPapers (1)

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