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

Author

Listed:
  • 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
    Directorate General for Public Health and Addictions, Regional Ministry of Health, Valencian Region, 46020 Valencia, Spain
    Department of Preventive Medicine and Public Health, Food Sciences, Toxicology and Forensic Medicine, University of Valencia, 46010 Valencia, Spain)

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.

Suggested Citation

  • Cristina Gimenez-Lozano & Lucía Páramo-Rodríguez & Clara Cavero-Carbonell & Francisca Corpas-Burgos & Aurora López-Maside & Sandra Guardiola-Vilarroig & Oscar Zurriaga, 2022. "Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain," IJERPH, MDPI, vol. 19(16), pages 1-16, August.
    • Handle: RePEc:gam:jijerp:v:19:y:2022:i:16:p:10366-:d:893063
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    References listed on IDEAS

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    1. Valentina Orlando & Sara Mucherino & Ilaria Guarino & Francesca Guerriero & Ugo Trama & Enrica Menditto, 2020. "Gender Differences in Medication Use: A Drug Utilization Study Based on Real World Data," IJERPH, MDPI, vol. 17(11), pages 1-10, June.
    2. Sabina Gainotti & Deborah Mascalzoni & Virginie Bros-Facer & Carlo Petrini & Giovanna Floridia & Marco Roos & Marco Salvatore & Domenica Taruscio, 2018. "Meeting Patients’ Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues," IJERPH, MDPI, vol. 15(10), pages 1-16, September.
    3. Johannes Boettcher & Michael Boettcher & Silke Wiegand-Grefe & Holger Zapf, 2021. "Being the Pillar for Children with Rare Diseases—A Systematic Review on Parental Quality of Life," IJERPH, MDPI, vol. 18(9), pages 1-13, May.
    4. Xiang Yan & Shenjing He & Dong Dong, 2020. "Determining How Far an Adult Rare Disease Patient Needs to Travel for a Definitive Diagnosis: A Cross-Sectional Examination of the 2018 National Rare Disease Survey in China," IJERPH, MDPI, vol. 17(5), pages 1-18, March.
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    Cited by:

    1. Manuela Priolo & Marco Tartaglia, 2023. "The Right to Ask, the Need to Answer—When Patients Meet Research: How to Cope with Time," IJERPH, MDPI, vol. 20(5), pages 1-10, March.

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