Study of the Well-being of People with Rare Diseases in the Region of Murcia
DOI:
https://doi.org/10.65598/rps.5880Keywords:
Quality of life, Patients, People with disabilities, Diseases, Social research, HealthAbstract
This research aims to analyze Health-Related Quality of Life (HRQoL) from the perspective of individuals diagnosed with a Rare Disease (RD) in the Region of Murcia, as well as from the standpoint of their representative patient organizations. Adopting a biopsychosocial approach, HRQoL is understood as a multidimensional construct encompassing physical, emotional, and social well-being—dimensions that are particularly relevant in highly vulnerable and diverse populations.
The methodology integrates both quantitative and qualitative techniques to capture objective indicators and subjective perceptions. A total of 74 questionnaires were administered to patients using the standardized instruments SF-36 and EQ-5D, which assess physical functioning, mental health, pain, mobility, and autonomy. These measurements were complemented by semi-structured interviews with leaders of social organizations, allowing for the exploration of emotional experiences, perceived social barriers, and coping strategies. This methodological design enabled the identification of links between diversity, emotional well-being, and quality of life, providing a comprehensive understanding of the issue.
The study offers a detailed characterization of individuals affected by RDs in the Region of Murcia, deepening insight into their lived experiences as described both by the patients themselves and by organizational leaders. The results reveal a high prevalence of pain/discomfort and mobility limitations, with 62% of respondents reporting emotional distress.
Downloads
References
Boettcher, J., Denecke, J., Barkmann, C., & Wiegand-Grefe, S. (2020). Quality of life and mental health in mothers and fathers caring for children and adolescents with rare diseases requiring long-term mechanical ventilation. International Journal of Environmental Research and Public Health, 17(23), 8975. https://doi.org/10.3390/ijerph17238975
Comisión Europea. (2008, 11 de noviembre). Propuesta de Recomendación del Consejo sobre una acción europea en el ámbito de las enfermedades raras (COM (2008) 726 final). Bruselas. Recuperado de https://eur-lex.europa.eu/legal-content/ES/TXT/PDF/?uri=CELEX:52008PC0726
Consejería de Salud de la Comunidad Autónoma de la Región de Murcia. (2023). Sistema de Información sobre las Enfermedades Raras (SIER). Servicio Murciano de Salud. Recuperado de: https://www.murciasalud.es/web/planificacion/sistema-de-informacion-sobre-enfermedades-raras-de-la-region-de-murcia
Consejería de Salud de la Comunidad Autónoma de la Región de Murcia. (2018). Plan Integral de Enfermedades Raras de la Región de Murcia. Consejería de Salud. https://murciasocial.carm.es/-/plan-integral-de-enfermedades-raras-de-la-region-de-murc-1
Esteban-Bueno, G., Ruano-García, M., & Motero-Vazquez, I. (2015). The quality of life in the relatives of Wolfram’s syndrome patients. European Journal of Investigation in Health Psychology and Education, 5(1), 89-97. https://doi.org/10.1989/ejihpe.v1i1.93
Federación Española de Enfermedades Raras. (2018). Estudio sobre la situación de necesidades sociosanitarias de las personas con enfermedades raras en España. FEDER.
García Bazaga, M. Á., Antonaya Rojas, C., & Ramos Aceitero, J. M. (2009). Calidad de vida relacionada con la salud en pacientes con enfermedades raras. Dirección General de Salud Pública, Servicio Extremeño de Salud, Consejería de Sanidad y Dependencia, Junta de Extremadura.
Kishnani, P.S., Martos-Moreno, G.Á., Linglart, A. et al. Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry. Orphanet J Rare Dis 19, 109 (2024). https://doi.org/10.1186/s13023-024-03048-6
Koçkaya, G., Oguzhan, G., Ökçün, S., & Kurnaz, M. (2023). Out-of-pocket healthcare expenditures of Turkish households living with rare diseases. Frontiers in Public Health, 11, 1051851. https://doi.org/10.3389/fpubh.2023.1051851
Martínez-Calvo, J., Guerra, J.-M. ., & Esteban-Bueno, G. (2024). Relaciones afectivas y calidad de vida en el ámbito de las enfermedades raras: una revisión sistemática. Apuntes De Psicología, 42(1). https://doi.org/10.55414/ap.v42i1.1536
Martínez-Hernández, E., & Pastor-Seller, E. (2022). Study on the quality of life of siblings of people affected by rare diseases. Prisma Social, 36, 261-289. https://revistaprismasocial.es/article/view/4452
Michalik, J. (2012). Rare diseases and the quality of life of caregivers. Social Welfare Interdisciplinary Approach, 2(1), 8-17.
Naciones Unidas. (1948). Declaración Universal de los Derechos Humanos. https://www.un.org/es/about-us/universal-declaration-of-human-rights
Olofsson, S., Löfvendahl, S., Widén, J., Rudebeck, M., Lindgren, P., Stepien, K. M., … Jacobson, L. (2024). Societal costs and quality of life associated with arginase 1 deficiency in a European setting – a multinational, cross-sectional survey. Journal of Medical Economics, 27(1), 1146–1156. https://doi.org/10.1080/13696998.2024.2400856
Patni, N., Chard, C., Araújo-Vilar, D. et al. Diagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey. Orphanet J Rare Dis 19, 263 (2024). https://doi.org/10.1186/s13023-024-03245-3
Posada-de-la-Paz, M., Martín-Arribas, C., Ramírez, A., Villaverde, A., & Abaitua, I. (2008). Rare diseases. Concept, epidemiology and state of the question in Spain. Anales del Sistema Sanitario de Navarra, 31(2), 9-20. https://scielo.isciii.es/pdf/asisna/v31s2/original2.pdf
Seco Sauces, M. O., & Ruiz Callado, R. (2016). Las enfermedades raras en España. Un enfoque social. Revista Prisma Social, (17), 373–395. https://revistaprismasocial.es/article/view/1289
Tumienė, B., Juozapavičiūtė, A., & Andriukaitis, V. (2024). Rare diseases: Still on the fringes of universal health coverage in Europe. The Lancet Regional Health – Europe, 37, 100783. https://doi.org/10.1016/j.lanepe.2023.100783
Urzúa, A., & Caqueo-Urízar, A. (2012). Calidad de vida: Una revisión teórica del concepto. Terapia psicológica, 30(1), 61-71. https://www.scielo.cl/pdf/terpsicol/v30n1/art06.pdf
Ware, J. E., & Sherbourne, C. D. (1992). The MOS 36-Item Short-Form Health Survey (SF-36): I. Conceptual framework and item selection. Medical Care, 30(6), 473–483. https://doi.org/10.1097/00005650-199206000-00002
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2025 Authors retain copyright and transfer to the journal the right of first publication and publishing rights
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Those authors who publish in this journal accept the following terms:
-
Authors retain copyright.
-
Authors transfer to the journal the right of first publication. The journal also owns the publishing rights.
-
All published contents are governed by an Attribution-NoDerivatives 4.0 International License.
Access the informative version and legal text of the license. By virtue of this, third parties are allowed to use what is published as long as they mention the authorship of the work and the first publication in this journal. If you transform the material, you may not distribute the modified work. -
Authors may make other independent and additional contractual arrangements for non-exclusive distribution of the version of the article published in this journal (e.g., inclusion in an institutional repository or publication in a book) as long as they clearly indicate that the work was first published in this journal.
- Authors are allowed and recommended to publish their work on the Internet (for example on institutional and personal websites), following the publication of, and referencing the journal, as this could lead to constructive exchanges and a more extensive and quick circulation of published works (see The Effect of Open Access).
