CARING FOR THE PERSON WITH RARE DISEASE. INTEGRATIVE REVIEW
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Abstract
Objective: To know the current state of development of the thematic area of the caregiver of people with rare diseases and to determine the trends and challenges for nursing research. Methods: Descriptive integrated review, in which a search was carried out in Ovid, Oxford University Press, Sage, Science Direct databases, limited between the years 2009 - 2020, using MeSH and DeCS terms such as rare diseases, family caregiving, care, caregivers, likewise, crossbreeding with some specific diseases was sought (Duchenne syndrome, Lysosomal Storage disease, Genetic disorders, MECP2 duplication syndrome). Results: Three themes emerge from the data tabulation: Emotional responses that refer to how caregivers can experience various emotions. The need for clear and complete professional information: the authors report needing clear information about the disease and the last topic called strategies to face the situation of caring as that circumstance in which caregivers, especially of children, generate strategies to face the care of people with rare diseases. Conclusions: Research shows how caregivers of people with a rare disease face great multidimensional challenges, with few studies specifically describing how the main caregiver cares. Therefore, initiating research into the phenomenon will allow Nursing to build, from professional fields, its progress and increase, in the future, the guarantee of excellence in the care of people with a rare disease that limits mobility, thus achieving becomes evident in interdisciplinary teams.
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References
Ministerio de Salud y Protección Social. Ley 1392 de 2010. Disponible en: https://www.minsalud.gov.co/sites/rid/Lists/BibliotecaDigital/RIDE/DE/DIJ/ley-1392-de-2010.pdf (Ley 1392 de 2010/Ley 1438 de 2011). Colombia
Chaves, A. P. El problema social y de salud de las Enfermedades Raras: transitando de la invisibilidad a la visibilidad. Federación Colombiana de Enfermedades Raras. 2011. Disponible en: http://www.fecoer.org/
Weng, H., Niu, D., Turale, S., Tsao, L., Shih, F., Yamamoto-Mitani, N., . . . Shih, F. Family caregiver distress with children having rare genetic disorders: A qualitative study involving russell-silver syndrome in taiwan. Journal of Clinical Nursing, 2011; 21(1-2):160-169. DOI: https://doi.org/10.1111/j.1365-2702.2010.03583.x.
Bettle, A. M. E., & Latimer, M. A. Maternal coping and adaptation: A case study examination of chronic sorrow in caring for an adolescent with a progressive neurodegenerative disease. Can J of Neurosci Nurs. 2009; 31(4): 15-21. PMID: 20085116.
Samson, A., Tomiak, E., Dimillo, J., Lavigne, R., Miles, S., Choquette, M., P. Chakraborty, Jacob, P. The lived experience of hope among parents of a child with Duchenne muscular dystrophy: Perceiving the human being beyond the illness. Chronic Illness. 2009; 5(2): 103-114. DOI: https://doi.org/10.1177/1742395309104343. PMID: 19474233.
Federación Española de Enfermedades Raras. Estudio sobre situación de Necesidades Sociosanitarias de las personas con Enfermedades Raras en España - Estudio ENSERio. Madrid: FEDER (Federación Española de Enfermedades Raras). 2009. Disponible en: https://sid-inico.usal.es/idocs/F8/FDO24871/necesidades-sociosanitarias.pdf
Baumbusch, J., Mayer, S., & Sloan-Yip, I. Alone in a crowd? Parents of children with rare diseases’ experiences of navigating the healthcare system. J Genet Couns. 2019;28: 80–90. DOI: https://doi.org/10.1007/s10897-018-0294-9
Lim, F., Downs, J., Li, J., Bao, X.-H., & Leonard, H. Caring for a child with severe intellectual disability in China: The example of Rett syndrome. Disability & Rehabilitation, 2013; 35(4): 343–351. Disponible en: http://search.ebscohost.com.ez.unisabana.edu.co/login.aspx?direct=true&db=s3h&AN=85019334&lang=es&site=ehost-live&scope=site
Pelentsov LJ, Fielder AL, Esterman AJ. The Supportive Care Needs of Parents With a Child With a Rare Disease: A Qualitative Descriptive Study. J Pediatr Nurs. 2015;8(4):475-491. DOI: https://doi.org/10.1016/j.dhjo.2015.03.009
Guirao-Goris,J.A; Olmedo Salas,A; Ferrer Ferrandis, E. El artículo de revisión. Revista Iberoamericana de Enfermeria Comunitaria, 2008;1(1):6. Disponible en: http://revista.enfermeriacomunitaria.org/articuloCompleto.php?ID=7.
Glenn, A. D. Using online health communication to manage chronic sorrow: Mothers of children with rare diseases speak. Journal of Pediatric Nursing. 2015; 30(1), 17-24. DOI: https://doi.org/10.1016/j.pedn.2014.09.013
Aubeeluck, A. V., Buchanan, H., Stupple, E. J., & N. 'All the burden on all the carers': Exploring quality of life with family caregivers of Huntington’s disease patients. Quality of Life Research. 2012; 21(8): 1425-1435. DOI: https://doi.org/10.1007/s11136-011-0062-x
Bose, M., Mahadevan, M., Schules, D. R., Coleman, R. K., Gawron, K. M., Gamble, M. B., … Rizzo, W. B. Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study. Molecular Genetics and Metabolism Reports. 2019; 19: 100459. DOI: https://doi.org/10.1016/j.ymgmr.2019.100459
Zierhut, H. A., & Bartels, D. M. Waiting for the next shoe to drop: The experience of parents of children with fanconi anemia. Journal of Genetic Counseling, 2012; 21(1): 45-58. DOI: https://doi.org/10.1007/s10897-011-9394-5.
Von der Lippe, C., Diesen, P. S., & Feragen, K. B. Living with a rare disorder: a systematic review of the qualitative literature. Molecular Genetics & Genomic Medicine, 2017; 5(6): 758–773. DOI: https://doi.org/10.1002/mgg3.315
Kerr, A. M., & Haas, S. M. Parental uncertainty in illness: managing uncertainty surrounding an "orphan" illness. Journal Of Pediatric Nursing, 2014; 29(5): 393-400. DOI: https://doi.org/0.1016/j.pedn.2014.01.008.
Lewis, C., Skirton, H., & Jones, R. Living without a diagnosis: The parental experience. Genetic Testing and Molecular Biomarkers, 2010;14(6): 807-815. DOI: https://doi.org/10.1089/gtmb.2010.0061.
Khangura, S. D., Tingley, K., Chakraborty, P., Coyle, D., Kronick, J. B., Laberge, A., . . . Potter, B. K. Child and family experiences with inborn errors of metabolism: A qualitative interview study with representatives of patient groups. Journal of Inherited Metabolic Disease. 2016; 39(1): 139-147. DOI: https://doi.org/10.1007/s10545-015-9881-1
Dilger, H., Leissner, L., Bosanska, L., Lampe, C., & Plöckinger, U. Illness perception and clinical treatment experiences in patients with M. maroteaux-lamy (mucopolysaccharidosis type VI) and a Turkish migration background in Germany. PLoS One. 2013; 8(6): e66804. DOI: https://doi.org/10.1371/journal.pone.0066804
Anderson, M., Elliott, E. J., & Zurynski, Y. A. Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet Journal Of Rare Diseases. 2013; 8(1): 22. DOI: https://doi.org/10.1186/1750-1172-8-22
de Ru, M. H., Bouwman, M. G., Wijburg, F. A., & van Zwieten, M. C. Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening. Molecular genetics and metabolism. 2012; 107(3): 501-507. DOI: https://doi.org/10.1016/j.ymgme.2012.08.008.
Tluczek, A., McKechnie, A. C., & Lynam, P. A. Modified Uncertainty Theory and Parents’ Perspectives about Equivocal Diagnostic Results for Cystic Fibrosis. Qualitative Health Research. 2010; 20(2): 209–223. DOI: https://doi.org/10.1177/1049732309356285
Rowland, E., & Metcalfe, A. Communicating inherited genetic risk between parent and child: A meta-thematic synthesis. Disability and Health Journal, 2013; 50(6): 870-880. DOI: https://doi.org/10.1016/j.ijnurstu.2012.09.002
Wierzba, J., Mazurkiewicz-Bełdzińska, M., Jabłońska-Brudło, J., Potaż, P., & Banach, P. Challenges of caring for a patient with a rare disease--as demonstrated by cornelia de lange syndrome. Developmental Period Medicine. 2015; 19(4): 511-515. DOI: https://doi.org/10.1016/j.ijnurstu.2012.09.002
Morris, M., Glass, M., Wessels, T., Kromberg, J. G., & R. Mothers' experiences of genetic counselling in Johannesburg, south Africa. Journal of Genetic Counseling. 2015;24(1): 158-168. DOI: https://doi.org/10.1007/s10897-014-9748-x
Silibello G, Vizziello P, Gallucci M, Selicorni A, Milani D, Ajmone PF, Rigamonti C, De Stefano S, Bedeschi MF, Lalatta F. Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy. Ital J Pediatr. 2016;42(1):76. DOI: https://doi.org/10.1186/s13052-016-0285-0
Magliano L, Patalano M, Sagliocchi A, et al. I have got something positive out of this situation: psychological benefits of caregiving in relatives of young people with muscular dystrophy. Journal Of Neurology. 2014; 261(1): 188-195.
DOI: https://doi.org/10.1007/s00415-013-7176-8
Coulson NS, Greenwood N. Families affected by childhood cancer: an analysis of the provision of social support within online support groups. Child Care Health Dev. 2012;38(6):870-877. DOI: https://doi.org/10.1111/j.1365-2214.2011.01316.x
Bose, M., Mahadevan, M., Schules, D. R., Coleman, R. K., Gawron, K. M., Gamble, M. B., … Rizzo, W. B. Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study. Molecular Genetics and Metabolism Reports. 2019; 19: 100459. DOI: https://doi.org/10.1016/j.ymgmr.2019.100459
Webb, C.L. Parents’ perspectives on coping with Duchenne muscular dystrophy. Child: Care, Health and Development. 2005; 31: 385-396. DOI: https://doi.org/10.1111/j.1365-2214.2005.00518.x
Freedman, R., Sahhar, M., Curnow, L., Lee, J., & Peters, H. Receiving enzyme replacement therapy for a lysosomal storage disorder: a preliminary exploration of the experiences of young patients and their families. Journal of genetic counseling. 2013; 22(4): 517–532. DOI: https://doi.org/10.1007/s10897-013-9579-1
Kimura M, Yamazaki Y. The Lived Experience of Mothers of Multiple Children With Intellectual Disabilities. Qualitative Health Research. 2013;23(10):1307-1319. DOI: https://doi.org/10.1177/1049732313504828
Samson, A., Tomiak, E., Dimillo, J., Lavigne, R., Miles, S., Choquette, M., Chakraborty, P., & Jacob, P. The lived experience of hope among parents of a child with Duchenne muscular dystrophy: perceiving the human being beyond the illness. Chronic illness. 2009; 5(2): 103–114. DOI: https://doi.org/10.1177/1742395309104343
Kesselheim, A. S., McGraw, S., Thompson, L., O'Keefe, K., & Gagne, J. J. Development and use of new therapeutics for rare diseases: views from patients, caregivers, and advocates. The patient. 2015; 8(1): 75–84. DOI: https://doi.org/10.1007/s40271-014-0096-6
Malcolm, C., Gibson, F., Adams, S., Anderson, G., & Forbat, L. A relational understanding of sibling experiences of children with rare life-limiting conditions: findings from a qualitative study. Journal of child health care : for professionals working with children in the hospital and community. 2014; 18(3): 230–240. DOI: https://doi.org/10.1177/1367493513485825
Griffith, G. M., Hastings, R. P., Nash, S., Petalas, M., Oliver, C., Howlin, P., Moss, J., Petty, J., & Tunnicliffe, P. You have to sit and explain it all, and explain yourself. Mothers' experiences of support services for their offspring with a rare genetic intellectual disability syndrome. Journal of genetic counseling. 2011; 20(2), 165–177. DOI: https://doi.org/10.1007/s10897-010-9339-4
Tluczek A, Chevalier McKechnie A, Lynam PA. When the cystic fibrosis label does not fit: a modified uncertainty theory. Qual Health Res. 2010;20(2):209-223. DOI: https://doi.org/10.1177/1049732309356285. PMID: 20065305; PMCID: PMC2864145.
Pelentsov, L. J., Laws, T. A., & Esterman, A. J. The supportive care needs of parents caring for a child with a rare disease: A scoping review. Disability and health journal. 2015; 8(4): 475–491. DOI: https://doi.org/10.1016/j.dhjo.2015.03.009
Graungaard, A. H., & Skov, L. Why do we need a diagnosis? A qualitative study of parents' experiences, coping and needs, when the newborn child is severely disabled. Child: Care, Health and Development. 2007; 33(3): 296–307. DOI: https://doi.org/10.1111/j.1365-2214.2006.00666.x
Campbell, H., Singh, R. H., Hall, E., & Ali, N. Caregiver Quality of Life with Tyrosinemia Type 1. Journal of genetic counseling. 2018; 27(3): 723–731. DOI: https://doi.org/10.1007/s10897-017-0157-9
Dias, A. G., Daher, A., Barrera Ortiz, L., Carreño-Moreno, S., Hafez H, S. R., Jansen, A. M., Rico-Restrepo, M., & Chaparro-Diaz, L. Rarecare: A policy perspective on the burden of rare diseases on caregivers in Latin America. Frontiers in public health. 2023;11 1127713. DOI: https://doi.org/10.3389/fpubh.2023.1127713
Čagalj, D., Buljevac, M. y Leutar, Z. Ser madre de un niño con síndrome de prader-willi: experiencias de acceso y uso de apoyo formal en croacia. Escanear. J. Discapacidad. Res. 2018; 20: 228–237. DOI: 10.16993/sjdr.13
Rentz AM, Skalicky AM, Pashos CL, Liu Z, Magestro M, Pelletier CL, Prestifilippo JA, Nakagawa J, Frost MD, Dunn DW, Wheless JW. Caring for Children With Tuberous Sclerosis Complex: What Is the Physical and Mental Health Impact on Caregivers? J Child Neurol. 2015;30(12):1574-1581. DOI: https://doi.org/10.1177/0883073815575364
Landfeldt E, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmüller H, Bushby K. Quantifying the burden of caregiving in Duchenne muscular dystrophy. J Neurol. 2016;263(5):906-915. DOI: https://doi.org/10.1007/s00415-016-8080-9