Publicação
Experiences of families living with congenital disorders of glycosylation : a qualitative study
| Resumo: | Family caregivers of patients with rare health conditions often experience health, financial, social and emotional consequences due to the burden of care. Congenital disorders of glycosylation (CDG) are a group of rare, metabolic and genetic diseases due to defects in the glycosylation process. Cognitive and physical impairments are inherent to the broad spectrum of symptoms that portray this multysistemic disease, which does not have an effective cure yet. This study aims to explore and to better understand the lived experience and process of adaptation of family members of CDG patients. Interviews through Skype were conducted with 40 family members (26 mothers, 7 fathers, 5 siblings and 2 grandmothers), from 11 different countries. Participants were related to a child, adolescent or adult patient. Interviews underlined topics related to the lived experience during the diagnosis period, and during the daily life management. A thematic analysis helped to identify the main categories in the data transcribed from the recorded interviews. Participants reported several emotional reactions when receiving the diagnosis, and factors that eased and/or complicated its acceptance. We identified multiple categories related to the burden experienced by the caregivers of CDG patients, to the psychological impact of this disease and to the concerns and coping strategies most used to deal with the disease’s daily challenges and demands. Changes, concerns, demands, resources, and coping strategies varied between participants and their specific situation, however there were much similarities in the reports. Positive experiences and outcomes from living with CDG were also reported, as well as a message for the families of recently diagnosed CDG patients. This study highlights the burden of care experienced by family members living with CDG patients, calling attention for what can be improved within the health sector to better assist them, and how psico-education can enhance their coping strategies so to reduce the stress often experienced. |
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| Autores principais: | Cardão, Carolina Lopes |
| Assunto: | Doenças raras Coping Cuidadores Integração social Teses de mestrado - 2017 |
| Ano: | 2017 |
| País: | Portugal |
| Tipo de documento: | dissertação de mestrado |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Universidade de Lisboa |
| Idioma: | inglês |
| Origem: | Repositório da Universidade de Lisboa |
| Resumo: | Family caregivers of patients with rare health conditions often experience health, financial, social and emotional consequences due to the burden of care. Congenital disorders of glycosylation (CDG) are a group of rare, metabolic and genetic diseases due to defects in the glycosylation process. Cognitive and physical impairments are inherent to the broad spectrum of symptoms that portray this multysistemic disease, which does not have an effective cure yet. This study aims to explore and to better understand the lived experience and process of adaptation of family members of CDG patients. Interviews through Skype were conducted with 40 family members (26 mothers, 7 fathers, 5 siblings and 2 grandmothers), from 11 different countries. Participants were related to a child, adolescent or adult patient. Interviews underlined topics related to the lived experience during the diagnosis period, and during the daily life management. A thematic analysis helped to identify the main categories in the data transcribed from the recorded interviews. Participants reported several emotional reactions when receiving the diagnosis, and factors that eased and/or complicated its acceptance. We identified multiple categories related to the burden experienced by the caregivers of CDG patients, to the psychological impact of this disease and to the concerns and coping strategies most used to deal with the disease’s daily challenges and demands. Changes, concerns, demands, resources, and coping strategies varied between participants and their specific situation, however there were much similarities in the reports. Positive experiences and outcomes from living with CDG were also reported, as well as a message for the families of recently diagnosed CDG patients. This study highlights the burden of care experienced by family members living with CDG patients, calling attention for what can be improved within the health sector to better assist them, and how psico-education can enhance their coping strategies so to reduce the stress often experienced. |
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