Coping with the challenges of caregiving: A qualitative exploration of the experiences of family caregivers of children with rare diseases in South Africa

Rare diseases are a group of chronic conditions with low individual prevalence. These conditions predominantly affect children and severely impact their lives. Oftentimes, children with rare diseases receive care from family caregivers, who experience several challenges in their roles and regularly struggle to cope with caregiving demands, with consequences for their physical and psychological well-being. Therefore, enhanced understanding of caregivers' unique challenges and coping is required. This phenomenologically situated, exploratory qualitative study explored the caregiving experiences of 10 South African parents (aged 22-54) whose children have rare diseases and receive care at a public hospital in Cape Town, South Africa. These parents were recruited using a convenience strategy and interviewed thereafter. Interview transcripts were analyzed using reflexive thematic analysis to develop themes representing patterns of shared meaning across participants' narratives. Seven themes were developed, representing diverse dimensions of caregiving. First, uncertainty was a challenge that some addressed by seeking knowledge. Second, experiences in healthcare settings reflected how healthcare providers' knowledge and communication shaped caregivers' sense of support or marginalization. Third, caregivers described the all-encompassing nature of meeting children's holistic needs. Fourth, acceptance, frequently aided by normalization, was challenging yet central to coping. Fifth, caregivers' coping was shaped by structural inequities and contextual constraints. Sixth, religious beliefs, positivity, and love for their children ascribed meaning to caregiving, enabling perseverance amid adversity. Finally, caregiving was experienced as both depleting and inevitable; participants described significant physical and psychological tolls yet expressed a sense of duty that compelled them to continue. When interpreted alongside international literature, these themes suggest that while caregivers in South Africa negotiate similar meaning patterns to those reported elsewhere, their experiences are further shaped by context-specific limitations in support and healthcare infrastructure. It is vital that family caregivers receive improved support and consideration in South Africa.

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Publication Details

Journal
Journal of Genetic Counseling
Published
2026-04-01
DOI
https://doi.org/10.1002/jgc4.70205
Primary Topic
Genomics and Rare Diseases
Type
article
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article

Coping with the challenges of caregiving: A qualitative exploration of the experiences of family caregivers of children with rare diseases in South Africa

Chrisma Pretorius, Marianne Gush, Shahida Moosa, Jodie van Niekerk
Journal of Genetic Counseling
Genomics and Rare Diseases
article

Coping with the challenges of caregiving: A qualitative exploration of the experiences of family caregivers of children with rare diseases in South Africa

Chrisma Pretorius, Marianne Gush, Shahida Moosa, Jodie van Niekerk
article en

Abstract

Rare diseases are a group of chronic conditions with low individual prevalence. These conditions predominantly affect children and severely impact their lives. Oftentimes, children with rare diseases receive care from family caregivers, who experience several challenges in their roles and regularly struggle to cope with caregiving demands, with consequences for their physical and psychological well-being. Therefore, enhanced understanding of caregivers' unique challenges and coping is required. This phenomenologically situated, exploratory qualitative study explored the caregiving experiences of 10 South African parents (aged 22-54) whose children have rare diseases and receive care at a public hospital in Cape Town, South Africa. These parents were recruited using a convenience strategy and interviewed thereafter. Interview transcripts were analyzed using reflexive thematic analysis to develop themes representing patterns of shared meaning across participants' narratives. Seven themes were developed, representing diverse dimensions of caregiving. First, uncertainty was a challenge that some addressed by seeking knowledge. Second, experiences in healthcare settings reflected how healthcare providers' knowledge and communication shaped caregivers' sense of support or marginalization. Third, caregivers described the all-encompassing nature of meeting children's holistic needs. Fourth, acceptance, frequently aided by normalization, was challenging yet central to coping. Fifth, caregivers' coping was shaped by structural inequities and contextual constraints. Sixth, religious beliefs, positivity, and love for their children ascribed meaning to caregiving, enabling perseverance amid adversity. Finally, caregiving was experienced as both depleting and inevitable; participants described significant physical and psychological tolls yet expressed a sense of duty that compelled them to continue. When interpreted alongside international literature, these themes suggest that while caregivers in South Africa negotiate similar meaning patterns to those reported elsewhere, their experiences are further shaped by context-specific limitations in support and healthcare infrastructure. It is vital that family caregivers receive improved support and consideration in South Africa.

Journal of Genetic CounselingVol. 35(2)
Stellenbosch University (ZA), Tygerberg Hospital (ZA)
Openalex Percentile: Top 18%
Genomics and Rare Diseases
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