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Children with a rare congenital genetic disorder: a systematic review of parent experiences
Charlotte von der Lippe1, Ingrid Neteland2, Kristin Billaud Feragen2
1Centre for Rare Disorders, Rikshospitalet, Oslo University Hospital, P.B. 4950, 0424, Nydalen, Oslo, Norway. uxhelc@ous-hf.no.
Insights
Caring for a child with a rare genetic disorder presents unique challenges for parents. This review synthesizes their experiences, highlighting common struggles and areas for improved healthcare support.
Area of Science:
- Genetics
- Pediatrics
- Psychology
Background:
- Parental caregiving for chronically ill children is stressful.
- Rare genetic disorders amplify caregiving demands due to diagnostic rarity.
- Limited synthesized knowledge exists on parents' experiences with rare genetic disorders.
Purpose of the Study:
- To synthesize and provide a holistic view of parents' experiences with children diagnosed with rare genetic disorders.
- To address the lack of generalized knowledge in this specific caregiving context.
Main Methods:
- Systematic review of qualitative studies.
- Included studies published between 2000 and 2020.
- Focused on parents of children with rare genetic disorders.
Main Results:
- Synthesized findings from 33 qualitative studies.
- Identified three main themes: healthcare experiences, responsibilities/challenges, and positive experience factors.
- Parents share common challenges despite condition-specific differences.
Conclusions:
- Coordinated and holistic follow-up care is essential for children with rare genetic disorders.
- Prioritize international research collaboration, diagnostics, and accessible scientific information.
- Improve support for healthcare professionals and laypeople caring for these children.
Background:
Caring for a child with a chronic disease may be demanding and stressful. When a child has a rare condition, the impact of care on parents is amplified due to the rarity of the diagnosis. In order to address the lack of generalized and synthesized knowledge regarding parents' experiences of having a child with a rare genetic disorder, and give a holistic picture of these experiences, a systematic review of the available qualitative research was conducted.
Methods:
We performed a systematic review, including qualitative studies on parents of children with rare genetic disorders, published between 2000 and 2020.
Results:
The review included 33 qualitative studies. Findings were synthesized and categorized according to three main themes: Parents' experiences with health care, Responsibilities and challenges, and Factors promoting positive experiences in parents. The findings demonstrate that parents of children with rare genetic disorders share many common challenges, despite evident differences across conditions.
Conclusion:
Coordinated care, and a more holistic approach in the follow up of children with rare genetic disorders is needed. International collaboration on research, diagnostics, producing scientific correct and understandable information available for health care professionals and lay people should be prioritized.
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