Carer burden in rare inherited diseases: a literature review and conceptual model

BACKGROUND: Carers of people living with rare diseases report heavy burden and a plethora of unmet needs. A previous parental supportive care needs framework has described the needs of parents of children living with rare diseases, but it is not specific to rare inherited diseases (RIDs) and does not include non-parental carers. We conducted a targeted literature review to: (1) ascertain the burden/supportive care needs of informal carers of people living with RIDs, (2) understand the burden/supportive care needs unique to these carers, and (3) develop a conceptual model based on the findings. METHODS: A targeted literature review searching Embase and Medline between 2000 and 2020 was conducted to identify journal articles describing the burden/supportive care needs of all types of informal carers of people living with RIDs. Thematic analysis was conducted on the articles to develop a conceptual model. RESULTS: After screening and quality appraisal, 31 journal articles were analysed, representing 70 RIDs (including bleeding, bone, central nervous system, multisystem and inherited metabolic disorders). Most articles (74%) focused on parent carer samples. The conceptual model has three overarching domains, encompassing 13 themes: (1) Living with Rare Inherited Disease (Being a Carrier of Rare Disease, Carer Perceptions, Disease Severity); (2) Carer Needs/Burden (Social/Community, Well-being, Information, Practical); and (3) Carer Coping Strategies (Acceptance, Support Systems, Gratitude and Hope, Faith, Quest for Knowledge, Establish a Routine). Our conceptual model uniquely describes carers’ transmission guilt, clinically relevant depression and anxiety, worry about future family members living with the RID, and challenging decisions about having more children. Carers often implemented psychological, structural, practical, and social coping strategies to manage their burdens. CONCLUSIONS: The identified burdens underscore the need for the provision of information and social support to these carers. Future research should focus on the (1) potential mediators/moderators of carers’ burden, (2) needs of carers within the wider family including siblings and grandparents, (3) needs of carers of adults living with RIDs, including spouses and children, and (4) biopsychosocial effect on carers living with a RID themselves. Our conceptual model offers a potential tool for healthcare professionals to utilise during the provision of support to carers.