Integrative Literature Review on the Lived Experiences of Parents of Children with a Rare Disease

Rare diseases have a substantial impact not only on affected individuals but also on their families, particularly parents who assume primary caregiving roles. Despite increasing attention to rare conditions, parents' experiences remain fragmented across the literature. This integrative review aimed to synthesise existing evidence on the experiences and multidimensional impact of caring for a child with a rare disease on parents.

An integrative review was conducted following Whittemore and Knafl's methodology and reported according to PRISMA 2020 guidelines. A systematic search was performed across MEDLINE, CINAHL, PsycINFO, PsycARTICLES, and Scopus from 1 November 2025 to 31 January 2026. Twenty-two studies (qualitative, quantitative, mixed-methods, and reviews) were included. Data were analysed using thematic synthesis.

Three interrelated themes were identified: (1) the diagnostic journey, characterised by prolonged uncertainty, fragmented care, and the pivotal role of communication; (2) multidimensional caregiving burden, encompassing emotional, social, economic, and physical impacts, with notable gender differences; and (3) adaptive trajectories, involving dynamic coping processes, parental upskilling, and meaning-making. Across studies, caregiving burden emerged as a cumulative and system-influenced phenomenon, while adaptation was found to coexist with ongoing uncertainty rather than representing a linear resolution.

Caring for a child with a rare disease profoundly affects parents across multiple domains. The findings highlight the need for integrated, family-centred care models, improved diagnostic communication, and sustained psychosocial support.

Nurses play a key role in recognising caregiver burden, supporting adaptive processes, and promoting effective communication throughout the diagnostic and care trajectory.