Parents' experiences of diagnosis and specialist care of children's rare birthmarks.

OBJECTIVES

Congenital melanocytic naevi (CMN) and arteriovenous malformations (AVM) are rare, severe and incurable birthmark conditions associated with lifelong visible difference and complex medical needs. Despite the importance of early health care experiences for parental and child adjustment in general, these remain unexplored in this context. This study aimed to explore parental experiences of raising a child with rare severe birthmarks, the role of specialist care in parental adjustment, and to develop recommendations for clinical care.

DESIGN

Reflective thematic analysis (RTA) was used to analyse semi-structured narrative-style interviews conducted with 23 parents of children aged ≤12 years recruited sequentially from a specialized NHSE Rare Disease Collaborative Network (RDCN) outpatient clinic in London, UK.

METHODS

Interviews were conducted virtually via telephone or Zoom and analysed using RTA using NVivo software (version 13). Reflexivity was achieved through the keeping of a reflexive journal and debriefing with the research team.

RESULTS

Through RTA, three themes were generated which highlight the challenges faced by parents of children with rare birthmarks. Firstly, parents' experiences before coming to the first appointment, secondly 'learning to belong' in the health care system and thirdly 'making room' for the condition. These themes and respective subthemes provide new insights into the importance of specialist centres in relation to parental adjustment to rare birthmarks.

CONCLUSIONS

Findings underscore the pivotal role of specialist care in parental adjustment to rare, appearance-altering conditions. Practical care recommendations are presented to support families across care pathways.