Shaping and managing the course of a child's disease: parental experiences with osteogenesis imperfecta

Abstract

Background: Osteogenesis imperfecta (OI), a rare genetic disease, causes increased bone fragility. The course of childhood chronic conditions particularly rare genetic diseases can be modified by both child and parents. However with limited research, shaping and managing that process is not well understood.

Objective: Here we examine how parents of children with severe and mild OI have shaped and managed the condition of their child over time. Our goal is to provide a in-depth understanding of parental responses to OI.

Methods: This study was carried out in a pediatric orthopedic hospital located in Montreal, Canada. Using the principles of interpretative description, we conducted semi-structured interviews with 48 parents of children diagnosed with OI.

Results: We found that parental responses to their child' disease are constituted by their feelings and their actions. These responses changed over time. We can report four successive phases: an initial reaction, acceptance, normalization and passing the baton. Each stage affected subsequent stages. Every stage was influenced by the severity of OI, parents' individual characteristics, their day-to-day experiences and the entourage.

Conclusion: Our study contributes to increased understanding of parental responses to OI and to improved parental responses and ultimately the child's coping.

Keywords: Children; Genetics; Illness and rare disease; North America; Osteogenesis imperfecta; Parental responses; Psychosocial issues; Qualitative; Research.