Osteogenesis imperfecta and the family: A qualitative analysis of the experiences of family and caregivers.

INTRODUCTION

Osteogenesis imperfecta (OI) describes a group of rare, heritable bone disorders causing bone fragility, tendency to fracture with minimal trauma, and chronic pain due to abnormal collagen synthesis. Limited research exists on the psychosocial impact of OI during childhood on caregivers and families.

PURPOSE: This study aimed to understand caregiver experiences, existing social support provided for families affected by OI, and the impact of OI on family life.

METHOD: Thirteen caregivers of individuals with OI participated in semistructured interviews. Researchers coded, abstracted, and analyzed qualitative data to develop themes on the psychosocial impact of OI on the family unit.

RESULTS

Analysis yielded four themes: (a) encountering difficult experiences during diagnosis of OI, (b) caregiver well-being and coping, (c) broad family impact, and (d) the existence and further need for social support.

DISCUSSION: Findings have implications for child and caregiver well-being and health care professionals during diagnosis and emphasize the need for social support for families affected by OI. Future research should engage a more diverse (in terms of ethnoracial demographics and family structures) sample and utilize quantitative analyses to complement the present understanding of the relationship between OI and family well-being. (PsycInfo Database Record (c) 2025 APA, all rights reserved).