Author(s): Santos, Margarida Custódio dos ; Pires, Ana Filipa ; Soares, Kelly ; Barros, Luísa
Date: 2018
Persistent ID: http://hdl.handle.net/10400.21/7338
Origin: Repositório Científico do Instituto Politécnico de Lisboa
Subject(s): Osteogenesis imperfecta; Family; Stressful situation; Subjective experience; Rare disease
Background: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by decreased bone mass and increased bone fragility. Despite increasing research on the biomedical aspects of the disease, only a few studies focus on the psychosocial implications of living with OI. This study aimed to explore the situations that are perceived by OI type-1 children, their parents, and siblings, as being the most distressing and stressful in their experience with the disease. Methods: Seven families of children diagnosed with OI type 1 for longer than four years participated. An in-depth semi-structured interview with open-ended questions was used to separately collect each participant’s (mother, father, patient, and sibling) subjective report of their experience. Interviews were audiotaped and a qualitative discourse analysis was performed. Results: Pain and fractures, hospitalization, home recovery, back to school and time of diagnosis emerged as the most challenging situations. Time of diagnosis was only mentioned by parents. Some commonalities but also relevant differences in the subjective experience of the same situations, depending on the family role, were found. Conclusions: Our results reinforce the assumption that OI is a family matter and point to the importance of providing comprehensive and family-centered health and educational services tailored to each family member and to the different situations faced by these families.
