The impact of severe osteogenesis imperfecta on the lives of young patients and their parents – a qualitative analysis

Abstract

BackgroundOsteogenesis imperfecta (OI) is a rare genetic disorder that causes increased bone fragility. Living with, caring for, and parenting a child with OI are all highly demanding and challenging. This study is a temporal analysis of the impact of severe OI on the lives of young patients and their parents.MethodsThis study was carried out at the Shriners Hospital for Children, a pediatric orthopedic hospital located in Montreal, Canada. Using qualitative interpretative description, we conducted semi-structured interviews with 24 subjects – 12 young patients diagnosed with severe OI and 12 of their parents. The interview data were subject to a predominantly inductive open thematic analysis and a temporal comparative analysis. We did a retrospective chart review to complement our data collection.ResultsWe found that the impact of severe OI on the young patients and their parents was characterized by four themes: 1) Starting at the time of diagnosis, a series of stages shaped life and the return to every day “normal”, 2) Living with OI was full of “ups and downs” throughout life, 3) Every day “normal” life with OI consisted of significant changes for parents and challenges for the whole family, and 4) Living with OI generated some positive experiences.ConclusionThis study contributes to a better theoretical understanding of the impact of severe OI on families. It also has some practical implications for the development of effective support systems for patients with severe OI and their families.

Quality of life in caregivers of children and adolescents with Osteogenesis Imperfecta

“…Adaptation to these changes requires the preparedness of all involved in the family environment, who must restructure their lives to deal with the disease and its implications [9,10]. …”

“…Furthermore, the provision of care and attention to a patient with OI may change the dynamics and routines of his or her family [8,9]. These sudden changes in the family environment are a source of conflict.…”

Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia

“…Living with a chronic rare disease often poses medical, psychological, financial and educational challenges [1]. Most rare diseases are genetic disorders, which are often debilitating and have long-term impact on the quality of life of individuals and their families [2].…”

Bisphosphonate therapy and osteogenesis imperfecta: The lived experience of children and their mothers

“…Parents in this study began their reflection from the time of the diagnosis of OI and included the family experience with the pain of fracturing (Claesson & Brodin, ). Additional studies have utilized interpretative description to establish the psychosocial impact of OI (Dogba et al., , ; Hill, Baird, & Walters, ). Adolescents and young adults (ages 15–21 years) focused on the ups and downs of living due to the experience of multiple fractures (Dogba et al., ).…”

“…Additional studies have utilized interpretative description to establish the psychosocial impact of OI (Dogba et al., , ; Hill, Baird, & Walters, ). Adolescents and young adults (ages 15–21 years) focused on the ups and downs of living due to the experience of multiple fractures (Dogba et al., ). Parents of the same adolescents and young adults focused on the changes in the family from the time of diagnosis through living with the burdens of OI.…”