Family experience with osteogenesis imperfecta type 1: the most distressing situations

Abstract

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 semistructured 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. Implications for rehabilitation Osteogenesis imperfecta is a chronic rare disease that impacts severely the patient's life and the life of all family members. The most distressing situations are related to fractures and pain, hospitalization, recovery from fractures while being at home and preparing for school reentry. All family members participate in the rehabilitation process, each one accomplishing different tasks. Rehabilitation should include educational and psychological intervention to enhance family strengths and support all family members. Tailored and effective communication from health providers may play a critical role in the rehabilitation process.