The Experiences of the Families With Children Diagnosed With Osteogenesis Imperfecta: A Qualitative Study in Turkey

Abstract

Background: The diagnosis of osteogenesis imperfecta affects the whole lives of family members. This study aims to investigate the lived experience of families with children diagnosed with osteogenesis imperfecta. Design and methods: This study used a qualitative, phenomenological design. The study sample consisted of parents of the children who were followed up with the diagnosis of osteogenesis imperfecta in the pediatric endocrinology clinic in Turkey. In order to collect data, a semi-structured interview form was prepared, and data were collected by way of face-to-face interviews. The lived experience of families were analyzed using qualitative methods. The life experiences of the families were analyzed in depth using qualitative methods. Results: In the study, six themes were identified, including having a child diagnosed with osteogenesis imperfecta, family process, life patterns, emotional dimension, social life, and economic dimension. The results revealed that parents did not know about the disease upon learning of the child's diagnosis. Parents stated that they experienced anxiety, disappointment, sadness, denial, and despair when they first learned about their children's diagnosis. They also indicated that having a child with osteogenesis imperfecta affected the whole family in physiological, psychological, and social aspects. Conclusion: Parents and children should be given information about the disease since the first diagnosis of osteogenesis imperfecta, and psychosocial support should be provided. Families that can not get sufficient psychosocial support experience difficulties in the medical and care management of the disease. Practice implications: Knowing and understanding the lived experiences of families living with osteogenesis imperfecta can guide the planning and implementation of quality nursing care processes.