Uzsen Hatice, Zengin Dilek, Basbakkal Zumrut
Department of Pediatric Nursing, Faculty of Health Sciences, Ondokuz Mayis University, Samsun, Turkey.
Department of Pediatric Nursing, Faculty of Nursing, Ege University, İzmir, Turkey.
J Pediatr Nurs. 2023 Nov-Dec;73:e172-e179. doi: 10.1016/j.pedn.2023.08.010. Epub 2023 Aug 15.
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.
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.
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.
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.
Knowing and understanding the lived experiences of families living with osteogenesis imperfecta can guide the planning and implementation of quality nursing care processes.
成骨不全症的诊断会影响家庭成员的一生。本研究旨在调查家中有被诊断为成骨不全症孩子的家庭的生活经历。
本研究采用定性的现象学设计。研究样本包括在土耳其儿科内分泌诊所接受随访且被诊断为成骨不全症孩子的父母。为收集数据，准备了一份半结构化访谈表格，并通过面对面访谈收集数据。采用定性方法分析家庭的生活经历。运用定性方法深入分析家庭的生活经历。
在该研究中，确定了六个主题，包括孩子被诊断为成骨不全症、家庭过程、生活模式、情感维度、社会生活和经济维度。结果显示，父母在得知孩子的诊断结果时对该疾病并不了解。父母表示，他们在首次得知孩子的诊断结果时经历了焦虑、失望、悲伤、否认和绝望。他们还指出，家中有一个患成骨不全症的孩子在生理、心理和社会方面影响了整个家庭。
自首次诊断成骨不全症起，就应向父母和孩子提供有关该疾病的信息，并应提供心理社会支持。无法获得足够心理社会支持的家庭在该疾病的医疗和护理管理方面会遇到困难。
了解和成骨不全症患儿家庭的生活经历可以指导优质护理流程的规划与实施。
