Mo Lin, Du Fan-Yan
Department of Outpatient, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Chongqing Key Laboratory of Structural Birth Defect and Reconstruction, Chongqing, China.
BMC Nurs. 2025 Jan 29;24(1):108. doi: 10.1186/s12912-025-02740-7.
This study aims to analyze the medical-seeking behavior of Osteogenesis Imperfecta(OI) children in Southwest China, summarize and analyze the issues in their medical process, and propose corresponding improvement strategies.
A phenomenological study involving semi-structured interviews with 20 OI caregivers at a tertiary centre for children from March to August 2021 was analyzed thematically, following Anderson's model.
We identified eight themes in the data: 1)Regional disparities of OI management, 2)Big economic burden, 3)High-risk population, 4)Lack of health education, 5)Multiple treatments,6)Strict treatment indications,7)Disappointing therapeutic outcomes,8)Effective or ineffective treatment results.
The current rare disease insurance policies do not cater to the needs of the OI community. The treatment fees are excessively high, surpassing the financial limits of patient families. Caregivers, lacking sufficient knowledge of the disease, find it difficult to manage the condition effectively. There is a pressing need for the state to revise relevant policies, and for tertiary hospitals, grassroots medical institutions, and specialized medical personnel to each shoulder their responsibilities in the treatment and management of rare diseases.
OI patients face many challenges in seeking care behavior. Improving access to medical resources, promoting collaboration between specialists and general practitioners, reforming insurance for rare diseases, leveraging social resources, and educating families can boost OI diagnosis rates and enhance family disease management.
本研究旨在分析中国西南部成骨不全症（OI）患儿的就医行为，总结并分析其就医过程中存在的问题，并提出相应的改进策略。
采用现象学研究方法，于2021年3月至8月在一家三级儿童中心对20名OI患儿的照料者进行半结构式访谈，并按照安德森模型进行主题分析。
我们在数据中确定了八个主题：1）OI治疗的地区差异；2）经济负担重；3）高危人群；4）缺乏健康教育；5）多种治疗方式；6）严格的治疗指征；7）治疗效果令人失望；8）治疗结果有效或无效。
当前的罕见病保险政策无法满足OI群体的需求。治疗费用过高，超出了患者家庭的经济承受能力。照料者对该疾病缺乏足够了解，难以有效管理病情。国家迫切需要修订相关政策，三级医院、基层医疗机构和专业医务人员应各自在罕见病的治疗和管理中承担起责任。
OI患者在就医行为方面面临诸多挑战。改善医疗资源的可及性、促进专科医生与全科医生的合作、改革罕见病保险、利用社会资源以及对家庭进行教育，可提高OI的诊断率并加强家庭对疾病的管理。
