Cabieses Báltica, Obach Alexandra, Roberts Antonia, Repetto Gabriela
Centro de Salud Global Intercultural, Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina Clínica Alemana, Facultad de Psicología, Universidad del Desarrollo, Santiago, Chile.
Department of Health Sciences, University of York, York, UK.
Orphanet J Rare Dis. 2025 Feb 25;20(1):86. doi: 10.1186/s13023-025-03595-6.
Rare diseases are conditions that have a low prevalence in the population and a high disease burden and are often chronic and progressive. International evidence concerning the experience of people and families living with rare diseases is scarce, leading to late and erroneous diagnoses, as well as non-specific treatments. This study explored the therapeutic trajectories of people and families living with rare diseases within Chile's public and private healthcare systems from the perspective of patients, caregivers, and medical teams, including the initial symptoms, first consultation, testing, diagnosis, treatment, and follow-up.
A qualitative exploratory study was conducted through multiple case studies. Sixty participants were interviewed in person and/or virtually: patients (n = 16), caregivers (n = 22), healthcare workers (n = 20), and two patient organisation leaders. The material was analysed using thematic analysis. The project was approved by the Scientific Ethics Committee of Facultad de Medicina Clínica Alemana, Universidad del Desarrollo.
After similar initial symptoms and first consultation, three main types of trajectories were identified: (i) the path taken by those who reach a diagnosis for a disease that has specific treatment available; (ii) the journey of those who reach a diagnosis for their health condition, but their disease does not have a specific treatment available; and (iii) the trajectory of those who have not reached a diagnosis and receive symptomatic treatments for symptoms.
The therapeutic trajectories of patients with rare symptoms are similar in terms of initial symptoms and first consultation. However, their paths diverge at the diagnostic stage, with diverse experiences related to these journeys, largely based on having a diagnosis and whether there is a specific treatment. Rare conditions in Chile requires further attention and urgent action that considers those who live with them and their families.
罕见病是在人群中患病率低但疾病负担高的病症，通常为慢性且呈进行性发展。关于罕见病患者及其家庭经历的国际证据匮乏，这导致诊断延迟和错误，以及治疗缺乏针对性。本研究从患者、护理人员和医疗团队的角度，探讨了智利公共和私立医疗体系中罕见病患者及其家庭的治疗轨迹，包括初始症状、首次就诊、检测、诊断、治疗及随访情况。
通过多个案例研究进行定性探索性研究。共对60名参与者进行了面对面和/或虚拟访谈：患者（n = 16）、护理人员（n = 22）、医护人员（n = 20）以及两名患者组织负责人。采用主题分析法对资料进行分析。该项目获得了德萨罗洛大学德国临床医学院科学伦理委员会的批准。
在出现相似的初始症状和首次就诊后，确定了三种主要类型的轨迹：（i）那些被诊断出患有有特效治疗方法疾病的患者所经历的轨迹；（ii）那些被诊断出健康状况但所患疾病无特效治疗方法的患者的历程；（iii）那些未得到诊断且仅接受症状治疗的患者的轨迹。
罕见症状患者的治疗轨迹在初始症状和首次就诊方面相似。然而，他们的轨迹在诊断阶段出现分歧，这些历程有着不同的经历，很大程度上取决于是否得到诊断以及是否有特效治疗方法。智利的罕见病情况需要进一步关注并采取紧急行动，要考虑到患者及其家庭。
