Merchán Arjona Raúl, Velarde-García Juan Francisco, Pacheco Del Cerro Enrique, Meneses Monroy Alfonso
Red Cross University School of Nursing, Autonomous University of Madrid, 28003 Madrid, Spain.
Research Group in Social Health Care Needs for the Population at Risk of Exclusion, Red Cross University School of Nursing, Autonomous University of Madrid, 28003 Madrid, Spain.
Nurs Rep. 2025 Jul 29;15(8):271. doi: 10.3390/nursrep15080271.
: Nemaline myopathy is a rare congenital neuromuscular disease associated with progressive weakness and frequent respiratory complications. In emergency situations, families often serve as the first and only responders. The aim of this study is to explore how parents in Spain care for children with nemaline myopathy during emergency situations, focusing on the clinical responses performed at home and the organizational challenges encountered when interacting with healthcare systems. A qualitative phenomenological study was conducted with 17 parents from 10 families belonging to the Asociación Yo Nemalínica. Semi-structured interviews were performed via video calls, transcribed verbatim, and analyzed using Giorgi's descriptive method and ATLAS.ti software (version 24). Methodological rigor was ensured through triangulation, reflexivity, and member validation. Four themes were identified. First, families were described as acting under extreme pressure and in isolation during acute home emergencies, often providing cardiopulmonary resuscitation and respiratory support without professional backup. Second, families managed ambiguous signs of deterioration using clinical judgment and home monitoring tools, often preventing fatal outcomes. Third, parents frequently assumed guiding roles in emergency departments due to a lack of clinician familiarity with the disease, leading to delays or errors. Finally, the transition to the Pediatric Intensive Care Unit was marked by emotional distress and rapid decision-making, with families often participating in critical choices about invasive procedures. These findings underscore the complex, multidisciplinary nature of caregiving. Parents play an active clinical role during emergencies and episodes of deterioration. Their lived experience should be formally integrated into emergency protocols and the continuity of care strategies to improve safety and outcomes.
杆状体肌病是一种罕见的先天性神经肌肉疾病，伴有进行性肌无力和频繁的呼吸并发症。在紧急情况下，家庭往往是第一响应者，也是唯一的响应者。本研究的目的是探讨西班牙的父母在紧急情况下如何照顾患有杆状体肌病的儿童，重点关注在家中采取的临床应对措施以及与医疗系统互动时遇到的组织挑战。对来自属于“我是杆状体肌病协会”的10个家庭的17名父母进行了一项定性现象学研究。通过视频通话进行半结构化访谈，逐字转录，并使用 Giorgi 的描述性方法和 ATLAS.ti 软件（版本24）进行分析。通过三角验证、反思和成员验证确保了方法的严谨性。确定了四个主题。首先，在急性家庭紧急情况期间，家庭被描述为在极端压力下孤立行动，经常在没有专业支持的情况下进行心肺复苏和呼吸支持。其次，家庭使用临床判断和家庭监测工具来处理恶化的模糊迹象，常常避免了致命后果。第三，由于临床医生对该疾病缺乏了解，父母在急诊科经常承担指导角色，导致延误或错误。最后，向儿科重症监护病房的过渡以情绪困扰和快速决策为特征，家庭经常参与有关侵入性程序的关键选择。这些发现强调了护理工作复杂的多学科性质。父母在紧急情况和病情恶化期间发挥着积极的临床作用。他们的实际经历应正式纳入应急方案和护理连续性策略，以提高安全性和改善治疗结果。
