Parents as First Responders: Experiences of Emergency Care in Children with Nemaline Myopathy: A Qualitative Study

Background: 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. Methods: 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. Results: 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. Conclusions: 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.