[Nursing Experience of a Child With Difficulty Breathing With End-Stage Niemann-Pick Disease Type C].

This case report describes a nursing experience providing end-of-life care to a child with Niemann-Pick disease type C. The period of nursing care was from April to June 2018. After comprehensive nursing and family assessment, dyspnea and caregiver's role strain were identified as the primary nursing-care problems. Niemann-Pick is a rare disease caused by genomic abnormalities. Patients with this disease are unable to metabolize lipids, which accumulate in organs, causing hepatosplenomegaly, dyspnea, and central nervous system degeneration. There is a lack of relevant experience in medical and nursing care due to the small number of cases worldwide. It is difficult to predict the progress of this disease and the life expectancy of the patient. The complex indications of this disease complicate the caregiver burden and process of end-of-life care. Thus, the multi-disciplinary team integrated the discharge preparations, symptom control skills, and related resources to build consensus with the family. We provided nursing care continuously from hospital to home as well as improved quality of care and family cohesion and reduced caregiver load. We hope that sharing this experience provides a reference for discharge planning and end-of-life care for children with rare diseases.