一位尼曼匹克疾病C型末期合併呼吸困難住院病童之護理經驗

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

本文敘述一位尼曼匹克疾病C型（Niemann-Pick disease type C）末期病童住院照護經驗，照護期間從2018年4月至6月。尼曼匹克疾病C型是一種基因異常之罕見疾病，因無法代謝脂質導致肝脾腫大、呼吸困難及中樞神經退化。因罕見疾病個案數少，醫護人員缺乏相關照護經驗，故對於症狀評估、用藥調整，及預測生命存活期等均有困難，加上面對家屬情緒的隱形壓力，末期照護困難重重。筆者藉由整體性和家庭評估，了解病童與其家庭之護理問題，確立主要護理問題為呼吸困難與照顧者角色緊張，故啟動多專業團隊照護協助症狀控制及出院準備，並藉由安寧緩和家庭會議整合相關資源，再經家庭會議建立家人共識，讓病童順利出院返家及持續醫療關懷，不僅提升病童照護品質及家庭凝聚力並減輕照顧者負荷。期望能藉由分享此照護經驗，作為罕病末期病童出院準備服務之參考。

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.