本研究採質性研究，進行半結構訪談，以設籍於高雄市，且領有罕病身心障礙手冊及其家人為對象，共21個罕病家庭36人完成訪談，旨在探討罕見疾病家庭的壓力因應與需求。研究過程，研究團隊維持中立並遵守研究倫理，以維護受訪者權益與確保訪談資料的真實性。資料分析依序進行編碼、概念化、建構類別、信度分析與效度檢核等，獲致研究的重要結論包括：首先，罕病家庭最大壓力來自照護患者，期望社福制度放寬照護限制，並提供臨時托育的喘息服務。其次，影響家庭生態系統，如生育計畫、經濟平衡與家人關係，若家庭成員能夠互相扶持與共同分擔，不僅可以維繫家庭和諧，亦能共同解決問題。第三，適當的社會比較有助於罕病家庭的壓力紓解，若能透過媒體報導，增進社會大眾的瞭解程度，應有助於罕病家庭建立正向的社會互動。第四，罕見疾病的異質性高、診療不易，常伴隨復健需求，故罕病家庭期待得到更好的醫療服務品質，希望政府鼓勵專業研發來提升醫療效果，並在診治過程受到尊重。另外，期望在教育、就業與安養，能獲得整合服務，並呼籲政府「建立有尊嚴的照護制度」。總之，罕病家庭亟需社會大眾、社會福利、醫療與教育等單位及政策規劃者的深層同理與關懷，妥善規劃罕病家庭支持系統並能提供整合性的安置服務，應是最迫切需求。

This current study aims to survey the stressors coping and needs of the families with rare disorders. The study interviewed 36 people from 21 families of the patients with rare disorders in the Kaohsiung City. The research team stands to the ethic code during the data collecting processes to protect the interviewee’s rights and privacy while ensuring the accuracy of the content. Interview data were coded, conceptualized, categorized, validated for reliability and validity. The study concluded that the biggest stressor of the families with rare disorders comes from taking care of the patient. Families hope for a more adaptable social welfare policy and to provide respite services such as temporary care release for the family. Secondly, families ecological system was impacted, the family burden would be lessened if family events such as having new baby, balancing family finance and relationship could be shared among family members. Thirdly, social acceptance and acknowledgment of rare disorders through propaganda would help relief family stress. Fourthly, improved quality and resources of medical service to support families’ emotional and medical informational needs are required to fulfill families’ demand for respectful and empathetic medical care. In all, families with rare disorder patients need a strong, comprehensive, and caring social welfare, educational, and medical system to support their heavy burden in taking care of their families with rare disorder.

罕見疾患; 社會比較; 家庭壓力; 喘息服務

family stress; rare disorders; respite service; social comparison