本研究建構在家庭系統理論與家庭壓力理論的基礎，分析罕見疾病家庭所面臨的壓力來源，並採質化研究中的「焦點團體」及「深入訪談」進行資料收集。研究發現罕病家庭主要壓力來源包括：（1）來自疾病診療複雜的壓力（2）因為疾病照顧困難的壓力（3）擔心病童個人發展的壓力（4）面對家庭資源困境的壓力（5）承受社會排斥的壓力（6）家庭系統改變的新壓力等六項。此外，本研究也發現罕見疾病家庭的壓力源是一個動態發展的歷程，單一理論無法完整透視罕病家庭的壓力源，而罕見疾病的差異也使家庭所面對的壓力源有所不同，並使得母親承受較多來自家庭內部的生活照顧壓力，而父親則面對較多尋求家庭外部資源的壓力。

This study, based on qualitative data from in-depth focus group interviews, tried to analyze the sources of stress for families with children suffering from rare diseases from two perspectives; that of family systems theory and that of Double ABC-X model. The study found that the main sources of stress for families with rare diseases include: (1) stress in this complicated period during and immediately following the doctor's diagnosis; (2) stress from difficulties in taking care of the patient; (3) worries about the patient's future development; (4) stress from the family's financial difficulties; (5) stress due to being excluded from the society; (6) new stress coming from changes in the family system. Furthermore, this research also finds that the source of stress for “rare disease families” cannot easily explained by a single theory—it may develop in complex and unpredictable ways. Different rare diseases create different sources of stress, and normally the mother is more stressed than other members of the family during the period of caring for children with rare diseases. By contrast, the father’s stress mostly comes from financial pressures and the responsibilities of his job.