本研究主要目的是想了解1.罕見疾病家庭之病童、家庭及支持系統情形2.探討罕見疾病家庭之壓力情形3.探討罕見疾病家庭之病童個人、家庭、支持系統與其壓力之關係。本研究架構主要是從家庭系統理論、家庭發展理論及家庭壓力理論的觀點出發，來建立本研究架構，並從罕見疾病的病童個人情形、病童家庭狀況、支持系統 三大方面來探討罕見疾病兒童家庭壓力的狀況。
本研究為量化研究，以自編之「罕見疾病兒童家庭壓力」問卷作為資料收集工具，並以立意取樣的方式，以小胖威利協會、結節硬化症病友聯誼會、威廉氏症病友聯誼會三個協會會員為對象，總共發出256份問卷調查，經回收整理後取得有效樣本為131份，經整理建檔後以SPSS12.0 for Windows 進行資料的統計分析。
本研究有二項主要發現： (1)病童個人情形與病童家庭狀況變項對罕見疾病兒童家庭壓力的影響是有限的，僅有診斷病因、是否可按醫師指示確實吃藥、照顧者年齡、職業及面對疾病的態度五項會影響罕見疾病兒童家庭對壓力的感受。(2)支持系統變項是影響罕見疾病兒童家庭壓力的主要因素。家庭支持系統方面包括，配偶、自己父母、兄弟姐妹、配偶父母及幫傭，在社會支持系統方面包括，醫師或護理人員、復健治療師。
The main goal of this research is:
1. To understand the situation among a child with rare disorder, his family and the support system .
2. To discuss the pressure situation of the rare disease family.
3. To discuss the relationship of the pressure between the family’s individual , family and supporting system of the rare disorder sick child .
The mainly construction of my research is base on the family system theory to go on, with three respects of the rare disorder child’s situation, family and support system to establish construction of this research and to discuss it in this three respects.
This research is the quantification research and adopt personal tool of「The family pressure of the rare disease sick child」investigation paper to collect information, and until now got 131 of 256 the issue samples of Prader-Willi Syndrome Association, Tuberous Sclerosis Complex Association and Williams syndrome Association and then after arrangement with data analysis in computer of SPSS12.0 for Windows.
The findings are : (1) The influence of child’s situation and family factors on the Stress of families with the rare disorder child is limited.Only diagnosis diseases,exact eat medicine ,professional ,caregiver’s age,the attitude of the diseases(2)The conditions of the families’s Stress are the main effects on the rare disease family are support system’s spouse, parents and grandparents,sisters , labor , doctor and nursing members .
