研究目的：涎酸酵素缺乏症是一種極為罕見、具遺傳性的神經退化性疾病，目前尚缺乏有效的根治方法。基因檢測雖能協助患者獲得明確罹病資訊，卻也為患者與家屬帶來心理與社會適應影響。然而，既有文獻對於涎酸酵素缺乏症患者接受基因檢測後的長期適應歷程，仍較少受到探討。考量疾病極為罕見且發病年紀較早，檢測對於患者與家屬的適應可能帶來心理社會等多面向影響。因此，本研究以涎酸酵素缺乏症為對象，探索患者與家屬接受基因檢測的經驗、態度與心理歷程。
研究方法：本研究於北部某醫學中心神經部門診收案，研究參與者為一名已接受基因檢測的涎酸酵素缺乏症患者及其父親。研究者分別與患者及父親進行半結構式訪談，內容涵蓋(1)發病與確診歷程，(2)遺傳認知與檢測經驗，(3) 疾病適應、生活影響與未來展望，(4)社會支持與人際互動。本研究以個案研究法作為整體研究架構，並參照扎根理論方法進行編碼，以整理患者與父親在疾病及基因檢測歷程中的主觀經驗。
研究結果：本研究歸納出四項主題與其下的次主題，分別為主題一「困惑與無奈」下有三個次主題：不確定與納悶、波折與無奈、無視困惑，主題二「確診的影響」下有三個次主題：基因檢測帶來確定性、確診的救贖、確診的傷害，主題三「期待與失落」下有四個次主題：缺乏回饋、因應失敗、自我認識與同儕比較、不敢冀望未來，主題四「控制感與自主性」下有三個次主題：主動交出控制權、獨立自主需求、調節自主期待。
結論：本研究顯示，確診型基因檢測雖能終止診斷流浪，協助患家確認病因並建立疾病理解，但無法完全消除對病程進展、治療結果及未來生活所帶來的不可控制感與不可預測感。隨著症狀進展、身體功能與獨立自主性下降，以及家庭互動與照顧需求改變，患家可能持續經驗新的失落與適應壓力，並試圖在難以控制的疾病處境中尋求部分控制感。因此，檢測後適應不宜僅被視為結果揭露後的一次性反應，而應理解為壓力內容與患家資源持續變化的慢性壓力與長期調適歷程。臨床照護除應建立長期且具動態性的追蹤與支持機制，也應將患家對檢測確定性的期待、因應方式的功能與彈性，以及家庭支持能否隨患者需求變化並兼顧其自主性，作為評估其適應情形的重要面向。

Objective: Sialidosis is an extremely rare hereditary neurodegenerative disease for which no effective curative treatment is currently available. Although genetic testing can provide patients with clear information about their disease, it may also affect the psychological and social adaptation of patients and their families. However, the long-term adaptation of patients with sialidosis following genetic testing has received lim-ited attention. Given the rarity and early onset of the disease, genetic testing may have multidimensional psychosocial effects on patients and their families. Therefore, this study explored their experiences, attitudes, and psychological processes related to ge-netic testing.
Method: Participants were recruited from the neurology outpatient clinic of a medical center in northern Taiwan and included one patient with sialidosis who had undergone genetic testing and his father. Separate semi-structured interviews covered: (1) disease onset and diagnosis, (2) perceptions of heredity and genetic testing experiences, (3) disease adaptation, impacts on daily life, and future outlook, and (4) social support and interpersonal interactions. A case study approach was adopted, and the data were cod-ed with reference to grounded theory methods to organize their subjective experiences throughout the disease and genetic testing processes.
Results: Four themes and their subthemes were identified. Theme 1, “Confusion and Helplessness,” included uncertainty and puzzlement, setbacks and helplessness, and ignoring confusion. Theme 2, “The Impact of Diagnosis,” included certainty brought by genetic testing, relief brought by diagnosis, and harm caused by diagnosis. Theme 3, “Expectations and Loss,” included lack of feedback, failed coping, self-perception and peer comparison, and not daring to hope for the future. Theme 4, “Sense of Con-trol and Autonomy,” included voluntarily relinquishing control, the need for inde-pendence and autonomy, and adjusting expectations for autonomy.
Conclusion: Confirmatory genetic testing can end the diagnostic odyssey, help pa-tients and their families identify the cause of the disease, and establish an understand-ing of the illness. However, it cannot completely eliminate the sense of uncontrollabil-ity and unpredictability associated with disease progression, treatment outcomes, and future life. As symptoms progress, physical functioning, independence, and autonomy decline, while family interactions and caregiving needs change. Patients and their fami-lies may therefore continue to experience new losses and adaptation-related stress while seeking a partial sense of control in circumstances where the disease remains difficult to control. Post-testing adaptation should not be viewed solely as a one-time response to result disclosure, but as chronic stress and a long-term adaptation process in which stressors and family resources continue to change. Clinical care should estab-lish long-term and dynamic follow-up and support mechanisms. It should also consid-er patients’ and families’ expectations regarding the certainty provided by testing, the functions and flexibility of their coping strategies, and whether family support can re-spond to changing needs while respecting patient autonomy.

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