一位Schaaf-Yang Syndrome 罕病新生兒及其照顧者的護理經驗

The Nursing Experience of A Newborn with A Rare Schaaf-Yang Syndrome and Her Caregivers

本篇是一位Schaaf-Yang Syndrome罕病新生兒及照顧者的護理經驗。個案係G2P2，GA37+3週採剖腹產方式娩出之女嬰，ApgarScore第一分鐘7分，第五分鐘8分，體重4100公克，出生後因呼吸窘迫入新生兒中重度病房，繼而發現其手指攣縮、無法吞嚥、餵食困難及不明原因左腿股骨骨折，引發筆者探討動機。2021年1月30日至3月16日照護期間藉由會談、觀察、身體評估與查閱病歷等方式收集資料，確認個案護理問題為低效型呼吸型態、低效性新生兒哺餵型態及身體活動功能障礙，案父母為照顧者角色緊張。筆者藉著跨領域團隊合作，提供以家庭為中心的照護，運用呼吸器改善個案呼吸問題，運用副木固定及關節運動改善肢體活動，與語言治療師協助個案吞嚥訓練施行全口哺餵以改善新生兒哺餵問題，更利用多媒體衛教影片重複播放，方便照顧者增強記憶及學習效果，以減輕其照顧壓力。由於罕見疾病個案稀少及診斷不易，在護理資訊不足之下，護理人員容易產生心有餘而力不逮之感，建議兒科護理人員能多參與罕見疾病醫療照護與社會福利救助等相關研習會；也發現罕見疾病新生兒父母往往有照顧上的焦慮與不易上手的生疏感，因此需要醫護人員更多的關注。藉此照護經驗之分享，以作為日後照護類似個案的參考。

This article presents a nursing experience of a newborn and caregivers affected by Schaaf- Yang Syndrome, a rare disease. The newborn was delivered by a G2P2 mother through cesarean section at 37+3 weeks of gestation. The Apgar scores were 7 at one minute and 8 at five minutes, with a birth weight of 4100 grams. The newborn was admitted to the neonatal intensive care unit due to respiratory distress, and subsequently, finger contractures, swallowing difficulties, feeding challenges, and an unexplained left femoral fracture were discovered, motivating the author to explore further. Data was collected from January 30 to March 16, 2021, through meetings, observations, physical assessments, and reviewing medical records. Nursing problems were identified as ineffective breathing patterns, ineffective newborn feeding patterns, and impaired physical mobility. The parents' problem was identified as caregiver role strain. Collaborating with multidisciplinary teams, family-centered care was provided. The respiratory issue was addressed through the use of a ventilator, limb activity was improved using splint fixation and joint exercises, and a speech therapist assisted with swallowing training and implementing full oral feeding to address the newborn's feeding problems. Additionally, multimedia health education videos were utilized to enhance caregivers' memory and learning, thereby reducing their stress. Given the rarity of the disease and the challenges in diagnosis, nursing staff often feel overwhelmed due to a lack of nursing information. It is recommend that pediatric nurses actively participate in seminars and workshops related to rare disease medical care and social welfare assistance. Moreover, it is important to note that parents of newborns with rare diseases frequently experience anxiety and struggle with caregiving tasks, warranting increased attention and support from healthcare professionals. Sharing this nursing experience serves as a reference for future cases requiring similar care.