睇燈飾、食聖誕大餐、去旅行歡渡佳節,對於一班患上罕見病的病童,原來能夠「行得走得」,已經是最大的新年願望。今年12歲的柏慧,是染色體異常7q綜合症的患者。染色體異常7q綜合症極其罕有,現時世界上只有三個確診病例,兩個案例的壽命均不超過2歲,柏慧是全球第3個確診病例,亦是首個女性病例。過去12年,她先後因小頭骨發育不良、腭裂、輸尿管倒流、先天性脊椎側彎等問題進出手術室,兩年前經歷脊柱融合手術後,柏慧變成不良於行,而且受小頭畸形影響,她的智力發展亦受影響,只能用手做簡單動作,以及發出吖吖聲表達自己。
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