Sze Ka Yan

Rett Syndrome

Daughter with Rett Syndrome; Rapid Regression
Mom: "Waiting for the 3 little words"

“Ka Yan seems like a cocoon being bound inside. It’s very hard and difficult if the situation could not be released. We don’t understand her. That’s why she feels very hard and difficult and it is the same for us.” - Ka Yan's Mom

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雷特氏症是甚麼？

罕見病「雷特氏症」（Rett Syndrome）是先天基因MECP2突變所致，是一種嚴重影響兒童精神運動發育的神經系統疾病，無法預防，也未有有效的治療方法。發病機率為1/10,000至1/12,000，多發生在女孩身上；很多在6至18個月大後出現，快速退化及發展遲緩，如智力下降、失去語言能力、動作控制失常、出現自閉症行為、腦癱、甚至肢體萎縮變形等。

主要病徵：

不斷搓手、癲癇、喪失語言能力、發育不良、脊柱側彎、睡眠障礙、便秘、不能自理等。

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