羅紫羽
羅素西弗氏症
「拇指姑娘」需日打激素 醫生難料成長變數
安徒生童話裏的「拇指姑娘」精靈小巧。
有人用來形容發育遲緩、身形嬌小的罕見病羅素西弗氏症患者。
但現實生活裏,他們還要面對長短手腳、脊柱側彎、餵食困難……
就像紫羽便要天天注射生長激素、面對副作用……直至成年。
媽媽落淚:「能夠維持佢(紫羽)正常營養、正常生長已經好開心。」
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Lifewire團隊甫踏進紫羽家中,就看見她鼓着腮坐在沙發上,枱上放著媽媽煮好的午飯,她卻不感興趣,媽媽大感頭痛。唸小三的羅紫羽(8歲),看上如6歲般的小孩。「我睇返姐姐(紫羽)BB時嘅生長曲線,我好感慨,點解佢喐都唔喐呢?」媽媽一邊為紫羽沖營養奶,一邊慨嘆。她比較紫羽和弟弟(2歲)嬰兒時的發育數據,發現紫羽花了一個月才追近弟弟一星期的生長幅度。
「身材矮小、發育遲緩、四肢左右不對稱、脊柱側彎、餵食困難……」羅素西弗氏症這個病名,以兩位發現並公佈的醫生名字命名。約六成患者因染色體基因異常導致發病,四成患者病因不明。外人對紫羽的病不了解,總以為是她揀飲擇食,殊不知是此病症狀,患者容易便秘和欠缺食慾。
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ATAD3A