【聯合報╱編譯陳世欽／報導】 2009.05.23 03:46 am
光看外表，英國6歲女孩貝塔妮‧喬登（Bethany Jordan ）與其他活蹦亂跳的小女孩沒兩樣，包括天真無邪的笑容。但是體內，她的五臟六腑卻有與眾不同的排列組合。
貝塔妮出生時就有5個脾臟，心臟有一個破洞，肝臟前後倒置，右肺形成時有如左肺，胃的位置也不對。
倫敦每日郵報22日以「拼圖女孩」（Jigsaw Kid）報導貝塔妮的故事，醫師曾預告她可能很快就會夭折。貝塔妮至今還好端端活著。
貝塔妮與父母住在西密德蘭史托爾橋，罹患的是艾維馬克綜合症（Ivemark Syndrome）。這是一種罕見的臟器先天錯置症狀，特點是心血管系統發育不良，部分臟器位置錯誤。這意味，她無法像正常小孩那樣的承受正常程度的體力消耗。如果貝塔妮運動過度，旁人可自她的背後看到心臟跳動。
這種病例出現的機率約僅15萬分之一，每一個個案都有不同的特點，以致醫學界對它所知甚少。專家認為，原因可能與遺傳有關。貝塔妮的母親麗莎表示：「她的部分臟器前後錯置。我們必須加倍小心，因為她很容易累。」
貝塔妮的5個脾臟比正常脾臟小很多，而且無法有效過濾血液，使她很容易受到感染。
麗莎表示：「這意味，如果她生病，復原的時間會比較久，因為她的免疫系統很薄弱。」
伯明罕婦女醫院的醫師在麗莎接受產檢時，即已發現貝塔妮的問題。他們找不到脾臟，並向她的父母表示，她可能罹患唐氏症。醫師當時並研判，貝塔妮的腦部可能受損，這使她的父母面臨是否終止懷孕的痛苦選擇。稍後的檢測顯示，她的腦部正常；麗莎最後還是決定生下她。
主治醫師表示貝塔妮最終需要肝臟移植，但目前情況良好，每年只需回診兩次。
The'Jigsaw Kid' who has five spleens, a back-to-front liver and two left lungs
By David Wilkes
Last updated at 11:07 AM on 22nd May 2009
On the outside, Bethany Jordan looks like any healthy little girl - cheeky grin included.
But on the inside, she has been pieced together differently from everyone else.
Dubbed the 'Jigsaw Kid', Bethany was born with five spleens, a hole in the heart, a diseased and back-tofront liver, a right lung formed as if it was a left one, and her stomach on the wrong side.
Doctors warned her parents Lisa and Robert there was little chance she would survive birth.
But she did, and six years later is still defying the odds.
Bethany, of Stourbridge, West Midlands, suffers from Ivemark Syndrome, a very rare disorder characterised by a poorly-formed cardiovascular system and having organs in the wrong place.
It means she cannot stand up to some of the normal rigours and strains of an average child. When she exercises too much, Bethany's heart can be seen beating through her back.
There are so few sufferers - one in 150,000 - and each case is so different, that very little is known about the condition. The cause is thought to be genetic.
Yesterday her mother said: 'Underneath her skin everything is back to front and jumbled up.
'We have to really watch her because she gets tired very quickly because of her condition.'
Her five spleens - each much smaller than a healthy one - do not work effectively at filtering her blood, leaving her at risk of harmful infections.
'It means that if she gets ill it takes a lot longer for her to get over it because she has a very low immune system,' said Mrs Jordan.
Doctors at Birmingham's Women's Hospital discovered Bethany's condition before she was born during routine pregnancy scans.
They were not able to find a spleen and warned her parents she could also be suffering from Down's Syndrome.
Doctors also thought Bethany could be brain-damaged, leaving her family with the agonising decision of whether to terminate the pregnancy. Later tests showed her brain was normal and Mrs Jordan chose to go ahead with the birth.
Bethany was born at nearby Wordsley Hospital, weighing 4lb 15oz. She spent ten days in an incubator before being allowed home.
A month later she was taken back to hospital after her heart failed and in the ensuing months had operations on her liver, a collapsed lung and on the hole in her heart, before rejoining her parents and brothers Drew, 19, Joshua, 17, and Reece, 13, at home again.
Dr Patrick McKiernan, Bethany's liver consultant at Birmingham Children's Hospital, said: 'No two children who have this condition would be alike, but treatment for Bethany's syndrome is getting better and better.
'We only need to see her twice a year now, which is great news for her and her family. She will eventually-need a liver transplant but at the moment we are just waiting to see when that will be.
'She is doing very well despite all of her problems, I think she's a very tough little girl.'
Ivemark Syndrome sufferers are slightly smaller than other children their age because of the calories they burn off by their hearts having to work harder.
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