聽到孩子咯咯的笑聲，大多數家長的臉上都會揚起微笑，但母親Sarah Cross卻害怕聽到兒子Sam的笑聲。如果小Sam微笑得時間過長，就可能會因此而喪命。現年6歲的Sam患有先天中樞性換氣不足癥候群。他在焦慮不安，生病，與朋友玩耍，專注觀看喜愛的電視節目，甚至是睡覺時，都會“忘記”呼吸。在全英國，此類疾病的患者約有60人。



THE sound of their child giggling would make most parents smile but it is one that Sarah Cross dreads. If her little boy Sam laughs for too long it can be life-threatening. Sam, aged six, is just one of around 60 people in Britain with congenital central hypoventilation syndrome (CCHS), which means he often stops breathing. It can happen if he’s upset, ill, playing with friends or just concentrating on his favourite TV programme. It always happens when he falls asleep.





38歲的母親Sarah說，“小Sam看上去健康，快樂，但卻患有致命的疾病，在微笑的時候會停止呼吸或是呼吸不足。如果小Sam不能夠獲取足夠的氧氣，那么他就會暈過去，所以長時間的微笑也是危險的。他需要有人時刻跟隨著他提醒他呼吸。”



He looks like a healthy, happy little boy but he has a deadly condition,” says Sarah, 38. “Even laughing can be dangerous if it goes on for too long, because he will either stop breathing or take very shallow breaths. If he’s not getting enough oxygen he will pass out. He needs someone to bring him round and if necessary get him breathing again.”





兒科咨詢師Martin Samuels來自北斯塔福德郡大學醫院，是此領域的主要專家。他說CCHS或先前為人所知的翁丁咒語綜合征是中樞系統影響呼吸自控的遺傳癥狀。



Consultant paediatrician Martin Samuels, from the University Hospital of North Staffordshire, is a leading expert on the condition. He says CCHS or Ondine’s Curse, as it was formerly known, is a genetic condition of the central nervous system that affects the automatic control of breathing.





患者由于腦干損傷，時常會“忘記”呼吸。特別是在熟睡的時候，這種癥狀格外明顯。而在其他時候，患者可能會呼吸不足從而導致體內二氧化碳堆積（常人呼吸時吐出的廢氣），使得血液含氧量降低。



The fault in the brain stem means those with the condition “forget” to breathe, especially during deep sleep. At other times they may under-breathe, resulting in a build-up of carbon dioxide – the waste gas we usually breathe out – and a fall in oxygen levels in the blood.





Samuels醫生還說，二氧化碳濃度的上升會使患者暈過去，有時會導致腦損傷甚至死亡。



“When carbon dioxide levels rise patients can pass out, sometimes it can lead to brain damage or even death,” says Dr Samuels.





患有先天中樞性換氣不足癥候群的患者需要在晚上進行換氣，重癥者則需要全天24小時進行換氣。就Sam的病情來說，他需要在氣管內接入換氣機。而換氣機幫助他在停止呼吸的時候重新開始呼吸。



He says people with CCHS need ventilation at night, with the severely affected needing 24-hour ventilation. In Sam’s case he’s attached to a ventilator via a tracheostomy at night, which kick-starts his breathing every time it stops. When he gets older he may choose to sleep with a mask on to aid breathing instead. Sam also has a trained carer watching over him while he sleeps in case the shoebox-sized ventilator breaks down. He has a carer when he’s at school, too.





母親Sarah在銀行工作，據她回憶，Sam在出生15分鐘后便停止了呼吸。“當醫生把他抱給我的時候，他是那么得健康和警惕，但像所有的新生兒一樣，很快就開始打瞌睡了。是助產士首先發現Sam的臉變紫的。”



Sarah, who works in a bank, says Sam first stopped breathing 15 minutes after he was born. “He looked perfect when he was first given to me. He was so alert. But like all newborns he nodded off. It was the midwife who noticed he had turned blue.”





通常呼吸問題是心臟功能缺陷的體現，但雖然Sam偶爾停止呼吸，他的心臟卻沒有任何問題。幸運的是負責照顧小Sam的記錄員，早在Sam被確診攜帶此類綜合癥的基因缺陷前，就已接觸過先天中樞性換氣不足癥候群。這種缺陷通常出現在懷孕的前八個星期內，但沒人知其原因。



Often breathing problems are a sign of a heart defect but Sam was given the all clear, although he continued to stop breathing. Luckily the registrar overseeing his care had come across CCHS before and Sam was tested for the gene defect which is associated with the syndrome. The defect occurs in the first eight weeks of pregnancy, though no one understands why.





單親媽媽Sarah現在和小Sam居住在加的夫的Pontprennau，她說“我很慶幸小Sam能被診斷出患有先天中樞性換氣不足癥候群，但這聽起來是那么得可怕。我被告知他可能永遠也不會進食或是說話。我很高興他們錯了，因為小Sam現在既能吃飯也會說話。”



“I was grateful to know he had been diagnosed but it sounded scary,” says Sarah, a single mum who lives with Sam in Pontprennau, Cardiff. “I was also told he might never eat or speak. I’m pleased to say they were wrong as he doesn’t stop doing either.”





小Sam在醫院度過了他生命的前9個月。在獲準回家后的前幾年，Sam的生活近乎與世隔絕，這是因為在沒有人能看管Sam以防他睡著的情況下，母親Sarah是不會帶著他到處轉悠的。小Sam由于做了氣管切開術，所以特別容易受到感染，尤其是耳鼻喉的感染。

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am spent the first nine months of his life in hospital. When he was allowed home, the first few years were very isolating as Sarah couldn’t drive Sam anywhere without another person in the back watching him in case he fell asleep. Because he has a tracheostomy, Sam is also more susceptible to infections, especially those related to the ears, nose and throat.





現在小Sam長大了點兒，生活也相對輕松了點兒。Sarah能夠開車帶著他短距離轉悠，而小Sam在學校里也很積極開朗，交了許多朋友。Sarah作為Sam的監護人，半步也不敢離開他。Sarah知道如果小Sam臉發紅，出冷汗，流汗，或是四肢疼痛，那就說明他體內的二氧化碳濃度在升高。



Now Sam is a little older, life is easier. Sarah can drive him short distances and he’s thriving at school, where he has lots of friends. Sarah is never far away from Sam when she’s his main carer. She also knows if he looks flushed, is clammy or sweaty, or has aching limbs, his carbon dioxide levels are building up.





小Sam在學校的時候暈過去好幾次，慶幸的是，每次都有驚無險。小Sam在必要情況下會佩戴上呼吸器，除此之外，他會被鼓勵做深呼吸。Sarah說：“人們總是說小Sam看上去那么健康，問我為什么還需要大家的支援。但是小Sam每天都會“忘記”呼吸，他患上的是一種隱形的致命疾病。”



He has passed out a couple of times at school although fortunately he comes round quickly. If necessary he is attached to his ventilator but otherwise he is encouraged to take deep breaths. Sarah says: “People often say how healthy he looks and ask why I need so much support. But Sam stops breathing every day – he has a deadly but ‘unseen’ condition.”





Sarah接著又說：“像Sam這樣的孩子過去常常以醫院為家。作為家長，我很努力得幫助支持他，讓他能住在家里。我和其它家長一樣覺得他很了不起，他是那么得聰明，比我想象得更優秀。”



Sarah adds: “Children like Sam used to live in hospitals. As a parent I’ve fought hard to get the support he needs so that he can be at home. Like every parent I think he is amazing. He’s a very bright little boy and he has achieved more than I would have ever expected.





“我真的很以他為榮，我希望他在學校成績優異，然后上大學。患有先天中樞性換氣不足癥候群的孩子們能夠成為社會的一員，他們需要的只是大家小小的支持。”



“I’m really proud of him. I hope he does well at school and goes to university. Children with CCHS can achieve and be part of society – they just need a bit of support.”

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