听到孩子咯咯的笑声，大多数家长的脸上都会扬起微笑，但母亲Sr h Cross却害怕听到儿子S m的笑声。如果小Sam微笑得时间过长，就可能会因此而丧命。现年6岁的Sam患有先天中枢性换气不足症候群。他在焦虑不安，生病，与朋友玩耍，专注观看喜爱的电视节目，甚至是睡觉时，都会“忘记”呼吸。在全英国，此类疾病的患者约有60人。
THE sound of theirhild giggling would make most parents smile it is one that Sarah Cross dreads. If her little Sam laughs for too long it an e 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 reathing. 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.
He looks like a healthy, happy littlehe 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.”
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.
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.
“When carbon dioxide levels rise patients can pass out, sometimes it can lead to brain damage or even death,” says Dr Samuels.
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.
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.”
Often breathing problems are a sign of a heart defectSam 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.
“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.”