Touching Lives - March 2013
Helping Jack to breathe more easily
Jack was born with Down syndrome 10 weeks early, weighing just 3lb 5oz. When he was nine weeks old his parents noticed that his breathing was noisy and he snored. They were also worried about how his chest looked. Little did they know that these were the first signs of a serious breathing disorder which would disrupt all of their lives so severely over the next two years.
“Jack is a very loving little boy who loves his cuddles. He is generally very happy, but can have his cheeky moments. He loves school and misses going during the holidays, really enjoys swimming and horse riding, and is obsessed with Thomas the Tank Engine,” says his mum Jo.
Life hasn’t always been so happy for Jack. He is registered partially sighted, has severe learning difficulties and had two holes in his heart that eventually closed, for which he was on medication for a year. Now aged seven he attends the local special educational needs school.
It wasn’t known when he was born that Jack would also suffer from a breathing disorder called obstructive sleep apnoea (OSA). Children with OSA stop breathing for a few seconds at a time during their sleep and then start breathing again with a rapid gulping for air. OSA disturbs sleep and can lead to problems with growth, learning and behaviour. The condition can also put extra strain on the hearts of children with Down syndrome, three quarters of whom are estimated to suffer from OSA. Unfortunately the effects may be overlooked and assumed to be part of living with Down syndrome.
Early in 2006 Jack was referred to a paediatric consultant. “Prior to seeing the consultant, we were asked to bring Jack into hospital for an overnight sleep study,” Jo says.
“At that time the consultant felt there was no history suggestive of OSA, although we felt Jack’s snoring and sleep were getting worse,” says Jo. A bronchoscopy showed that he had a soft larynx and an obstruction in the throat, at the back of the pharynx.
A further sleep study that year did not go as planned. A cot was not available for Jack and by the time one was found he had become so agitated he had to be taken home. Over the next couple of years they were in and out of hospital. They reached a critical point where Jack was really struggling to breathe at night. Jo says: “I would go to bed when my husband got in from work and get up again and sit with Jack once my husband went to bed, to make sure my son was breathing ok. It was a very hard time for us as a family. I rarely saw my husband except for passing between bed times, and lack of sleep for all of us made for a very unhappy household.”
A sleep study at Southampton General Hospital in June 2008 showed that the level of oxygen in Jack’s blood was very low. Jack was finally diagnosed with OSA. “We were told that
Jack needed oxygen at home while he slept and that his tonsils and adenoids had to be removed within the week. He was rushed off for a chest X-ray and an echocardiogram to check his heart. Luckily these were all okay, but all this sudden activity was very stressful for us,” remembers Jo.
The ear, nose and throat surgeon explained the risks of the operation to remove Jack’s tonsils and adenoids to treat the OSA. The risks of not having the operation were greater though, due to his very low oxygen saturation levels, so it went ahead on 9 June 2008.
“One of the first things my husband noticed after the op was how smooth Jack’s chest looked; he didn’t look like each breath was an effort, as he had before.” The operation had gone well; Jack’s blood oxygen levels were normal, and he was discharged.
Since then Jack has been able to get a full night’s sleep, most nights, with no interruptions.
“For the first few weeks I hardly slept as I was so used to having a little boy who snored; the silence scared me! I found myself constantly in and out of his bedroom checking he was breathing. It took me a long time to get used to it,” says Jo. Following the operation Jack’s better quality of sleep has had a significant and positive impact on his learning ability.
He has started to master most of the gross motor skills relevant to his age,” Jo happily reports. “I wish there had been better screening for OSA as it would have saved us having to go through a really scary time, which I wouldn’t wish anyone else to go through,” says Jo.
Action Medical Research is funding research at the University of Southampton into tests for OSA. The aim is to provide the missing evidence so that doctors can introduce affordable and simple routine screening. It is hoped this will improve diagnosis, so more children like Jack can benefit from early treatment for this potentially serious condition.
“The research funded by Action to evaluate methods of routine screening for OSA is wonderful as far as I’m concerned – and no doubt other parents of children with Down syndrome will too; especially as the tests can be performed in the child’s home.”
“As well as the obvious benefits for Jack, the improvement in his sleep also means that my husband and I now get a decent amount of sleep, which not only benefits us and our relationship but how we interact with our son too!” says Jo.