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In just a few years this lively little boy will be left's a tragedy that could hit any by he ni

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In just a few years this lively little boy will be left's a tragedy that could hit any by
Article Posted: 01/06/2013
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Articles Written: 1145
Word Count: 718
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In just a few years this lively little boy will be left's a tragedy that could hit any

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Last year, exon skipping was tested in a clinical trial involving19 patients (aged five to 19) at Great Ormond Street Hospital forChildren NHS Trust and the Royal Victoria Infirmary, Newcastle. After just 12 weeks, seven of the patients given a weekly injectionat the highest dose had some degree of dystrophin productionrestored and suffered no side-effects. And a similar trial at an advanced stage in the U.S. is alsoshowing promising results. While it is not a cure, if this treatment is approved, the hope isit could turn Duchenne into a milder form of the disease —Becker muscular dystrophy.

Patients with this often have a normal life expectancy and theydon't suffer from problems until they are into their 50s and60s. Even then, the problems are milder than those associated withthe Duchenne form. Exon skipping is an extraordinary development, says ProfessorFrancesco Muntoni, a lead researcher from Great Ormond StreetHospital. 'I've worked with patients with Duchenne muscular dystrophyfor many years, and this is the first time we can say withconfidence that we've made a significant breakthrough.' Dr Marita Pohlschmidt, director of the Muscular Dystrophy Campaign,adds: ‘Parents of these boys can have real hope for thefuture.' The concern is that the process of completing further clinicaltrials and getting the drugs onto the market is painfully slow.With funding, it can take two years, but without investment itcould take several years longer.

‘Most of the funding for research into this comes frompeople rattling tins on our behalf,' says Keith Foster, ascientist specialising in gene therapy at Royal Holloway Universityof London. ‘The fact is we have the technology to tackle thisdevastating disease, but we don't have the funding we need todo it quickly. ‘These patients and their parents are facing a ticking clock.The best hope for these boys is to treat them quickly before theirmuscles are damaged too badly, so we need to act. ‘We have a real treatment here that might extend life by 40years, and the cost of developing these molecule patches isrelatively small. We can't afford not to treat thesechildren.

'The Government has to look at its research funding and startshifting its priorities to gene therapies. It's spendingbillions on antibiotics, many of which people don't reallyneed now.' Jack Johnson's family has set up a charity, JoiningJack, toraise vital funds for this kind of essential research. ‘We've had the greatest pleasure watching Jack developinto the amazing boy he is today, but now we must prepare ourselvesfor his steady decline,' says Andy. ‘And the worst part is seeing him struggle as his body wastesaway and being powerless to help.

We have always wanted a quietfamily life and have never felt comfortable asking for anything,but now is not the time to be proud. ‘We can't sit back and see Jack ravaged by thiscondition if there is any chance that we can make his future a morepositive one. Our dream is to keep Jack on his feet for as long aswe can.' Meanwhile, the couple also face the agonising decision of when totell Jack about his condition. ‘He's still too little to know something is seriouslywrong,' says Alex. ‘But when he falls over or struggles to keep up with otherchildren, I can see the frustration in his face.

‘The other day we went to watch a children's rugbymatch and Jack asked me afterwards if he could have a horse. ‘When I asked him why, he said the horse would help him tokeep up with the other children. That made me cry. ‘And it will only start to get worse as he gets bigger andasks questions.

It's something we have to face — butit's important for me that I tell him that things arechanging and there is help out there for him. ‘There is a treatment on the horizon, and it's like acarrot that we want to grab. ‘I want to be able to tell him he has this condition knowingthat treatment is close enough to help him before it's toolate.' For information about the family's campaign, go For information about the condition, go to

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