Penny Southall has a 14-year-old son. He’s called Dan, he goes to the local secondary school and like a lot of schoolboys, he loves computers. But unlike most of his friends, he is now wheelchair bound and may not live to see his 30th birthday. Dan has Duchenne, a deadly muscle-wasting condition which mainly affects boys.
Already his muscles are weakening due to the lack of the vital muscle protein dystrophin in his body. It means his mobility is seriously compromised and will slowly get worse, leading to life-threatening complications.
Penny found out that Dan had Duchenne muscular dystrophy just before his fourth birthday. If it had been diagnosed earlier, he would have received treatment earlier and though there is currently no cure, it could have increased his life expectancy and made his childhood a bit more comfortable.
It’s why Penny is now part of a campaign to try and get Duchenne added to the list of conditions tested for in newborn babies. “I think newborn screening should go ahead,” she says. “It’s in the best interests for the boys. Early treatment could prolong their mobility and keep them functioning for longer.”
Her comments come as the first ever drug to combat Duchenne was approved by medicines regulators and hailed by experts as ‘historic’.
Last week, Translarna, also known as ataluren, which prompts the body to manufacture a protein that protects against muscle damage which is absent in children with the disease, was licensed under special measures.
Penny hails the introduction of the new drug, but also fully supports the work of the Muscular Dystrophy Campaign and a cross-party group of MPs, who recently recommended that the National Screening Committee update their criteria so that Duchenne can be tested for at birth.
The muscle-wasting condition affects around 2,500 children and young people in the UK, and this update could help the 100 or so babies who are diagnosed each year.
At the moment, Duchenne isn’t one of the five main conditions that are tested for, such as sickle cell disease and cystic fibrosis. The reason is that it doesn’t fit the NSC’s criteria, which says that a condition needs to be:
a) symptomatic at or shortly after birth, and
b) be treatable at or shortly after birth.
With Duchenne, there isn’t definitive data of when boys become symptomatic. It can be six to 12 months after birth, but newborn screening is typically done with a blood test five days after birth, and accurate tests are not available yet.
On top of that, it isn’t ‘treatable’ per se, because there still isn’t a cure. But, all that could be changing and this is why the MPs are so keen for the NSC to update its criteria while it is already carrying out a review of its practices.
Baroness Celia Thomas, a member of the House of Lords and Vice Chair of the All Party Parliamentary Group for Muscular Dystrophy, explains why they’re calling for a change in newborn screening to include Duchenne.
She says that a new treatment is being trialled, and if all goes well, it could be licensed by next year: “At the moment there isn’t a treatment but if and when there is, early treatment will be vital. We don’t want to find there’s a potential treatment but some boys are being diagnosed rather late. That’s why we’re keen to get on with this and we’re hoping we can persuade the NSC to update their criteria.”
Experts are also calling for the new drug to be made available on the NHS as soon as possible. Translarna can be used in children with the specific mutations aged over five who are able to walk
Robert Meadowcroft, chief executive of the Muscular Dystrophy Campaign, said: “This drug is designed for a very specific cause of the condition and can only be used to treat around 10 percent of children and young people affected.
“However, it is a significant milestone, and we are very hopeful other potential treatments in development may soon reach this stage.” It’s a step in the right direction and though it will only help a small amount of people with Duchenne, it does show that treatments are going the right way.
But there is still the problem that it’s hard to tell if Duchenne is symptomatic “shortly at or after birth”. It did used to be available for newborn screening in Wales for around 20 years, only the tests weren’t accurate enough to see if newborns did have symptoms. That’s why the NSC is reluctant to include it again, but Baroness Thomas assures me that an accurate test is being developed.
“It’s no good having an accurate test then saying it doesn’t fulfil our criteria,” she says. “We’re saying don’t be so rigid about this. Even if they put caveats saying it can be done if there’s a kind of treatment. What we don’t want is to lose any time.”
Her reasoning makes sense, and it’s why the MPs are appealing to the UK Government to overhaul this criteria for screening babies. It’s had a good reception, with 82 per cent of parents of children with Duchenne saying they were in favour of it. Early diagnosis would allow parents to anticipate health, housing, educational and emotional needs of their child and to manage the onset of symptoms through cardiac care, physiotherapy and steroid treatments. It would also give parents the information to consider the implications of trying for further children.
Penny says: “If I’d known straight away he could have had the treatment earlier. I was in the process of moving house and the house I was moving to was unsuitable for him. Some people go on to have children two years later and realise both have Duchenne. It’s not to say they might not go ahead and have another boy but you can have screening and IVF to try and avoid it happening again.”
Mum Jeanette George had her son Alex screened through the programme in Wales before it was closed in 2011. She says: “Having the choice to screen Alex was a positive thing for us. Knowing Alex has Duchenne has allowed us to plan and ahead and to manage his symptoms. Alex gets assessed every six months, so any change in his wellbeing will be picked up immediately.”
But not all parents agree with this. Some would rather not have newborn screening, because they’d rather enjoy their child’s life without any complications for as long as possible. Penny, who knows many other families whose kids have Duchenne, says: “Some people feel it’s too much to take on board when you have a small baby and it might prevent you from bonding with him.”
She doesn’t agree with this viewpoint though, pointing out: “Parents do bond with other kids who have obvious disabilities.” She adds: “You’re preventing your child having interventions that could help them. There’s never a good time to find out. That’s part of parenting – you have to accept that things can go wrong.”
Dr Anne Mackie, director of programmes at the UK National Screening Committee, told the BBC: “My duty is to make sure if we do recommend a test to parents, that it is a really good one. But that also we are able to say to parents of a positive test, ‘This is what we can do for you and it will make a difference.’
“I know the APPG is pushing for improvements in tests and there are some exciting developments, but for the moment, we can’t say hand on heart if your baby has this test, this will happen and we can help.”
Like all new initiatives it has its positives and its negatives, but the viewpoint that really matters is that of the children themselves. Penny asks her son Dan what he thinks, and he says: “Newborn screenings would be a good idea to help the whole family adjust.”
Because that’s the thing with Duchenne – it doesn’t just affect the boys, it affects the entire family. It’s why all these families are hoping that the NSC will update their criteria, the more treatments will come in, and new tests will be made so that other families won’t have to go through the same delays that they did.By Radhika Sanghani