Trainers and wellies belonging to Liz and James Lockley’s seven-year-old twin boys sit side by side in their home in Welwyn Garden City. While Harry’s are scuffed up and covered in mud, George’s are pristine.
‘Sometimes when I’m sorting through the washing, I’ll find a pair of trousers with the knee worn through and I’ll know they can’t possibly belong to George, they must be Harry’s,’ says Liz, 35, a primary school teacher.
‘It catches me off guard and for a moment I allow myself to imagine what life might have been like if George wasn’t confined to his wheelchair.’
Though not identical, the boys share a close relationship. But while Harry grows stronger and masters new skills every day, George suffers from the neuromuscular disorder Spinal Muscular Atrophy (SMA), which stops nerve cells delivering messages to the muscles, and is gradually getting weaker, losing strength in his limbs and torso.
There is a drug that can stop the disorder progressing — and even reverse some of the damage. However, doctors and charities say that flaws in the way medicines are approved in the UK mean children such as George could miss out.
Approximately 1,300 children and adults in the UK are living with the devastating effects of SMA. Each year, over 40 babies, around 50 to 70 per cent of cases, are born with the most severe form, type 1, which has an average life expectancy of around 18 months.
With type 2 — which George has — and type 3, symptoms appear later, and children can live well into middle age. Type 4 appears in adulthood and carries normal life expectancy.
One of the cruellest aspects of SMA type 2 is that children are born apparently healthy, with the first symptoms of muscular weakness only becoming apparent around the age of seven months.
The Lockley twins were born on January 28, 2011: George first, weighing 7lbs, closely followed by his twin brother, Harry, at 6lbs. ‘They were the picture of good health,’ says Liz. ‘They both continued to progress really well.
‘If anything, George was ahead of Harry. He smiled first, babbled first, laughed first and rolled over first. They were just gorgeous, happy, active little boys.’
The Lockely Family: Elizabeth Lockley and her husband James who have three children, seven-year-old twins, Harry (R) and George (centre) and 2-year-old Abigail (L)
George was about eight months old when Liz became concerned that his leg and neck muscles seemed weaker than his brother’s. ‘When Harry stood up and took his first few wobbly steps at 11 months, it was a bittersweet moment,’ she says. ‘I knew for certain that something wasn’t right with George.’
Genetic tests at Great Ormond Street Hospital just before George’s first birthday revealed he had SMA. ‘We were in deep shock, existing on autopilot really, for a very long time,’ she says. ‘Grieving for the future that had been taken away from us.’
The months that followed were a blur. Harry was off, gaining new experiences and George was desperate to follow, but couldn’t. Liz remembers being at a playgroup with the boys, soon after George’s diagnosis, singing: ‘If you’re happy and you know it stamp your feet.’
‘Harry stamped and George just looked very confused because he couldn’t make his feet move. I felt joy for Harry, but my heart was breaking for George.’
It is an unbearably cruel situation and one made even more agonising by the fact that a drug has recently become available that could halt or even reverse some of this damage, but it isn’t available on the NHS to children like George.
The drug Spinraza works by increasing the body’s ability to produce a protein critical to the health of the nerve cells that carry messages along the spinal cord to the muscles.
It has proved so effective — milestones such as rolling and sitting were improved by as much as 40 per cent in type 1 children treated with Spinraza — that clinical trials were stopped early. But other countries have acted much more quickly to make Spinraza available to patients. In December 2016, the US Food and Drug Administration approved Spinraza for all SMA types.
And in April 2017, the European Medicines Agency recommended it should be marketed in the EU for all SMA types.
Biogen, the company which developed Spinraza, immediately offered it free to type 1 children here and it has recently proposed a short-term agreement which would mean all SMA patients could get it free, with the NHS picking up only the costs of the procedure. (Spinraza is given via lumbar puncture six times a year in the first year, reducing to four in the second, then three times a year thereafter at a cost of £75,000 per vial.)
But even that hasn’t been straightforward. Many type 1 children missed out because there was no England wide policy agreeing NHS trusts would pay for the cost of the lumbar puncture until August 2017. Doctors feel far too much time has been lost already and that children who could benefit from the drug are suffering.
‘The elephant in the room is the cost,’ says Professor Francesco Muntoni, a paediatric neurologist and expert in neuromuscular disorders at Great Ormond Street Hospital.
Unfair: George (R) suffers from the neuromuscular disorder Spinal Muscular Atrophy (SMA)
‘This drug is very expensive and we need to start discussing how much NHS England is willing to pay. I want to give Spinraza to all my patients but I cannot, because at the moment there is no mechanism for it to be made available.’
NICE is only just beginning its lengthy appraisal process, and charities and doctors are warning that without changes to the system, Spinraza will never be approved.
‘The proposed interim scheme to make Spinraza available in the short term is welcome,’ says Robert Meadowcroft, Chief Executive of Muscular Dystrophy UK.
‘But this is only a temporary fix and it exposes a much bigger problem with our system for approving new drugs. NICE has just two routes to assess treatments, neither of which are suitable for Spinraza.’
The first route, the Single Technology Appraisal Route, takes six to nine months, and is used to appraise drugs for common conditions such as hypertension — cost-effectiveness is a key consideration but SMA affects too few people to qualify.
However, with 1,300 patients, SMA isn’t rare enough to be eligible for the other route, via Highly Specialised Technology appraisal, which takes nine to 12 months and is for rare diseases affecting under 500 sufferers — the cost effectiveness criteria is much higher for these drugs, which cost thousands per patient.
Without a change to the system, Spinraza is unlikely to be approved, delivering a crushing blow to families such as the Lockleys. ‘While we wait for the interim scheme to be implemented, the clock ticks away for those affected by this devastating, life-limiting condition,’ says Muscular Dystrophy UK’s Robert Meadowcroft.
It is six years since George’s diagnosis but Liz has never forgotten the consultant’s words: ‘You have a very severely physically disabled child. He will never stand or walk, and a chest infection could end his life. There is no treatment and no cure.’ It still feels like a body blow.
Liz and James, 36, an equity trader, have spent so long coming to terms with George’s illness, the news that an effective drug has been trialled — but George can’t have — has rocked them to their core.
‘It is incredibly painful watching George struggle and get weaker,’ Liz says. ‘But knowing there’s a drug out there that could stop this happening has made everything much, much harder.’
Evidence suggests the earlier Spinraza is given, the more effective it is. At six, George’s spine was straight. In the past 12 months, despite regular physiotherapy and a spinal brace, he has developed a 35-degree curvature. And with every growth spurt the curve will increase, because his steadily weakening muscles cannot support his increasing weight. Liz is under no illusion that Spinraza is a cure, it isn’t, but it could help George retain some strength.
‘It is incredibly painful watching George struggle and get weaker,’ Liz says. ‘But knowing there’s a drug out there that could stop this happening has made it much, much harder’
‘One of the worst aspects of SMA is that George can’t cough effectively so a chest infection could kill him,’ she says. ‘If Spinraza could give George the ability to cough effectively then SMA would no longer be such a threat to his life.’
‘There is no question that this drug works,’ says Professor Muntoni. ‘Yet we are the last country in the western world to evaluate it. The NICE appraisal route is a very long and torturous path and it is taking a very long time quite frankly. I know if my child was affected, I would like them to have the drug as soon as possible.
‘In the 20 years I’ve been a consultant there has never been a drug for children with neuromuscular conditions so it is very difficult to remain unbiased. This drug needs to be given to all patients as soon as possible, because in some cases it’s the difference between life and death.’
After George’s diagnosis, Liz was consumed by thoughts of all the things they’d never do as a family — bike rides, walks on the beach or football in the park. In fact, they’ve done all those things. George has a special tricycle and he plays Power Chair Football. ‘He’s a great swimmer, he’s even done some modelling for Gap Kids,’ says Liz. ‘He is such an amazing personality,’ she says. ‘He’s an extremely confident, intelligent, patient child. His personality really does give him the tools to cope.’
But watching Harry kick a ball round the garden at the weekend made Liz think for a moment about what might have been. ‘I try not to dwell on it,’ she says. ‘But it’s hard not to wonder. One of the most upsetting things is watching George’s pride in Harry’s achievements. And I think Harry does sometimes hold back because he feels guilty he can do things his brother can’t.’
Two years ago, Liz gave birth to a daughter, Abigail. Liz had genetic testing while she was pregnant to make sure she wasn’t carrying a child with SMA. ‘I was worried George might feel upset when his baby sister learned to walk, but instead, he was busy counting her steps and offering her encouragement,’ she says.
Liz’s biggest fear is that George will lose the ability to feed himself before the drug becomes available and he’ll lose his independence. ‘As his parents we feel we are being forced to stand by and watch that happen, knowing there’s something out there that can help him,’ she adds.
In 2015 parents of children with the muscle-wasting disease Duchenne Muscular Dystrophy, faced a similar battle when the drug, Translarna which has the potential to delay the loss of the ability to walk, failed to get approval from NICE via the drugs for rare diseases route.
It took months of lobbying, with children delivering letters to David Cameron before the drug was finally made available in July last year via an agreement to treat a small group of children still able to walk. Under a managed access agreement, a drug is made available for a limited period, often at a discounted price, to allow evidence to be gathered.
A similar arrangement is now being discussed for Spinraza, potentially delaying its delivery and with the risk that some children will not get it at all. ‘Spinraza is just one of many drugs that face this challenge because we don’t have an alternative process for these rare diseases,’ a spokesman for Biogen says. ‘It is clear we desperately need to identify a third way.’
To find out more about the campaign for those with muscle-wasting conditions to get rapid access to treatment see: muscular dystrophyuk.org/fast-track