Like a ‘punch in the stomach’, is how Megan Willis felt on hearing that her eight-week-old baby with partner John Hall had a life-limiting muscle-wasting disease.
‘It was devastating — almost too much, too painful to process,’ says Megan, 29, an events manager, who lives with John, 36, a retail manager, in Colchester, Essex.
Little Edward has the genetic condition spinal muscular atrophy (SMA), in which the lack of a protein called SMN, vital for muscle development and movement, results in progressively weaker muscles.
Until three years ago there was no treatment and babies affected by Type 1 — the most severe form — gradually lost the use of their muscles before dying, usually before age two as a result of breathing problems caused by weak chest muscles.
Eight-week-old Edward (pictured with mother Megan Willis, 29, and father John Hall, 36) has the genetic condition spinal muscular atrophy (SMA)
Yet there was a glimmer of hope. The consultant who gave them the heartbreaking diagnosis said a one-off jab could halt Edward’s rapid deterioration. The catch — it costs £1.7 million.
Zolgensma is thought to be the most expensive drug in the world.
Babies with SMA have a faulty or missing SMN1 gene so can’t make enough SMN. Zolgensma replaces this gene. The corrected gene is put into a virus (that’s had its DNA removed) which is then injected into the baby’s hand.
The gene starts making the SMN protein which prevents the loss of motor neurons — nerve cells that help co-ordinate movement in the spinal cord. These neurons send signals to the muscles.
In a study of 15 babies treated with Zolgensma published in the New England Journal of Medicine in 2017, all 15 were alive at 20 months of age, compared with 8 per cent among an untreated group from the past.
Twelve of the children received a higher dose, and at 20 months 11 could sit unaided and two walked independently.
Sixty children in the UK are born with SMA every year.
Zolgensma is not yet available in the UK on the NHS or privately. It is being appraised by the National Institute for Health and Care Excellence (NICE), with a decision expected by March. It is prescribed in other countries including the U.S., Germany, Brazil and Japan.
So the only way for Edward to get the jab is for his parents to raise the money for treatment abroad. Since last month they have received more than £120,000 in donations through a crowdfunding site — a fantastic sum, but still a fraction of what’s needed.
‘£1.7 million is a lot of money but it is a one-off treatment and research has shown that children who have been given it are surviving and thriving five years on,’ says Megan.
‘We would love to see Edward walk and talk and this offers the best chance. Wouldn’t all parents want the same?’
Many parents may find themselves in the same boat, as this isn’t the only highly expensive treatment.
Gene therapy drugs such as Zolgensma represent a new era in medicine — providing solutions for some of the 7,000 rare diseases affecting 3.5 million people in the UK, for which there has formerly been little hope.
But there are fears that high costs will stop patients getting these new drugs.
Ms Willis was told a one-off jab costing £1.7million could halt Edward’s rapid deterioration
Zolgensma is only the third gene therapy drug to be approved in Europe — the first, licensed in 2012, was Glybera, a treatment for lipoprotein lipase deficiency, a rare inherited disorder which causes a build up of fats in the blood. It cost £750,000 and hit the headlines as the first million-dollar treatment.
The second, Luxturna, involves injections into the eye to correct a pair of faulty genes that cause retinal dystrophy (known to cause tunnel vision), affecting about 100 people in the UK.
This costs £613,000 per patient for a one-off treatment. Approved by NICE in September 2019, so far only a handful of people have had it (due to Covid-19 delays).
But it’s not just gene therapy drugs that are so expensive.
Families of children with a type of Batten disease, a neurodegenerative condition that robs them of the ability to move and speak, faced a fight to convince NICE that a £500,000-a-year enzyme replacement drug called Brineura was worth paying for.
‘We had children dying before they could get the drug, but after two parents threatened a judicial review [where a court scrutinises the decision of a public body] and we involved MPs, NICE did approve the drug in September last year.
So far 23 children have been treated,’ says Amanda Mortensen, chief executive of the Batten Disease Family Association charity. ‘The drug company lowered the price, but we don’t know what it was.’
Drugs for rare conditions tend to be more expensive as fewer people need them. Pharmaceutical firms say they need to charge more to recoup costs. That can be a lot — but not as high as some claim.
The 10 most expensive drugs in the world
1. Zolgensma: £1.78 million one-off injection for SMA. Under review by NICE.
2. Glybera: £750,000 treatment for rare lipoprotein disease that causes fats to build causing severe pancreatitis, now withdrawn from European market.
3. Luxturna: £613,000 injection for retinal dystrophies and rare eye conditions, such as tunnel vision. Available on NHS.
4. Ravicti: £592,403 annual cost for urea cycle disorders (caused by enzyme deficiency which makes it hard for the body to eliminate waste proteins). It is available on NHS.
5. Carbaglu: up to £589,498 a year (although typically half this price) used to treat patients with elevated ammonia levels caused by enzyme deficiency. Available on NHS.
6. Soliris: up to £525,000 a year, used for rare blood disorders. Available on NHS.
7. Brineura: up to £525,000 a year for CLN2 (a type of Batten disease, a genetic neuro-degenerative disorder). It is available on NHS.
8. Elaprase: up to £490,319 a year for treatment of Hunter syndrome, a rare enzyme disorder. Available on NHS.
9. Lumizyme: minimum cost £388,024 a year for Pompe disease, a genetic condition where sugar molecules accumulate in tissue and organs. Available on NHS.
10. Spinraza: Costs £450,000 to treat SMA for the first year and £225,000 in subsequent years for life. Available on NHS.
SOURCE: Ten most expensive drugs in the world by Pharmaoffer.com
A study in the Journal of the American Medical Association by the London School of Economics (LSE) and the London School of Hygiene & Tropical Medicine found developing a new drug could cost £1.1 billion less than claimed.
Dr Olivier Wouters, an assistant professor of health policy at LSE and the study’s lead author, says: ‘If drug companies want to keep claiming these costs justify soaring prices, they need to make their data available for public scrutiny.’
Prices are generally agreed with the NHS on a confidential basis, says David Watson, director of economic, health and commercial policy at the Association of the British Pharmaceutical Industry.
‘Sharing of prices would undermine the industry’s ability to ensure an appropriate price is paid in each context, and undermine the NHS’s ability to secure the best deal.’
And yet, as Khai Lam, a spinal surgeon at the HCA’s Portland Hospital for Women and Children, says: ‘You have to ask, how can the cost be justified?’
To Edward’s parents — who have already witnessed a rapid decline — the gift of health is priceless.
Edward seemed healthy when he was born in September. But weeks later he began choking and was taken to A&E.
He was transferred to Addenbrooke’s Hospital, Cambridge, with a suspected infection and put in a medically induced coma.
After three days he seemed fine when brought out of the coma. But a nurse noticed his arms were floppy — and a neurologist said this, plus little movement in his legs, suggested SMA. Only a blood test could confirm this, and she said it was likely to be positive.
‘It was heartbreaking to see him go downhill so rapidly — when he came out of hospital after a week he was barely moving,’ recalls Megan.
He is now having Spinraza injections on the NHS. It is the first SMA treatment in the UK and is costly — £450,000 for the first year and £225,000 for each after that.
It replaces the missing SMN protein rather than correcting the faulty gene that makes it. Rather than being a one-off shot, it’s injected between vertebrae with a large needle every four months.
UK Novartis Gene Therapies, Zolgensma’s makers, say the drug is cost-effective as it’s a one-off jab, and very few children have SMA so the impact on the NHS budget will not be great.
‘The beneficial effects of a one-time infusion are designed to be lifelong.
‘Current treatment requires regular spinal injections in hospital for life that could cost millions of pounds,’ says Sally-Anne Tsangarides, Novartis Gene Therapies’ general manager.
Trials have yet to prove if Zolgensma is better than Spinraza. ‘We are lucky Edward began NHS treatment with Spinraza two weeks ago,’ says Megan. ‘But he’ll need ongoing treatment.’
She and John pray Zolgensma will be approved by NICE — so are pressing ahead with fundraising.
Megan says: ‘You can’t put a price on what this would mean for Edward.’
If you would like to help, go to: helpforedward.com. Watch more on this story at mailplus.co.uk/health