‘I'm 26 and slowly dying. In 10 days I'll find out if the NHS can give me a life-saving wonder drug'

Telegraph

5 days ago

Early last year, 26-year-old Caitlin Monachan received a devastating diagnosis. She has Niemann-Pick disease, an ultra-rare genetic disorder caused by a missing enzyme, where toxic material builds up in the body, fatally damaging the lungs, liver and spleen. There is no cure – but there is a wonder drug that considerably extends life, not by years but by decades. In adults the drug Xenpozyme could mean 30 more years of healthy life. For a child with early access, it could mean normal life expectancy.
Xenpozyme is saving patients' lives in 22 countries around the world. But not Monachan's. The drug has been rejected for approval for use on the NHS, and in a little over a week's time the window for renegotiation closes for good. For Monachan and other patients like her, that is tantamount to a death sentence.
'It's gut-wrenching, it's heartbreaking, that I don't get the treatment just because I live in the UK,' Monachan tells me when I visit her in Belfast. 'There is one other person in Northern Ireland [with Niemann-Pick disease] who has the treatment on compassionate grounds. Why does she get it and not me? If I want a fulfilling life, I need it. It can get your symptoms back to normal. I just want to be normal.'
Monachan's doctor had applied for compassionate use, where patients with serious or life-threatening conditions are given drugs not yet approved for general use when no other suitable treatment options are available, but the request was denied.
Monachan is the loser in a cruel drug lottery. Soon after her diagnosis, the National Institute for Health and Care Excellence (NICE) announced it would not approve Xenpozyme for use on the NHS as it is too expensive. Despite lobbying from NPUK, the only UK charity dedicated to the condition, the NHS, NICE and Sanofi – the pharmaceutical company that developed the drug – have shown no flexibility on price, meaning that negotiations are at a stalemate. Toni Mathieson, the chief executive of NPUK, explains: 'NICE have indicated that there is still a window for negotiation… but the deadline is 10 days away on August 1. If nothing changes, the window to secure access will then close indefinitely.'
That's why NPUK is desperately trying to change the tides on this devastating decision, led by Mathieson, who herself has lost three children to the disease. Earlier this month, Mathieson attended the All-Party Parliamentary Group on rare, genetic and undiagnosed conditions in Parliament. Her mission was to lobby MPs to signal to Sanofi that the NHS is willing to go back to the negotiating table. The charity has urged people to write to their local MP, to Wes Streeting, the Health Secretary, and to Paul Hudson, Sanofi's chief executive. With the final deadline fast approaching, Monachan and her family are losing hope.
We are speaking at the kitchen table in Monachan's flat-share, while her mother, Moya, joins on the phone from Germany. Despite living in different countries, it's clear they are close. 'When she got her diagnosis, I said, 'You were Caitlin yesterday, and the only difference is you're Caitlin today with an answer, which is always a good thing,'' Moya says. 'We had the encouragement of knowing that there was a treatment that's curative.' Finding out that it wasn't available for Monachan, however, was like a 'gut punch'.
For as long as she can remember, Monachan has suffered a range of debilitating and seemingly random symptoms. Growing up in southern England, she had persistent migraines, fatigue and insomnia, and broke so many bones she was jokingly nicknamed 'Calamity Caitlin' by her family. She bled excessively from minor injuries. 'I bleed a lot because I don't tend to clot,' she says. 'So I'm on my period for 20 days of the month, which is hard.' She is small, but so is her mother, so her parents didn't think anything of it. An optician once noticed that she had a cherry-red spot on her retina – another telltale sign of Niemann-Pick – but it is so rare that no one connected the signs.
It was when the family moved to Munich for her father Andrew's job in the automotive industry, in 2014, and got private health insurance that a doctor discovered other unusual symptoms during a routine medical examination: high cholesterol and an enlarged spleen. Monachan was prescribed statins, and after finishing school, moved to Belfast to be near extended family while she completed a college course in professional cookery. A part-time job at a restaurant chain followed, but Monachan continued to struggle with overwhelming fatigue and bone pain. 'When I come home from work, I have to soak my feet in the bath for an hour because my bones get so sore,' she says. She cannot socialise like other people her age, or work full time.
The reason for this remained a medical mystery until she was referred to Dr Paul Hamilton, a consultant chemical pathologist in Belfast who runs a specialist clinic for lipid disorders. 'He asked, 'Have you ever heard of Niemann-Pick disease?'' Monachan says. 'I was just like, no. And he explained that it's a disease that affects the fat breakdown in your body because you don't have a particular enzyme.'
'Looking at Caitlin now, you'd think she was fine,' Moya says of her daughter. 'But that's how she is now, that's not her future. Caitlin has no guarantee of life expectancy. There's no guarantee she will stay this way – the build-up in her organs will impact her life more and more.'
Xenpozyme stops this build-up in its tracks by replacing the enzyme – acid sphingomyelinase – that is deficient in patients with Niemann-Pick disease. The drug has been in development since the late 1990s, and in such a small community of patients – around 36 people in the UK have Monachan's subtype of the condition – many of that number were actively involved with clinical trials in some way. It is so rare, in fact, that every sufferer in the UK – or their parents or caregivers – can gather for an annual conference run by NPUK. Monachan attended in April this year. 'I got to meet so many other people with the same condition,' she says. 'Unfortunately for me, most of them are actually on treatment on compassionate grounds. That was really frustrating to hear.' There is no guarantee, however, that their treatment can continue.
To say that the medicine is expensive is something of an understatement. NPUK estimates that giving 36 patients access to Xenpozyme would cost the NHS £20m a year – about 0.01 per cent of the total NHS budget. The charity says it does not know the cost per patient, but NICE guidelines for the condition state that the medication costs £3,612 per 20mg vial, excluding VAT. It is administered through fortnightly infusions at a recommended dose of 3mg for each kilogram of body weight, so, based on these figures, each treatment would cost nearly £38,000 for a person who weighed 70kg. However, for such a small group of patients, the charity still believes the drug could be affordable if Sanofi, the French pharmaceutical company that produces it, and the NHS could be persuaded to go back to the table.
'We aren't allowed to be involved in the negotiation on cost, but based on the information that we have, we believe that it will cost £20 million a year,' says Mathieson. She describes this as a 'small amount to save people's lives'. She adds, 'I really feel there is no point in developing a drug if the people who it's meant for can't access it. Surely there has to be an answer or an arrangement that can be reached?'
Mathieson's eldest daughter, Lucy, was diagnosed with a severe form of Niemann-Pick at five weeks old. 'She didn't meet any milestones. She never walked. By the age of two, she could crawl a little bit, but by the age of two and a half, she'd lost all of those skills. And from then, we were on a bit of a slippery slope to the end, really.' In that time, devastatingly, Mathieson and her husband had two more children who died shortly after birth from Niemann-Pick. Lucy defied doctors' predictions of her life expectancy and survived for two more years, but died aged four.
'As a mum, the only thing that brought me hope was the hope of a treatment or a therapy that was just around the corner,' Mathieson says. 'Of course, our patients and families have lived with that hope – and now they're being left with no choice but 'best supportive care', which means visiting hospitals a lot and experiencing increasingly challenging symptoms that are progressive and severe and will lead to an early death.'
When contacted, a NICE spokesman said: 'We were disappointed not to be able to recommend olipudase alfa [the medical name for Xenpozyme], and we realise the decision was disappointing for people with Niemann-Pick disease and those who care for them. Unfortunately, both the company's and the independent external advisory group's cost-effectiveness estimates compared with standard care were over £300,000 per quality-adjusted life-year gained.
'So even when taking into account the substantial effect of olipudase alfa on quality and length of life, the cost-effectiveness estimates are higher than what NICE usually considers an acceptable use of NHS resources for highly specialised technologies.'
Francesca Buzer, an Essex-based mother of two boys, has seen the difference the drug can make first hand. Her son Dexter was just one when he became ill. 'As a baby, he was completely fine, and then when he was about one, I started to notice that he had a really bloated belly,' she says. 'I thought he had some kind of food allergy.' When his stomach got so large he was struggling to eat, Buzer took him to the doctors.
'That August, when he was about one and a half, I had him seen, and they said he had an absolutely giant liver and had to go straight to hospital.' Dexter's liver and spleen were so big they stretched from his chest to his groin. 'I thought he would die,' Buzer says. 'It was a very traumatic, scary time.' The local hospital didn't know what was wrong, so they were transferred to King's College Hospital in London to see a liver specialist, and then to Evelina London Children's Hospital.
'They told us that he had Niemann-Pick disease, that it's extremely rare, and that at that point there was nothing available to help him,' Buzer says. 'Everything fell apart. However, there was a drug that's compassionate-use only, and they would have to put a case together for Dexter and wait for that. He was accepted in March 2023, and it changed his life overnight.'
Within three months, he had bounced back to being like any other boisterous, energetic four-year-old. He was able to attend pre-school for the first time (before the medication, he wasn't allowed to go because of the risk of infection). 'He's such a friendly little laddie, very cheeky and confident. It's been amazing,' Buzer says. 'I don't know what else to say – it's been completely life-changing.'
Dexter's access to the treatment is secured despite NICE's decision not to approve it for us on the NHS. But that has done nothing to assuage Buzer's worries about it being stopped in the future. 'That's scary – really, really scary,' she says. 'There's always a what if. What if it stops? They could stop it at any point if they don't want to pay out for it anymore.' That's what it boils down to, for her, for Monachan, and for everyone affected by this cruel disease: the value of their life being calculated in monetary value. It's now the final countdown. Will they be saved?