I expected to die in my 20s. Now a miracle cystic fibrosis drug has given me my life back

In 2020, life expectancy for people with cystic fibrosis was just 36. A new drug available on the NHS may be about to change that

Emily Pink, 21, has cystic fibrosis, a rare genetic disorder that causes a build-up of sticky mucus in her lungs and digestive system. She remembers a childhood filled with hospital stays brought on by normal coughs and colds, and endless invasive tests. 
“I was very sick, with all sorts of different infections that were stubborn and aggressive,” she says. Her airways were so full of mucus that doctors had to pry them open with forceps to examine them, and every night she coughed so badly that she had to sleep sitting up. 
By 14, doctors expected she’d one day need a lung transplant. Then, at 17, Covid hit. “I was classed as clinically extremely vulnerable, so I couldn’t leave my house for months,” she says. “I felt so depressed that I didn’t even go into my own garden.” 
Life expectancy for those with cystic fibrosis was just 36 years then, in 2020, “but there are people [with the disease] who get very ill and who die much earlier than that. I had always thought that I was going to be one of them.” 
That was before Kaftrio – the latest in a new generation of cystic fibrosis drugs that alleviates symptoms of the disease, with an impact not short of miraculous. Emily was given the drug as soon as it became available in Britain, during the second Covid lockdown. “It came right as I needed it, when things were really dire,” Emily says. She felt its benefits “overnight”. 
“Half an hour after taking it I was coughing and coughing, but it was a different sort of cough, like someone had given me a hard shake and all of the infections and blockages were coming out,” she says. 
“For a long time, if I was having a conversation, I’d have to stop halfway through every sentence to catch my breath. After two days I could speak normally.” Once averaging 50 per cent, Emily’s lung function had recovered to 90 per cent within a fortnight. A person without cystic fibrosis is considered healthy if their lungs function at just 75 per cent of their capacity.  
Since then, at least 7,950 people in Britain have been given Kaftrio, after years of campaigning by the Cystic Fibrosis Trust for the drug to be made permanently accessible for all on the NHS. Its enormous price tag, somewhere between £100,000 and £200,000 per patient, per year – the exact cost has never been revealed – makes it one of the most expensive drugs ever approved. 
In the end, though, the reasoning was simple: Kaftrio had the potential to extend the lives of people with cystic fibrosis by decades. That much was clear as soon as the first trials for this new generation of “modulator” drugs, which work on cystic fibrosis by tackling its root genetic causes, were under way. 
Former cricketer Stuart Priscott, 53, was one of the first in the country to try them after joining a clinical trial in 2016. Like Emily his lung function skyrocketed, which “means that you’ve got more oxygen, so you do more things, you have more energy, you sleep better,” he says. 
“I used to be in and out of hospital with different infections, for antibiotics on an IV, which hasn’t happened since the trial. Even the doctors leading the trial had no idea that it would be so effective.” 
Priscott’s brother has cystic fibrosis, too, and now takes Kaftrio. “We both call it a miracle drug,” Priscott says. “It’s not a cure, but it doesn’t half feel like it.” 
Priscott is right that modulator drugs are not a cure, says Jane Davies, a professor in paediatric respirology at Imperial College, London. Doctors are extremely optimistic about the prospect that “life expectancy [for people with cystic fibrosis] could rise to well above 50, and possibly even into what we’d call a more normal range,” she says, but “we need to be a bit cautious.”
“People still have to take these drugs every day or the damage will come back,” Prof Davies explains. “We don’t have the evidence yet to show whether the drug will be as effective after 20 years, or even five.” 
But still, such dramatic transformations as Emily’s have not been all that rare. “A large proportion of people who had expected to be put onto a waiting list for a lung transplant, or actually were already on one, have recovered sufficiently to come off it,” Prof Davies says. 
“As with any drug you’ll see some people respond very strongly to it, while others show a more moderate response. In some cases, lung function doesn’t go up enormously, but the change is still large enough that people are able to stay out of hospital.” 
Cystic fibrosis is caused by faults in a gene called CFTR, which gives the body “instructions” to produce a protein that regulates salt and water in the body. “If that gene is missing or malfunctions in the lungs, the surface of those tissues becomes very dehydrated, which means that bacteria can’t be cleared in the normal way,” Prof Davies explains. 
Kaftrio and other modulators “act on the CFTR protein and make it function more normally,” Prof Davies says, allowing blockages to be cleared more easily and leading to such dramatic changes in lung function. 
All people have two copies of this gene in their bodies, and two mutated ones are needed to produce cystic fibrosis. Just 11,000 people in Britain are living with the disease, but “around one in every 25 people are carriers of one faulty gene,” Prof Davies says, making it “really common in the population.” 
By the time a person with cystic fibrosis reaches adulthood, their lungs are likely to have been severely damaged. The disease can also affect the liver, sinuses and pancreas. Half of all adults with the disease are diabetic because of pancreatic damage, and men with cystic fibrosis are often infertile. 
This damage can’t be reversed by these new drugs, and still some miss out. Modulators like Kaftrio “only work on people with the commonest variants” of the CFTR gene, Prof Davies says. Around 85 per cent of all those with the disease have at least one gene that can be treated with Kaftrio. 
As well as his brother, Priscott’s sister also had cystic fibrosis and her symptoms were “the most severe out of the three of us,” he says. She was one such sufferer that couldn’t take the drugs. Her health worsened as Priscott and his brother recovered, and she died shortly after receiving a lung transplant, after many years spent in and out of hospital. 
Though Priscott had frequently visited different hospitals since his childhood, “overnight stays only started when I reached my thirties, for chest infections that were hard to shift, and various other therapies.” Perhaps the greatest change of all, he says, is that the drugs have returned him to live a life untethered to hospital check-ins and IV drips.  
“You end up using a lot of life trying to stay well. The modulators stop all of that, and give you a lot more time back in the day. You feel so much better, like you’re living a normal life instead of living with an illness.” 
Four years on from taking the drug, Emily is a first class graduate – having partied at university like her friends – and a healthy, happy young person. Her doctors now think that she’ll live “probably well into my 50s, if not retirement.”
“Being a mum was all I ever wanted since I was a kid, but we all knew it was a proper dream, one that could never really happen,” she says. “Now I’m moving in with my long-term boyfriend, and he’s having genetic tests to see if we can have children without passing my cystic fibrosis on. Today it’s a real prospect.” 
Cystic fibrosis is an inherited genetic disease that causes a build-up of mucus in the lungs and digestive system. It causes problems with breathing, clearing infections, digesting food and fertility (in men). 
It also has significantly shortened life expectancy in the past, and often leads people to develop Type 1 diabetes, as well as mental health conditions like depression and anxiety. 
Most people with cystic fibrosis are diagnosed before the age of two, through newborn screening with a heel prick test. It might also be diagnosed with a sweat test or a genetic test. People who carry the gene that causes cystic fibrosis can find this out through a blood or saliva test. 
Around 11,000 people in the UK have cystic fibrosis. One in 25 people carry a gene that could cause cystic fibrosis in their children. 
People with cystic fibrosis are now automatically entitled to Kaftrio on the NHS from the age of two, on a prescription given by their doctor.