‘Real hope’ for cystic fibrosis patients as NHS rolls out life-changing drug

Alix Oxlade was 30 weeks pregnant when scans showed fluid building up in the stomach and intestines of her unborn son, Rufus. The cause was unclear, although there was an early suspect: cystic fibrosis.

One of the most common hereditary diseases in the West, cystic fibrosis is caused by a faulty protein that causes mucus to build up in the lungs, gut and other organs and can lead to chronic infections that worsen over a lifetime. Tests subsequently revealed that Alix and her partner, Ben, who live in East Yorkshire, were both carriers of the disease.

“Rufus was born and needed major surgery straight away. It turned out he had cystic fibrosis,” Ben said last week. “We felt a small sense of relief that we knew what was wrong with him, but also a huge sense of fear when we read online about what the future held.”

Cystic fibrosis is a crippling condition associated with premature death, a lifetime of infections, hospitalisation and infertility. Ben and Alix feared the outlook for their son looked bleak – until a new range of drugs, known as modulators, has transformed the lives of many patients.

Administered as tablets, the modulators target the cause of cystic fibrosis by making the defective protein work effectively. The Cystic Fibrosis Trust played a major role in campaigning for the new drugs, particularly the modulator Kaftrio, developed by US pharmaceutical company Vertex, to be made available in the UK.

After initial hesitation, the National Institute for Health and Care Excellence, the medicines regulator, announced that the drugs would be available on the NHS to all cystic fibrosis patients over the age of two. “We are experiencing real hope for many people affected by cystic fibrosis,” said David Ramsden, chief executive of the Cystic Fibrosis Trust. “They can complete their education, think about long-term employment and start planning a family for the first time. It’s a clear sign of how much has changed in such a short time.”

Patients who were once bedridden have taken up sports; students who were once housebound have earned degrees and accepted jobs; and couples who expected to remain childless have begun planning families. In the same way, people who were preparing for death are now preparing to enjoy life—and Rufus’s story is a perfect example.

“Before the new medication, we couldn’t treat him like a normal child and let him play in places where he could get an infection that would cause him real problems,” Ben said. “That’s changed. He can have a normal childhood now. He was sick a lot and he wasn’t thriving. Now he’s a happy, thriving, affectionate little boy. That’s great.”

There are just over 11,000 people in the UK with cystic fibrosis, passed on to them by two asymptomatic carrier parents. It often comes out of the blue – much to the dismay of families. In the 1970s, affected children rarely lived past the age of 10. Improved treatments increased life expectancy to around 35 by the turn of the century, but the disease has remained a major cause of premature death – until now.

Researchers even believe that people with this condition can live up to 80 years.

“It’s brought about some remarkable changes,” said Kevin Southern, a professor of child health at the University of Liverpool. “The modulator drugs have been hugely helpful for many people with cystic fibrosis, but some have found it psychologically challenging, particularly realigning their life goals – to start thinking about living longer, starting a family, working full-time for longer, contributing to society in a different way and thinking about retirement. That can be psychologically overwhelming.”

Also, the modulators are not effective for all cystic fibrosis patients, doctors warn. About 5% have disease variants that are not affected by Kaftrio or other modulators. “Finding treatments for this small group is now an urgent priority,” Ramsden added.

One of the first patients to receive the new drug was former cricketer Stuart Priscott from Bristol. “I was in an early trial and responded straight away. I got better and better, but my sister, who also had cystic fibrosis but wasn’t in the trial, eventually died. The drug wasn’t released in time to save her.”

Priscott now runs the cricket charity Chance to Shine and took up cycling after his health recovered, cycling from Land’s End to John o’Groats to celebrate his 50th birthday. “I’ve been lucky,” he said.

Exeter University student Emily Pink feels the same way. “I spent a lot of my adolescence in hospital on intravenous antibiotics to treat my lung and pancreatic diseases. Some people die very young from cystic fibrosis and it looked like I was going to be one of them. I kind of made peace with it. Then Kaftrio came along. Since then my health has improved, I’ve graduated and I’m now doing a masters. My life has changed.”