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

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

One of the most common inherited illnesses in the west, cystic fibrosis is caused by a defective protein that allows mucus to build up in the lungs, bowels and other organs and can lead to chronic infections that worsen through life. Tests subsequently showed Alix and her partner, Ben, who live in East Yorkshire, were both carriers of the disease.

“Rufus was born and immediately required a major operation. It was confirmed that he had cystic fibrosis,” said Ben last week. “We experienced a little relief that at least we knew what was wrong with him, but also a great deal of dread when we read online what the future might bring.”

Related: ‘Shocking’: cystic fibrosis patients should not have to pay for drugs that keep them alive, says MP

Cystic fibrosis has a debilitating impact and has been associated with early death, a lifetime of infections, hospitalisation and infertility. Ben and Alix feared their son’s prospects looked grim – until the appearance of a new set of drugs, known as modulators, that has transformed the lives of a vast number of patients.

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

After initial hesitation, it was announced by the National Institute for Health and Care Excellence, the medicines watchdog, that the drugs would be available on the NHS for 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 will be able to complete their education, think about long-term employment, and plan families for the first time. It is a profound signal of how much things have changed in such a short time.”

Patients once bedridden have taken up athletics; students once confined to their homes have taken degrees and accepted jobs; and couples who anticipated being childless have started to plan families. Similarly, people who were readying themselves for death are now preparing to enjoy life – and Rufus’s story provides a perfect example.

“Before the new drugs, we couldn’t treat him like a normal child and allow him to play in places where he might pick up an infection that might cause him real problems,” said Ben. “That has changed. He can have a normal childhood now. He was frequently ill and was failing to thrive. Today, he is a happy, thriving, affectionate little boy. It’s wonderful.”

There are just over 11,000 people in the UK with cystic fibrosis, which is passed on to them by two symptomless carrier parents. Often, it arrives out of the blue – to families’ utter consternation. In the 1970s, affected children rarely lived beyond 10. Improved treatments raised life expectancies to about 35 by the turn of the century, but the disease remained a significant cause of early death – until now.

Indeed, researchers believe it is possible that those with the condition could now live until their 80s.

“It has brought some striking changes,” said Kevin Southern, professor of child health at Liverpool University. “The modulator drugs have been hugely beneficial to many people with cystic fibrosis, but some have found it a psychological challenge, especially realigning their lifetime goals – to start thinking about living longer, having a family, having longer full-time employment, contributing to society in a different way, and thinking about a pension. That can be psychologically overwhelming.”

Nor are the modulators effective for all cystic fibrosis patients, doctors have warned. About 5% possess disease variants that are not affected by Kaftrio or other modulators. “Finding treatments for this small group is now an urgent priority,” added Ramsden.

One of the earliest patients to be given the new drug was former cricketer Stuart Priscott from Bristol. “I took part in an early trial and responded straight away. I got better and better, but my sister, who also had cystic fibrosis but who was not on the trial, eventually died. The drug was not released in time to save her.”

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

Exeter University student Emily Pink feels the same. “I spent much of my adolescence in hospital on intravenous antibiotic drips to treat my lung and pancreas illnesses. Some people die at a very young age from cystic fibrosis and it looked like I was going to be one of those. I sort of made peace with that. Then Kaftrio came along. Since then, my health has been restored, I have graduated and I’m now doing a master’s degree. My life has been transformed.”