'Real hope' for cystic fibrosis patients: NHS launches life-changing drug | Cystic fibrosis

Alix Oxlade was 30 weeks pregnant when ultrasound scans showed that fluid had accumulated in the stomach and intestines of her unborn son Rufus. The cause was unclear, but there was an initial suspicion: cystic fibrosis.

Cystic fibrosis is one of the most common inherited diseases in the West. It is caused by a defective 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. Later tests showed that Alix and her partner Ben, who live in East Yorkshire, are both carriers of the disease.

“Rufus was born and had to undergo major surgery straight away. It was confirmed that he had cystic fibrosis,” Ben said last week. “We were a little relieved that we at least knew what was wrong with him, but we were also very scared when we read online what the future might hold.”

Cystic fibrosis has serious consequences and is associated with early death, lifelong infections, hospitalisation and infertility. Ben and Alix feared the outlook for their son looked bleak – until a new range of drugs called modulators came onto the market that have transformed the lives of a huge number of patients.

The modulators, administered in tablet form, attack the cause of cystic fibrosis by making the defective protein effective. The Cystic Fibrosis Trust played a key role in campaigning for the launch of the new drugs, particularly the modulator Kaftrio, developed by the US pharmaceutical company Vertex, in the UK.

After some initial hesitation, the National Institute for Health and Care Excellence announced that the drugs would be available on the NHS for all cystic fibrosis patients over the age of two. “We are seeing 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 for families for the first time. It's a clear sign of how much things have changed in such a short space of time.”

Patients who were once bedridden have started exercising; students who were once housebound have earned degrees and gotten jobs; and couples who expected not to have children have started planning families. Likewise, people who were preparing for death are now preparing to enjoy life – and Rufus' story is a perfect example of this.

“Before the new medication, we couldn't treat him like a normal child and let him play in places where he could catch an infection that could cause him real problems,” Ben said. “That has changed. He can now have a normal childhood. He was often sick and didn't thrive. Today he is a happy, thriving, loving little boy. It's wonderful.”

In the UK, just over 11,000 people suffer from cystic fibrosis. The disease is transmitted by two asymptomatic parents and often comes completely unexpectedly – to the great dismay of families. In the 1970s, affected children rarely lived beyond the age of 10. Improved treatment options increased life expectancy to around 35 years by the turn of the century, but the disease remained one of the most common causes of premature death – to this day.

Researchers actually believe that those affected today could potentially live to be over 80 years old.

“It has brought about some remarkable changes,” said Kevin Southern, professor of child health at the University of Liverpool. “The modulators have been enormously helpful for many people with cystic fibrosis, but some have found it psychologically challenging, particularly reorienting their life goals – thinking about living longer, having a family, working full-time for longer, contributing to society in other ways and thinking about retirement. It can be psychologically overwhelming.”

Doctors also warned that the modulators are not effective in all cystic fibrosis patients. About 5% have variants of the disease that are not affected by Kaftrio or other modulators. “Finding treatment options for this small group is now a top priority,” Ramsden added.

One of the first patients to receive the new drug was former Bristol cricketer Stuart Priscott. “I took part in an early trial and responded immediately. I got better and better, but my sister, who also had cystic fibrosis but was not part of 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 recovery, cycling from Land's End to John o'Groats to celebrate his 50th birthday. “I was lucky,” he said.

Emily Pink, a student at the University of Exeter, agrees. “I spent much of my youth in hospital, receiving intravenous antibiotics to treat my lung and pancreatic diseases. Some people die from cystic fibrosis at a young age and it looked like I was going to be one of them. I accepted it. Then came Kaftrio. Since then I've recovered, graduated and am now doing my Masters. My life has changed.”