Alix Oxlade was 30 weeks into her pregnancy when scans showed fluid building up in the stomach and intestines of her unborn son, Rufus. The cause was unclear, though there was an early suspect: cystic fibrosis.
One of the most common inherited diseases in the west, cystic fibrosis is caused by a defective protein that causes mucus to build up in the lungs, intestines and other organs and can lead to chronic infections that worsen throughout life. Tests subsequently showed Alix and her partner, Ben, who lives in East Yorkshire, are both carriers of the disease.
“Rufus was born and immediately needed a major operation. He was confirmed to have cystic fibrosis,” Ben said last week. “We felt a little relief that at least we knew what was wrong with him, but also a great deal of fear when we read online what the future might bring.”
Cystic fibrosis has a debilitating impact and is associated with early death, a lifetime of infections, hospitalization and infertility. Ben and Alix feared their son’s outlook looked grim – until the advent of a new set of drugs, known as modulators, which changed the lives of a large number of patients.
Administered as tablets, the modulators tackle the root of cystic fibrosis by making the defective protein work efficiently. The Cystic Fibrosis Trust played a key role in campaigning for the new drugs, in especially the modulator Kaftriodeveloped by the US pharmaceutical company Vertex, to be made available in the UK.
After initial hesitationIt was announced by the National Institute for Health and Care Excellence, the medicines watchdog, that the drugs will 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 work and plan families for the first time. It is a profound sign of how much things have changed in such a short time.”
Patients who were bedridden at first took up athletics; students who at first were confined to their homes, took degrees and accepted jobs; and couples who expected to be childless began planning families. Similarly, people who have prepared themselves for death are now preparing to enjoy life – and Rufus’ 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 could get an infection that could cause him real problems,” said Ben. “It has changed. He can now have a normal childhood. He was often sick and could not thrive. Today he is a happy, thriving, loving boy. It’s wonderful.”
There are just over 11,000 people in the UK with cystic fibrosis, which is passed down to them from two asymptomatic carrier parents. Often it comes out of the blue – to families’ utter consternation. In the 1970s, affected children rarely lived beyond 10. Improved treatments increased 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 may now live into their 80s.
“It has brought about some striking changes,” said Kevin Southern, professor of child health at Liverpool University. “The modulator drugs have been hugely beneficial for many people with cystic fibrosis, but some have found them a psychological challenge, especially in revising their life goals – to start thinking about living longer, having a family, working full-time longer have, to contribute to society in another way, and think about a pension. It can be psychologically overwhelming.”
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The modulators are also not effective for all patients with cystic fibrosis, doctors warned. 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,” added Ramsden.
One of the earliest patients to be given the new drug was former cricketer Stuart Priscott from Bristol. “I participated in an early hearing and responded immediately. I got better and better, but my sister, who also had cystic fibrosis but 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 recovered, riding from Land’s End to John o’Groats to celebrate his 50th birthday. “I was happy,” he said.
Exeter University student Emily Pink feels the same way. “I spent a large part of my adolescence in hospital on intravenous antibiotic drips to treat my lung and pancreatic diseases. Some people die from cystic fibrosis at a very young age and it looked like I was going to be one of those. I kind of made peace with it. Then Kaftrio came along. Since then my health has recovered, I have graduated and I am now doing a master’s degree. My life has been changed.”
