When tests at 30 weeks into her pregnancy revealed fluid accumulation in Rufus's stomach and intestines, Alix Oxlade was pregnant. Although there was an early suspect—cystic fibrosis—the aetiology was unknown.
Cystic fibrosis, one of the most prevalent hereditary diseases in the west, is brought on by a faulty protein that causes mucus to accumulate in the lungs, intestines, and other organs. This can result in chronic infections that get worse over time. Subsequent testing revealed that East Yorkshire residents Alix and her partner, Ben, were also carriers of the illness.
“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.”
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.
Emily Pink, a student at Exeter University, agrees. "I was hospitalised for a large portion of my childhood on intravenous antibiotic drips for lung and pancreas ailments. It appeared that I might be among those who pass away from cystic fibrosis at a very young age. I came to terms with that, sort of. And then there was Kaftrio. Since then, I've recovered my health, graduated, and am currently pursuing a master's degree. My life has changed for the better.
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