‘If it bleeds, it leads,’ is the old media adage. Meaning that bad news flies around the world while good news is still languishing, forgotten, at the bottom of the editorial pile. The mainstream media have a vested interest, then, in keeping you terrified by scare stories and little interest in spreading good news.
For instance: did you know that just a few years ago, just as the media was about to scare the holy bejesus out of the world over Covid, scientists finally developed a near-complete treatment for cystic fibrosis?
Cystic fibrosis once all but guaranteed an early death. When the disease was first identified, in the 1930s, most babies born with CF died in infancy. The next decades were a grind of incremental medical progress: A child born with CF in the ’50s could expect to live until age five. In the ’70s, age 10. In the early 2000s, age 35.
In 2019, a new drug – in reality, a triple combination of drugs – began to be used to treat people with the genetic disease. Called Trikafta, it works by correcting the misshapen protein that causes the disease. Within hours, patients who’d spent their lives slowly suffocating on accumulating mucus in their lungs, began to experience what they now call ‘The Purge’: coughing, coughing and coughing – and clearing the tar-like gunk that was inexorably asphyxiating them.
Within days, they “ran up the stairs. They ran after their kids. They ran 10Ks. They ran marathons”.
Unfortunately, it’s not a cure and it doesn’t work for everyone. But the majority of CF sufferers can now expect to live a normal lifespan, depending on how early they’re treated. Taking the drug in early adolescence is projected to lead to a survival age of 82.5, essentially normal. Treatment in infancy allows a completely normal life and lifespan. Some pregnant women are using it to treat their unborn children who have cystic fibrosis.
CF is a brutal disease and affects far more than just the lungs. Thick mucus can block the ducts from the pancreas, leading to children who are insatiably hungry at the same time as they slowly starve to death. The same mucus, accumulating in the lungs, is a fertile breeding ground for bacteria, causing repeated infections and scarring and eventually causing them to fail altogether.
People with cystic fibrosis have had to practice social distancing since long before Covid, because they are considered a danger to one another. Their lungs harbor destructive and often antibiotic-resistant bacteria that can become impossible to uproot once established. Certain names are spoken with an air of doom: Burkholderia cepacia, Pseudomonas aeruginosa. When doctors in the 1990s realized that people with CF were infecting and killing one another by simply gathering, they stopped allowing patients to go within several feet of one another unmasked.
A cure for CF has been on the cards since 1989, when scientists first identified the genetic culprit, which encodes a protein called CFTR that controls the flow of salt and water. But it was also a lesson in the wide gulf between identifying the cause and finding a treatment. The breakthrough came when efforts changed tack from correcting the gene, to correcting the mutated protein it produces.
This had never been done before – with any disease – but the nonprofit Cystic Fibrosis Foundation deemed the strategy promising enough to strike an unusual venture-philanthropy agreement with a company that would attempt it, which was eventually bought by Vertex Pharmaceuticals. The foundation funded the research in return for a share of the revenue.
The first payoff from the research was a drug called Kalydeco in 2012. It worked well – but only for a tiny four per cent of CF sufferers.
Still, it provided a jolt of optimism. Kalydeco was the first drug ever tailored to a person’s inherited genetic mutation, and the breakthrough portended a new age of “personalized medicine.” It also inspired other patient-advocacy groups to copy the venture-philanthropy model. In 2014, the Cystic Fibrosis Foundation sold the rights to royalties from Kalydeco and future Vertex CF drugs for $3.3 billion, which it could invest in new research.
In fact, there are some 1,700 mutations that are found in people with CF. But 90 per cent of sufferers carry at least one particular mutation.
A few years later, word began spreading of a forthcoming three-drug combination from Vertex. In clinical trials, neither patients nor doctors are told who is on the placebo and who is on the experimental drug. But in this trial, everyone could tell. The triple combo made patients’ lung function jump by a shocking 10 percentage points. Overnight, they woke up smelling for the first time the distinctive scent of their home. They could even taste their sweat becoming less salty. This was Trikafta.
Trikafta was approved by the FDA in 2019.
One odd side effect of the drug is a mini-baby boom.
Trikafta had effects that even doctors did not anticipate. In the months after the drugs became widely available, some patients unexpectedly got pregnant; the drug that thins lung mucus, it turns out, also thins cervical mucus. Then, patients started trying to get pregnant. The drug made many people with CF feel so healthy that they no longer worried about the physical toll of pregnancy and parenthood or the agony of leaving behind young children. Doctors began speaking of a Trikafta baby boom.
There are caveats, as always. It’s a lifelong medication, much like insulin. But that life is now an otherwise normal one. The Make-A-Wish foundation recently announced that children with CF are no longer automatically eligible for the programme – because they’ve essentially been cured.
Although Trikafta looks to be a very safe drug for most people, it does have side effects. It can cause cataracts as well as liver injury. More perplexing, Trikafta may affect the brain […] The link between Trikafta and these symptoms in the brain is still not fully proven or understood.
Frustratingly, too, for some 10 per cent of patients, the drug simply doesn’t work, because they don’t have the same mutation that the other 90 per cent do. The Cystic Fibrosis Foundation continues to fund research into a cure for all. At the forefront is American molecular biologist David Liu, whose research is pursuing the goal of ‘prime editing’ – re-writing a person’s DNA – to eliminate the mutation altogether. Liu’s lab makes much of its work freely available, via a non-profit library of DNA blueprints.
