Cystic fibrosis breakthrough has given patients a chance to live longer

From the article (archive):

[I]n the fall of 2019, a new triple combination of drugs began making its way into the hands of people with the genetic disease. Trikafta corrects the misshapen protein that causes cystic fibrosis; this molecular tweak thins mucus in the lungs so it can be coughed up easily. In a matter of hours, patients who took it began to cough—and cough and cough and cough in what they later started calling the Purge. They hacked up at work, at home, in their car, in bed at night. It’s not that they were sick; if anything, it was the opposite: They were becoming well. In the days that followed, their lungs were cleansed of a tarlike mucus, and the small tasks of daily life that had been so difficult became unthinkingly easy. They ran up the stairs. They ran after their kids. They ran 10Ks. They ran marathons.

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 5. In the ’70s, age 10. In the early 2000s, age 35. With Trikafta came a quantum leap. Today, those who begin taking the drug in early adolescence, a recent study projected, can expect to survive to age 82.5—an essentially normal life span.

CF was one of the first diseases to be traced to a specific gene, and Trikafta is one of the first drugs designed for a specific, inherited mutation. It is not a cure, and it doesn’t work for all patients. But a substantial majority of the 40,000 Americans with CF have now lived through a miracle—a thrilling but disorienting miracle. Where they once prepared for death, they now have to prepare for life. “It’s like the opposite of a terminal diagnosis,” Jenny Livingston told me.

The discussion on Hacker News is pretty good (this time).