During the weekend, I learned a friend was hospitalized, in ICU and intubated. It was because of complications of Cystic Fibrosis. I didn’t know she had that. In fact, I realized I knew next to nothing about the disease itself.
Here’s my public service announcement:
What Is Cystic Fibrosis?
Cystic fibrosis is a progressive, genetic disease that affects the lungs, pancreas, and other organs.
There are close to 40,000 children and adults living with cystic fibrosis in the United States (and an estimated 105,000 people have been diagnosed with CF across 94 countries), and CF can affect people of every racial and ethnic group.
There are many misconceptions about CF. Learn the facts on our page, Dispelling Misconceptions About Cystic Fibrosis.
In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride — a component of salt — to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky.
In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation, respiratory failure, and other complications. For this reason, avoiding germs is a top concern for people with CF.
Today, because of improved medical treatments and care, more than half of people with CF are age 18 or older. Many people with CF can expect to live healthy, fulfilling lives into their 30s, 40s, and beyond.
Our friend is in her early 30s. I was shocked to learn from a doctor friend that people with Cystic Fibrosis often don’t make it to 40 years old.
Another thing I learned was almost as upsetting. There’s a new drug that is effective in treating Cystic Fibrosis, but costs $300,000 a year — without insurance. I’m not sure how much it is with insurance, but it has to be way too much.
Patient cost for Trikafta: more than $300,000 annually
Trikafta (elexacaftor/tezacaftor/ivacaftor) is a triple-combination therapy containing three CFTR modulators. These molecules can boost the functionality of the mutated CFTR protein in people with CF caused by specific mutations.
CFTR modulators are a relatively new class of medications for cystic fibrosis — the first such therapy was approved in the U.S. in 2012. While shown to be effective, these treatments come with a high price tag: The cost of Trikafta is more than $300,000 annually.
On the bright side, our friend is out of ICU, is going home and will live to see another day.
Do you know anyone with Cystic Fibrosis?
Were you aware that this disease is so severe?
