On Cystic Fibrosis and Medical Miracles

I first became aware of cystic fibrosis as a pharmacy technician at a children’s hospital in the 1980s. One of my tech duties was to deliver medication cassettes (each patient had a drawer with their meds for half the day) to each of the units in the hospital. I would hear the CF patients cough, a deep, wet cough, and it would break my heart. I learned that CF is a genetic condition caused by a recessive gene, and that people with it have to get one gene from each parent to have the disease. CF is one of the most common genetic diseases, and many people can be carriers (with one gene) and never know it, since they would have no symptoms.

Below is a description of what cystic fibrosis is.

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. 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. (Source: CFF.org, the website of the Cystic Fibrosis Foundation)

When I was a pharmacy tech, not very much was known about exactly what the defects were, and the mechanism of how they worked was not fully understood. At that time, life expectancy for CF patients was no more than 20 or so years, and many kids died young from infections or other complications. More recently, the actual defective genes have been identified, and the mechanism (chloride transport) of the defects has been figured out. These medical breakthroughs have been transformative for CF kids and their families, with new treatments and medicines being found almost every year.

I really formed a connection when, one day at work, I was called over to the pharmacy outpatient window to find a young patient asking for me. It turned out that his mother and my sister had been sorority sisters at college, and she knew that I worked in the hospital. So I began an acquaintance with Troy Hadley, a very nice young man. He called in on me whenever he was in the hospital (CF kids are frequently ill and hospitals know them well). I followed his progress with interest; he graduated from college and went on to become a respiratory therapist. Unfortunately, Troy passed away at the age of 35, but he had a very successful life until then. That was when I decided that I had to support the Cystic Fibrosis Foundation.

Unlike a lot of “disease charities,” the CF Foundation directly funds research on CF, from medical researchers at universities and teaching hospitals to supporting drug companies working on the latest treatments. That meant a lot to me, that instead of begging the government for money, the CF Foundation directly funds the research that has led to so many miraculous breakthroughs. Proof of their effectiveness is that the lifespan now expected for CF patients has gotten so high that a CF kid born today can expect to live into their 50s, or even 60s! When I began my short pharmacy career, there were few treatments for CF aside from antibiotics, inhalers, and some GI drugs. Now, there are actual disease-modifier medicines, and genetic treatments are in the works. In the past, most CF kids saw pediatric pulmonologists, but now there’s a whole new extension of Adult CF clinics, since so many are now living so much longer.

Last week, I went to a meeting of the local CF Foundation chapter and listened to a very interesting talk by a physician from the University of Washington on what is happening in the CF world. He was so enthusiastic about the new research and treatments coming down the pike; the enthusiasm was infectious. At my table was seated a young woman with CF and her mother, and she told me how she has been faring. She looked pretty good to me!

I am proud to be a supporter of the Cystic Fibrosis Foundation, and I urge my readers to visit the website to learn more about it and become a supporter. Due to the Covid controversy, pharmaceutical companies don’t get much love these days, but the companies that work with the CF Foundation on research and drug discovery are truly contributing medical miracles, both improving and extending the lives of cystic fibrosis patients around the world.

[originally posted at RushBabe49.com]