Clinical trial helps woman with cystic fibrosis transform her life

Margaret lives in New York City, works full-time in finance and recently ran a marathon. She’s 28, but until just a few years ago, she wasn’t sure any of this would ever be possible.

“I was born with cystic fibrosis (CF), so my parents had to take a crash course for a genetic disease they knew nothing about,” says Margaret. “For most of my life, managing my health was its own full-time job.”

Growing up with cystic fibrosis

Over the years, this progressive disease clogged Margaret’s airways with mucus and harmful bacteria. This led to chronic infections, inflammation and lung damage that made breathing difficult. Doctor visits, medications, nebulizers and long hospital stays were all part of keeping Margaret going.

“My doctors and my family encouraged me to play sports and stay active, so I tried to live as normally as possible,” says Margaret. “Doctors kept repeating the same message. Stay healthy and stay active. Medical advances are coming.”

But by the time Margaret reached college, no breakthroughs had come her way, and the disease had severely ravaged her lungs. Dorm life had exposed her to new germs, and her demanding class schedule made it hard to keep up with treatments.

A clinical trial brings new hope

That’s when a lifesaving opportunity finally showed up. It was a clinical trial at Atlantic Health Morristown Medical Center for people with cystic fibrosis — and it was the catalyst that changed Margaret’s life.

“When we met Margaret, she had significant decline in lung function and was a clear candidate for our VX-121 combination therapy study,” says pulmonologist Stan Fiel, MD, chief medical officer at Atlantic Health Morristown and principal investigator of the clinical trial.

“Our research evaluates the long-term safety and effectiveness of a new oral medication that targets an underlying protein defect that causes cystic fibrosis. For Margaret, and for so many, the medication quickly and effectively improved lung function and respiratory symptoms.”

The power of experimental treatment

Margaret vividly recalls her first visit with Dr. Fiel. “I trusted him right away,” she says. “I liked his sense of humor, warmth and reassuring manner. His office felt like a family environment, and I knew I was in the right place.”

However, during phase one of the trials, nothing felt different. Margaret didn’t know if she was receiving the placebo or the active treatment and was beginning to wonder if the trials would work for her at all.

Then, when phase two began, changes were noticeable almost immediately.

“Within 72 hours of starting phase two, I started easily coughing up mucus, more mucus than I have ever coughed up, and in an effortless way,” she says, knowing this time she was receiving the active medication. “Every time I coughed, I cleared more from my lungs and was able to take deeper breaths. I also started gaining weight, which has always been difficult because my body has trouble absorbing nutrients.”

Getting back to living

The therapy was working. And with the help of her medical team, Margaret’s health continued to improve. Now, eight years after entering the clinical trial, she has her health back — along with a new perspective on life.

“I’m doing things I never thought possible,” she says, recalling the years of doctors telling her to hang on because new innovations were coming. “Science is amazing, and I am helping researchers usher in new and better treatments. It’s one of the most meaningful parts of this whole experience.”

A final message

Margaret sees firsthand how medical research improves lives — and she has a message of hope for anyone living with cystic fibrosis.

“I encourage people to do the same thing my doctors encouraged me to do years ago. Stay healthy and preserve as much lung function as you can. Treatments that weren't available a decade ago will be available in your lifetime. Just hold on, it’s coming.”