Diagnosed with cystic fibrosis before she was 2, Ella Balasa has no memory of life without the disease. As Balasa, 27, has grown older, her life has come to include periodic hospital stays, daily breathing treatments and damaged lungs that have grown weaker by the year.
Her lung function had diminished to such a dangerously low level earlier this year that her hope for survival appeared to hinge on receiving a lung transplant. She left her home in Richmond to move to Durham, N.C., to be closer to Duke University Medical Center, where the transplant would be conducted.
Then, in July, she received word she soon would have access to a promising new treatment under review by the Food and Drug Administration. She decided to hold off on the transplant, wanting to give herself an opportunity to avoid the procedure; it’s potentially beneficial but also carries the great risk of rejection by her immune system.
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She began the new treatment, Trikafta, at the end of September. Within three weeks, her lung function improved noticeably, though it remains far below that of someone without cystic fibrosis. Still, for someone suffering from a disease with no cure and with limited treatment options, this was a moment of magic.
“It’s pretty phenomenal,” Balasa said.
Cystic fibrosis is a progressive genetic disease that results in the formation of thick mucus that builds up in the lungs (and other organs), causing persistent lung infections and, over time, limiting the ability to breathe. More than 30,000 people are living with cystic fibrosis in the United States and there are more than 70,000 worldwide, according to the Cystic Fibrosis Foundation.
Sixty years ago, children with cystic fibrosis rarely lived long enough to attend elementary school, according to the foundation, which was formed in the 1950s by a group of parents and became a primary source of funding for research.
Meantime, as a result of advancements in specialized care, the life expectancy of people with cystic fibrosis has risen dramatically: Those with the disease born between 2014 and 2018 are predicted to live 44 years, according to foundation data.
Though Trikafta likely will lift the life expectancy even more, it is not a cure, and it will not undo the lung damage already caused by the disease. It also does not eliminate the need for daily breathing treatments — Balasa performs such treatments four times a day, at 30 to 45 minutes per session.
Trikafta buys patients time as researchers continue to hunt for a cure, helps keep lungs healthier for longer and offers something that has never been in abundant supply for cystic fibrosis patients: optimism.
“Before this,” Balasa said, “there was no hope.”
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Researchers on the team that discovered the cystic fibrosis gene and its most common mutation, and made the announcement in 1989, always hoped the discovery would lead to effective treatments.
“But we knew that would be a long road,” Dr. Francis S. Collins wrote in an editorial published by The New England Journal of Medicine in late October, in reaction to results of a pair of clinical trials proving the effectiveness of Trikafta. “Now, 30 years later, that time has come.”
Collins is a geneticist who was a member of that research team. He later led the international effort to map the human genome and now is director of the National Institutes of Health. He said the latest breakthrough “should be a cause of major celebration,” though “the best day ever” will be the day when a cure is discovered.
Dr. Joel Schmidt, director of the pediatric program at the VCU Cystic Fibrosis Care Center, has been following the progress of cystic fibrosis research with more than a passing interest — as a physician in the Army, where he was chief of pediatric pulmonology at Walter Reed Army Medical Center and director of the Cystic Fibrosis Center at Bethesda Naval Medical Center; and since 2006 at Children’s Hospital of Richmond at VCU. Long before that, he was a friend of a classmate with the disease.
Schmidt first learned of cystic fibrosis as a student at Bishop O’Connell High School in Arlington County in the 1970s. His friend and her younger sister both had cystic fibrosis; he recalls the school bus often dropping them off at doctor’s appointments.
The sister died when Schmidt and his friend were seniors. His friend went on to nursing school, but died weeks before graduation. Four decades later, Schmidt’s voice catches as he talks about his friend.
He can’t say he was drawn to this specialty because of his friend and her sister, but he has thought of them often over the years, particularly with recent advancements in treatments that, in stair-step progression, have helped increasing numbers of cystic fibrosis patients, depending on the type of gene mutation that caused their condition.
After a fast-track review of Trikafta that the FDA has described as a breakthrough therapy, more than 90% of people with the disease now have an effective treatment.
“This changes everything,” said Schmidt, who recalled when Terri Quinan, executive director of the Cystic Fibrosis Foundation, Virginia Chapter, alerted him to the news about FDA approval of Trikafta for cystic fibrosis patients age 12 and over.
“I said, ‘My life just got a lot busier and a whole lot better at the same time.’”
Busier because he began scheduling testing and writing prescriptions for cystic fibrosis patients wanting the new drug and hearing from parents of children under the age of 12 wanting to know when kids will be able to get the treatment. More research is needed before dispensing the drug to younger patients, and there also is the matter of determining if ongoing, pre-Trikafta treatments are still necessary.
Children’s Hospital of Richmond at VCU follows about 70 pediatric patients and 100 adults, a far cry from decades ago, when there were few adult patients.
Better because he expects the trend to continue, where he attends more weddings than funerals of patients.
“I used to go to a funeral for a pediatric patient once or twice a year,” Schmidt said.
Those sad events are rarer now, replaced more frequently by happy occasions: such as a patient’s 40th birthday party.
“We had some beers together,” Schmidt said.
Considering all of the funerals he’s attended, Schmidt said, “It feels really good now. I’m getting to the age where I’m semiretired now, cutting back on hours, but I’m still doing some CF work. You need something that brings you to work every day. This is the thing that does that.”
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Lily Constine, 24, was diagnosed with cystic fibrosis at age 2. She grew up in Richmond, played sports, graduated from high school and then college and now works in Washington for the nonprofit Pro Bono Institute. She’s lived a remarkably normal life, considering the diagnosis, but she believes her prospects might have gotten a whole lot better with the arrival of Trikafta.
“I’m excited,” said Constine, who still returns to VCU for medical care and had been helped by drug advancements prior to Trikafta, which she had not yet started to take at the time we talked. “It sounds like it’s a huge stride to a cure, which would be great.”
Constine has always had milder cystic fibrosis symptoms, she said, and as a kid she didn’t constantly dwell on things such as life expectancy. But there were times — such as when another cystic fibrosis patient she knew of died from the disease — when she had to face her own mortality.
“I was probably 9 or 10, and that was really the first time I thought about life expectancy,” she said. “I just remember that hitting me really hard and being upset about that. That is really a terrible kind of feeling.”
Part of Constine’s daily treatment includes use of a nebulizer for administering medication in the form of a mist inhaled into the lungs, as well as an inflatable vest that vibrates to loosen and thin mucus in the lungs.
Balasa also uses a nebulizer and vest. She also exercises regularly to promote deep breathing and keep her lungs as clear as possible. Her lungs function at only about 29% normal capacity, although that’s up from about 25% before she began taking Trikafta. It might not seem like a big change, but she can feel the difference.
Because she has to spend so much time taking care of her health, she has decided to work part-time for now. A 2014 graduate of VCU with a degree in biology, she works in an environmental microbiology lab at VCU. She also writes for Cystic Fibrosis News Today and is director for the US Adult CF Association.
As an advocate for herself and other cystic fibrosis patients, she finds the milestone created by Trikafta “very promising.”
“I think the momentum is increasing,” she said. “I can just feel it ramping up. I think how fast this might be rolling from this point.
“I feel like there are really novel therapies just around the corner. I know it’s just a matter of time.”