Claire Alexander is part of a new generation of young people growing up with a different sense of what it means to have cystic fibrosis. Parents of children with the incurable hereditary disease used to face the heartbreaking reality that their kids wouldn’t live past their teens. But with new treatments, the prognosis has changed dramatically, and with it there is an entirely new outlook on what it means to live with cystic fibrosis.
Blake and Lou Ann knew something was wrong when their daughter, Claire, got extremely ill at 6 months old and had to be hospitalized for a week with pneumonia. “I thought she was going to die, and it was terrifying,” says Lou Ann. Claire continued to get sick on and off, and a blood test finally revealed cystic fibrosis as the root cause of her problems when she was 18 months old. Lou Ann got a referral to Stanford Medicine Children’s Health and did some research. “I looked up cystic fibrosis and read that it was a ‘progressive, fatal genetic disease,’” she says. “It was beyond devastating.”
There was a glimmer of hope when Richard Moss, MD, a former pediatric pulmonologist at Stanford who retired in 2018, got the referral and saw the genetic type of cystic fibrosis that Claire had. As a leader in the field of cystic fibrosis, Dr. Moss and his colleagues at Stanford were the first to discover that gene therapy could help cystic fibrosis patients’ lung function in 2002, and their work ushered in promising lifesaving treatments for the disease.
The blow of their daughter’s diagnosis was hard for Blake and Lou Ann. But they clearly remember the moment when the dark cloud above Claire’s future started to lift. “Dr. Moss said to us, ‘Right now you need to do everything possible to keep Claire’s lungs as healthy as you can, because there will be medicines that could work for her in the future,’” remembers Lou Ann. It was essentially a plan to buy time and keep Claire’s lung function up so that she’d be able to benefit from new drugs down the road. “That was enough to keep us going,” she says.
Claire’s medical team, now led by Michael Tracy, MD, a pediatric pulmonologist at Stanford Medicine Children’s Health, has continued to encourage Claire to stay positive and healthy until a new drug is available through clinical trials or gains FDA approval. But the wait for a drug that would help Claire, given her specific genetic mutations, has been longer than expected.
As the years have passed, Claire has stayed the course and has been committed to staying healthy. Like all people with CF, she constantly battles the thick mucus that regularly builds up in her lungs and digestive tract. She struggles with a heavy cough and getting proper nourishment. But on the whole, she’s had few hospitalizations or serious complications.
This success is partly due to how strictly she adheres to her home therapy regimen. Claire uses an inhaler and nebulizer, takes more than 30 pills a day, and twice a day puts on an oscillation vest that helps shake the mucus out of her lungs. Claire’s attitude also plays a huge role in her success.
With her medical team’s encouragement, Claire has worked hard to keep her body strong. “We’ve tried to balance the significant amount of care that’s required to keep her lung function steady with everything she wants to do,” Dr. Tracy says. “We don’t believe in putting kids in bubbles. Our approach is particularly good at optimizing care while not letting it hold kids back from doing other things.”
Claire has never seen herself as someone who is sick. She started swimming, playing soccer, and practicing ballet before the age of 6. Now 16, she is more active than most teenagers. “I started seeing my friends doing these activities,” says Claire. “I never thought that I couldn’t do the same things. I guess I just didn’t let it get to me.” More than anything, she loves to dance, and she practices for hours a day at the New Ballet School in San Jose. She spent last summer at the American Ballet Theatre’s highly selective summer intensive program in New York City.
Her parents encourage Claire’s zeal for life and help her put her energy to good use, whether it’s fundraising for the Cystic Fibrosis Foundation, joining the National Charity League, or taking piano lessons. “We always felt that we didn’t know what the future held for her, so we’d make the most of any time we have,” Lou Ann says.
At last, in October 2019, the FDA approved a new combination therapy drug called Trikafta that was a match for Claire’s cystic fibrosis subtype—and that can benefit the majority of people with the disease. Now, at Stanford Medicine Children’s Health, medications targeting genetic dysfunction are available for about 90 percent of patients. While the drug is not a cure, its ability to improve lung function is bringing a lot of hope for its potential to correct some of the disease’s underlying problems.
Claire started taking Trikafta in November. “My cough is pretty much completely gone,” she says. “In ballet, I used to cough all the time. But now, hardly ever.”
It’s too soon to tell whether the medication will reduce the need for time-intensive home treatments, and it’s not yet clear how it benefits other systems affected by the disease, such as the GI tract.
Still, it’s a major advance in cystic fibrosis care. “Life expectancy continues to improve,” says Dr. Tracy. “Of babies born with the disease in 2018, half are now predicted to live to age 47.” And that number doesn’t take into account potential new therapies and treatment advances, according to the Cystic Fibrosis Foundation.
The Alexanders are focused on the best-case scenario. “The hope is, with treatment, the disease won’t progress and she’ll have a normal life,” says Lou Ann. “It’s everything we’ve prayed for.”
