Written by Madoline Markham
Photography by Beau Gustafson
Kathryn Oliver had just finished two years of cystic fibrosis research when she got the phone call. The tests indicated that her newborn daughter Sophia had cystic fibrosis (CF), they said. She knew what CF was, of course, but she also had no family history of the genetic disease. “I was pretty blown away that it was even an option,” she recalls.
Today, Sophia, now 5, has digestive issues but, fortunately, does not have mucus in her lungs like many CF patients. But still, her parents have to keep her away from smoke, fumes, and pet dander as she is predisposed to develop reactions to it, and she takes digestive medications for fiber, multivitamins and probiotics—all in gummy form for now.
Like other parents of kids with CF, their biggest concerns can come from her now being in kindergarten. Kids with CF have to stay away from each other because they can cross contaminate, and they often have to stay home if a cold of flu is going around because their body is fight mode 24/7.
As a Ph.D. candidate at UAB, Oliver sees CF from another side too, one set in a laboratory that sees a cure possibly in sight. Through UAB’s Gregory Fleming James Cystic Fibrosis Research Center, Dr. John Hartman discovered a protein in yeast that functions the same way as a human gene mutation that causes the most common form of CF. By working to treat that yeast form, his lab is getting steps closer to treating the gene mutation, known as CFTR-∆F508, in humans like Sophia.
We typically produce about 2 quarts of mucus in our lungs each day that help trap bacteria and other harmful things, and hair-like projections allow mucus to move out of the lungs through the respiratory tract like a conveyor belt system. But in CF patients, the belt isn’t hydrated and the mucus doesn’t move out as it should. As a result, the lungs can get infected, which causes long-term respiratory problems.
But this UAB research has found a way to restore this function of the “conveyor belt.” With a combination of two drugs, about 50 percent of the normal mucus movement was restored, a level that could be enough to produce healthy lung function in humans.“If we can get connection up to 50 percent, we can likely help patients,” Oliver says.
Now that Hartman’s work has been published, Oliver is working to test the treatment in mice. If that is successful, they would work to find a safe way to deliver it to humans and then start a clinical trial that could change the day-to-day for those with CF.
CF patients have to undergo a therapeutic regiment daily. They wear a vest that attaches to a breathing treatment to break up the mucus in their lung in addition to taking pills for the same purpose. Their pill regiment, Oliver says, might look like that of their 90-year-old grandmother. They also use an inhaler-like nebulizer to take in antibiotics to help kill bacteria two to three times a day, and every time they eat they have to take enzyme supplements because they can’t absorb nutrients on their own.
While the advances in CF have been monumental, most are still directed at the symptoms. But Oliver’s work is targeting the cellular defect that causes these. If the treatment they are testing on mice makes it to humans, it would decrease the number of pills the patients take, but not necessarily stop breathing treatments and intake of enzymes. With less time required for treatment, they would have time freed up, increasing their quality of life. Oliver believes that like Kalydeco, a similar drug for CF patients with a different, less common mutation of the disease, the longer people are on it, the more “normal” their life would become. The treatment they are researching, by contrast, could treat around 90 percent of the CF population.
UAB research builds on the fast-paced development of treatment for CF seen in the past 30 years. In the 1980s, the average life expectancy for children with CF was around 10; today it’s around 40. UAB now has a CF clinic for adults in addition to one at Children’s of Alabama as the adult population living with the disease has grown. Adult CF patients are marathon runners, bikers, and American Idol contestants, but they still have to set aside around 2 hours every morning and evening for treatment and the risk doesn’t end. If they have too much mucus in their lungs and don’t get a double lung transplant in time, they won’t live.
Oliver thinks treatment could soon be directed at children younger than 2 and even in utero. Since CFTR was discovered in 1989, technology is moving faster and faster, as is research. Now it can take as little as two weeks to receive results that used to take two to three months.
“I really think we are going to see a cure for it,” Oliver says with confidence. It could be in the next 15-20 years, she says, but it’s “definitely in my lifetime”—a prediction she holds not just as a researcher but also asa mother.