Gene-Based Treatments May Help Cystic Fibrosis Patients
After taking Kalydeco in its experimental phase, Crestwood’s Annie McMahon experienced an increase in body weight, height and functionality.
Annie McMahon of Crestwood has cystic
Gene-Based Treatments May Help Cystic Fibrosis Patients
After taking Kalydeco in its experimental phase, Crestwood’s Annie McMahon experienced an increase in body weight, height and functionality.
Annie McMahon of Crestwood has cystic fibrosis
Annie McMahon, a 16-year-old from Crestwood, likes to go to the mall. She occasionally shirks her chores and worries about what her classmates think of her. She’s a cheerleader and the fair-skinned eldest of four daughters. As with many teenagers, it’s not clear if she really understands her own vulnerabilities, even as her anxiety about the future seems like an unfair imposition on her youth.
It also seems unfair that she may not have quite as much time in front of her as other young people: Annie is one of 30,000 Americans who has cystic fibrosis (CF), an incurable genetic disease that once killed its victims before they were out of elementary school, although the expected lifespan for people with CF has more than tripled in the past few decades.
By September 2010, doctors were preparing to put Annie on the list for a lung transplant. (The disease primarily affects the airways and digestive tract.) Yet an experimental treatment not only halted her decline but brought unexpected hope to all those waiting desperately for the unfulfilled promises of gene-based medicine. “It’s surreal,” says Annie. “Sometimes, when it’s a really good day, it’ll feel like I don’t even have CF.” Part of that feeling comes from Annie taking a new medicine called Kalydeco. It was approved by the US Food and Drug Administration in January 2012, making it the first-ever treatment for the genetic causes of CF, rather than just the symptoms. And, despite the designs and dreams of doctors and patients alike, it is one of the first medicines of its kind for any disease.
In CF, a genetic mutation disrupts chloride-ion transport throughout the body, causing mucus to build up in the lungs, digestive tract, and other areas. This, in turn, causes severe respiratory problems and infections. By the time Annie was diagnosed in 1998, those with CF generally lived only into their early 20s. Today, the average life expectancy has shot up to 37. Annie’s uncommon variant affects only about 1,200 people—or 4 percent of those diagnosed—but hearing about her treatments still gives an idea of daily life for a child with cystic fibrosis.
“It’s two hours every day,” says Annie’s mother, Theresa, referring to Annie's barrage of treatments. Nebulizers and inhalers, more than 30 pills, portable oxygen tanks, and a regimen of chest vibrations to loosen the obstructing mucus are just the beginning of her daily routine. “Annie has to be in the hospital every three months for 10 days to two weeks to have IV antibiotics. It’s called a ‘tune-up.’ People with CF also don’t absorb fat, so they need extra calories, so she hooks herself up to an IV every night just to maintain her weight.”
She says that, before treatment, the family could tell Annie had woken up because they would hear “this choking cough. She sounded like an old man.” If, say, Annie were to forget her backpack when she came down for breakfast, it would simply be too taxing for her to retrieve it and one of her sisters would have to do it—just as her friends need to help out at The Ursuline School in New Rochelle, where she is now a sophomore.
CF has been a psychological challenge for Annie as well. At her first sleepover in pre-school, Annie was confused about why her friend didn’t have to receive a treatment before bed. She learned about her shorter life expectancy from a brochure at one of her parents’ charity events, and, as she became a self-conscious teenager, she became more aware that her cough disrupted class, prompting hostile stares. By the time she went on Kalydeco, her lung functioning was only 20 percent of a healthy child’s.
In October 2010, though, Annie began taking the medicine, which was then still in its experimental phase. Soon after beginning, she gained 12 pounds and grew three inches. Her lung functioning doubled, and she even surprised her family by appearing wide awake in the morning without having alerted them with her usual coughs. Today, Annie is on one of the cheerleading teams at Ursuline, and the girl who couldn't always lift her heavy backpack sometimes acts as a “base” in cheerleading formations. In February, she headed to Orlando for the National High School Cheerleading Championship.
“It’s been a miracle,” says Theresa. Still, there have been setbacks. This past summer, Annie was diagnosed with diabetes, which is common in people with CF, though she is being treated. She also still needs her full battery of treatments because of previous damage, but the hope is that eventually some people with this variant of CF can go symptom-free throughout a normal life. In addition, Kaly