A Childhood Disease Grows Up
By Mary Loftus
A dire warning was issued in an eighteenth-century German medical text: “Woe is the child kissed on the brow who tastes salty, for he is cursed and soon must die.”
“Even then, they knew about the dangers of this disease,” says pulmonologist Seth Walker, director of Emory’s Adult Cystic Fibrosis Program.
More than thirty thousand people in the US have cystic fibrosis (CF), a genetic disorder of epithelial cells, which form the linings of airways, ducts, and most organs. CF results in especially viscous mucous that makes it harder to breathe and digest food, causes frequent respiratory infections, and can damage the lungs, liver, and intestines.
The disease also produces more salt in sweat, and this sweat test is how many with the disorder are first diagnosed.
Reaching adulthood with CF is a fairly recent development.
In 1955, children with the disorder were not expected to live long enough to attend grade school. In the 1960s and 1970s, patients seldom lived beyond their teenage years. In the 1980s, the average life expectancy was eighteen.
With more research and knowledge about the disease and more aggressive treatments, however, physicians have been able to extend the lifespan of those with CF to the mid- to late thirties. The once-fatal pediatric disease has become a chronic condition, creating new medical demands.
“We started noticing that adults with CF were still being treated by pediatricians, and adult clinics were established,” says Walker.
Emory’s Adult CF Program first had an adult-trained director in 2008 with Emory pulmonologist Linda Wolfenden, who died of breast cancer in 2010 at age forty. The center brought together nutritionists, respiratory therapists, nurses, and pulmonologists to provide comprehensive care to patients.
Emory’s adult program now cares for the second-highest number of patients in the country—more than 230. It also is one of the top programs in terms of the number of CF patients enrolled in therapeutic trials.
As one of the few adult CF centers in the Southeast, the Emory Clinic center sees patients from Georgia, Tennessee, Alabama, Mississippi, and South Carolina. Pediatric CF patients from the Children’s Healthcare of Atlanta (CHOA) system usually transfer to the adult center between high school and college.
Courtesy Nicholas Pettis
Twenty-four-year-old Nicholas Pettis, a native of Brooks, Georgia, who recently graduated from Auburn University with a degree in accounting, came to the center from Children’s at Egleston three years ago. Diagnosed when he was an infant, Pettis has had two hours of breathing treatments every day that he can remember.
He starts with a mixture of Albuterol and Atrovent in the nebulizer to open airways, followed by a hypertonic saline solution.
“The inhaled saline was discovered when surfers with CF started saying how much better they felt in the summers, when they were out in the waves,” says Walker. “It’s 7 percent saline because that’s the same as the ocean.”
Pettis also takes Pulmozyme, an enzyme that thins the mucous, as well as nebulized antibiotics, which are rotated to keep germs from becoming resistant. He wears an oscillation vest daily to dislodge the mucous from his lungs (“before the vest, my parents and grandparents used to have to pound me on the back”) and takes antirejection medicines for the liver and kidney transplants he’s had due to the disease.
Despite the time-intensive regimen, he played soccer on a traveling team in high school, as well as baseball and basketball, and still plays golf and works out at a gym. He and his family live on a twenty-acre farm with five dogs, five horses, and four goats. “Dr. Walker tells me to keep doing what I’m doing, to keep exercising, because I’ve done pretty well lately. I try to live fully. Someday I’d like to get married and have kids, but whether I have them or adopt is fine with me,” says Pettis, whose two younger sisters were adopted from China.
Since cystic fibrosis is inherited, spouses of CF patients sometimes get tested to see if they are carriers when deciding whether to have children (more than ten million Americans are unknowing, symptomless carriers). Babies must inherit a defective gene from each parent to develop CF.
The disease, while still causing a shortened lifespan, doesn’t appear to change patients’ goals. “Studies show that CF patients lead lives indistinguishable from anyone else’s,” Walker says. “Adolescents stay up late and go to parties, and as adults they graduate from college, work, get married.”
Courtesy Ashleigh Patterson
Thirty-year-old Ashleigh Patterson, an occupational therapist from Smyrna who was diagnosed with CF at birth, started coming to the clinic last year.
She and her husband, Tyler, stay active hiking around Stone Mountain, going to Atlanta Braves games, and traveling the US. Since she was put on the waiting list for a double lung transplant four months ago, though, her travels have been curtailed. “We can only go a few hours away from Emory,” she says. “I’m looking forward to being able to be more healthy and live longer, and having more time with my husband and family, but also, I know what it means to get the lungs, and that makes me sad.”
While waiting for a transplant, she has been taking intravenous antibiotics every day through a central PICC line in her chest. Her new lungs, says Patterson, will never get CF.
Walker says it’s an exciting time for researchers and patients, with drugs on the horizon that could modify the defective protein that causes CF.
Whatever the future holds, Patterson tries to stay positive. “Everyone has different challenges; CF was mine,” she says. “I like to think it makes me a better person. I want to show that you can still be happy and live a good life, even if it’s shorter than other people’s.
“My next big trip is going to be out of the country—I’ve got to get a passport.”