Waiting to be ushered into an outpatient examination room at Cincinnati Children's Hospital Medical Center, Alicia Lang doesn't chatter on like most 18-year-old girls. She speaks in bursts, interrupting herself every few seconds with a small hoarse cough and shallow gulp of air. As casually as such a subject can be raised, she mentions that she is considering a transplant to replace her broken lungs, which have lost nearly two-thirds of their capacity. "I used to think, 'why me?' " says the high school senior, whose direct gaze and impish humor belie her physical fragility, "but that was a long time ago. There's nothing I can do about it. It is how it is."
"How it is," for someone with cystic fibrosis, is that each breath is a small triumph. The genetic condition churns out gluey mucus that will clog and inexorably shut down the lungs if not jarred loose and hocked up at least twice a day. That entails half-hour sessions of gentle thumps (parents of CF babies call them "pitty pats") at more than a dozen prescribed locations on the back and chest, or wearing a vibrating vest powered by an air hose, or using a handheld "positive expiratory pressure" device. The sessions are punctuated with vigorous "huff coughs" to expel the sticky stuff. CF children learn the technique as toddlers.
There's more. The mucus blocks the ducts in the pancreas that release vital digestive enzymes generated by the organ. To prevent malnutrition, downing handfuls of enzyme capsules is mandatory before eating so much as a cracker or drinking a glass of milk. Many children still can't absorb the amount of nutrients they need, and must have a high-calorie supplement dripped into their stomach at night through a port in their belly or a tube down their nose. About half of those with the condition, including Lang, develop CF-related diabetes because of gummed-up ducts in the pancreas and have to take insulin injections. A who's who of deadly microorganisms love to multiply in the built-up mucus and cause lung infections. For patients who get repeat lung infections—like Lang, who spends a couple of weeks in the hospital for every six outside it—30-minute daily sessions at home, inhaling an antibiotic and tolerating the unpleasant aftertaste, are encouraged.
Even after 12 years of caring for CF children, Jamie Wooldridge, a pulmonologist in the Cystic Fibrosis Center at Cincinnati Children's, purses her lips and shakes her head in disbelief when she talks about the grueling regimen. "I can't think of another chronic illness that asks so much of families," she says. "Three to four hours. Every day."
The daily grind can never stop because it does not defeat the disease; it only blunts its force so that life can go on for CF children—or most of them. Every year scores die, falling short of adulthood however diligently their families work to keep them alive. And while several drugs now in clinical trials hold out the promise of a cure, their approval could be several years off.
Yet the larger picture also shows encouraging progress. The grip of the disease, which affects an estimated 30,000 U.S. children and adults, has loosened: In the early 1960s, children typically died before they were 10 years old. New drugs and improved care have pushed the median age above 37. The children are healthier, too. They play soccer. They join tumbling teams. They surf.
The pace of progress, moreover, is picking up. Over the past decade, CF specialists have increasingly embraced evidence-based medicine, "best practices," and other health reform tools. Several years ago, the Cystic Fibrosis Foundation, which for more than 50 years has funded basic research and development of drugs like those currently being tested, began bringing together teams from some of its 115 accredited centers, forming collaboratives to exchange information and encourage the spread of successful approaches. In 2006, the foundation took the almost unheard-of step of going public with outcomes data. Anyone can now look up average lung function and body mass index (BMI), the two key CF indicators, for every center's patients at the foundation's website.
When the numbers were released in 2006, the differences from center to center were immediately apparent. Cincinnati Children's, however, had known five years earlier that it had to improve. In 2001, the hospital persuaded the foundation to hand over performance data from a few top-performing centers, expecting that its own numbers would compare favorably. Instead, the figures described a troubling portrait of care that was mediocre or worse. Cincinnati Children's launched an unflinchingly critical self-examination. Top administrators and clinicians invited the parents of the hospital's CF children to a meeting. They displayed the stark data in PowerPoint slides, pledged to do much better, and asked the families to help. "We laid our dirty laundry on the table," says James Acton, director of the cystic fibrosis center at Cincinnati Children's.