Historically, children diagnosed with the genetic multi-system disorder cystic fibrosis rarely lived beyond their teens. But with the development of increasingly effective treatments, patients today not only are living longer, some of them are being identified with the disease when they are well into adulthood.
At Central Florida Pulmonary Group, the only accredited adult cystic fibrosis care center in the Greater Orlando region, a surprisingly large number of grown-ups – 147 in August – are being treated for the hereditary disease.
“This is more than the number of childhood cases that are being treated at either Arnold Palmer Medical Center or Nemours Children’s Hospital in Orlando,” reports Tamika Williams, the cystic fibrosis nurse coordinator at Central Florida Pulmonary Group. “The average life expectancy now is 39 years.”
One glowing example of patients at the Orlando-based medical practice who have triumphed over even that statistic is 74-year-old Nancy Stone of Kissimmee. She maintains an active, full life despite her daily regimen of various lung medications, oxygen, and bronchodilators for mechanically breaking up the mucous that thickens in lungs affected by cystic fibrosis. She flies to Wisconsin and Colorado without traveling companions to visit her daughters, and she recently enjoyed a vacation on a cruise ship.
“I feel fortunate to live close to Orlando and have these doctors who are willing to work with me,” says Stone, who was diagnosed with cystic fibrosis, along with her two brothers, when they all were in their 20s.
She participates in the ongoing clinical research trials conducted at Central Florida Pulmonary Group, whose 18 physicians specialize in chronic lung conditions and sleep disorders. The purpose of the trials is to test promising new drug therapies to further improve survival rates, relieve symptoms and promote normal living for patients.
“The most innovative thing right now,” said Daniel T. Layish, MD, a pulmonary specialist who is a principal clinical research investigator at the practice, “is a new medication called Kalydeco, which is the first drug to target a specific genetic defect that causes cystic fibrosis.
“It’s a pill that right now is the only specific therapy for cystic fibrosis approved by the Food and Drug Administration, and trial results so far have included improved lung function, weight gain and a slowing of the progression of the disease in patients who have taken it.
“The downside,” adds Layish, “is that it has only helped about three per cent of cystic fibrosis sufferers, because to qualify for this therapy a patient must have certain gene mutations. However, other studies are being done on potential new treatments for the other 97 per cent of patients.”
Clinical trials at Central Florida Pulmonary Group tend to be on a par with the level of trials conducted in sophisticated labs at university hospitals and research centers.
An editorial published in August in Annals of Internal Medicine stated that if improvements in care and survival of patients “continue at the rate observed between 2000 and 2010, the median projected survival of children born with the disease in 2010 exceeds 50 years.”
It cautioned, however, that successful new treatments also pose new challenges, and that “continuing to ensure the kind of care that has resulted in growing numbers of patients with CF living far into adulthood will not be simple or inexpensive…Caring for adults with CF requires a village.” People with the disease are at increased risk for diabetes, osteoporosis and liver failure.
The bottom line, though, is that for patients such as 74-year-old Stone, receiving cutting-edge medications and individualized care through participation in drug research trials is worth the risks or side effects.
“Patients such as Nancy Stone, who has done five or six trials I’ve conducted,” notes Bert Kesser, RRT, a clinical research coordinator at Central Florida Pulmonary Group, “have a passion for finding a cure for the disease. Many of the participants also realize the drugs being tested may not come to market for decades, and that they are often helping a next generation of patients.”
“You never know which one will be the drug that helps,” said Stone, who feels she has benefited, “and if I can help others by being in research trials, that’s good.”
At the same time, she stays engaged in the support network and empathy she has discovered on a cystic fibrosis Facebook page.
“It’s where young people diagnosed with the disease are sharing their experiences and suggestions and ideas,” she relates. “It’s really neat.”