Many With Cystic Fibrosis Living Longer

June 24, 2010 — -- When he was just a few days old, Kevin Przybyl of Orlando, Fla., was diagnosed with cystic fibrosis (CF), a fatal genetic disease that mainly affects the lungs. His doctor told his parents he was not likely to live to age 13.

That was 30 years ago.

"[In elementary school], my teachers asked me what I wanted to be when I grow up," said Przybyl. "I said firefighter, and they said 'No.'"

Since then, Przybyl has graduated high school, become a certified paramedic, worked as a fire dispatcher, married, adopted a child, started his own bass fishing guide business, and founded his own nonprofit organization.

Like Przybyl, many people with CF who were told that they would likely die before their adolescent years are now living considerably longer. Just a decade ago, 35 percent, or about 4,000 people living with CF reached age 18. Today, that number is 47 percent or about 12,500 CF patients, according to the Cystic Fibrosis Foundation.

Many experts attribute the longer life expectancy to earlier diagnosis and improved treatments. In recent years, every state has begun screening newborns for cystic fibrosis, so that parents are able to look ahead at treatment options that could potentially put off their child's first infection.

About 30,000 Americans, and 70,000 people worldwide, are living with cystic fibrosis, according to the Cystic Fibrosis Foundation. The inherited disease is caused by a flawed gene. While most patients are diagnosed at birth, some are not diagnosed until they are adults.

Cystic fibrosis occurs when the CFTR protein, which regulates mucus in the lungs, is genetically damaged. The damaged protein makes mucus thicker than it ought to be, and makes the lungs more susceptible to life-threatening bacterial infections.

According to Dr. Carol Conrad, lung transplant director at Lucile Packard Children's Hospital in Palo Alto, California, developments in airway clearance techniques, such as inhaled airway openers, have markedly improved in the last decade. Also, a focus on nutrition such as vitamin replacement therapies to curb vitamin deficiencies, and new forms of oral and inhaled antibiotics to clear out infections, have all contributed to prolonged life.

Potential New Cystic Fibrosis Therapy Targets Damaged Protein

Many available therapies for CF target symptoms of the disease, such as chronic and bacterial lung infections. Researchers are now developing therapies aimed at correcting the damaged CFTR protein.

"If we can get therapies that treat the function and basic defect of the disease, that's a game changer," said Dr. Bruce Marshall, vice president of clinical affairs at the Cystic Fibrosis Foundation. "We'd see people are dying with CF rather than from CF."

Many researchers see promise in a drug called VX770, now in the final phases of research before approval. The drug, developed by Vertex Pharmaceuticals, has been shown in previous tests to correct certain defects of the CFTR protein in a small subset of CF patients.

"The challenge for us has been to keep up with the successes of this disease," said Marshall.

Longer Living, Better Living?

There is still no actual cure for CF. And with more lifelong treatments available that are now given more frequently, many may wonder whether living longer means living a better quality of life.

Przybyl said he takes 15 different medications a day, along with several kinds of breathing treatments.

"The treatment burden is still really high, and patients and families struggle with it," said Dr. Bruce Marshall, vice president of clinical affairs at the Cystic Fibrosis Foundation. "But it's a tradeoff for better lung function, better nutrition, and a healthier life."

In fact, many CF patients remain on the wait list for lung transplants. From July 2008 to June 2009, 16 percent of those on the waiting list died before finding a match, according to the Scientific Registry of Transplant Recipents. And even with a successful transplant, many patients can only expect to live about five more years.

"Transplant is not an easy out. It's not a perfect solution," said Marshall. "You trade one set of problems with another set of problems."

For Cystic Fibrosis Patients, a Mid-Life Crisis at Age 30

Although Przybyl's lung function is just 35 percent, he said he is not yet eligible for a transplant.

Still, according to Dr. Scott Palmer, scientific director of the transplant center at Duke University Medical Center, the knowledge that they may be able to live longer has improved many patients' outlook on life.

"Many of the years of their life are good quality," said Palmer. "I'd like to think that we're giving them more years, and more quality of years."

While Pryzbyl still feels the limits of the disease on his body, he said he now thinks about the future, something he did not often do in his teens.

"Every morning I wake up and think, 'Here's another day,'" said Przybyl. "Hitting 30 was like, talk about having a midlife crisis, Holy Moly!"

Przybyl said his goal is to help raise his 11-month-old son and stick around long enough to fish together with him and his own father.

"I don't feel like I'm accomplished yet," said Przybyl. "There's more I need to be doing, that I feel I've been sent here to do."