Many With Cystic Fibrosis Living Longer

PHOTO At a few days old, Kevin Przybyl of Orlando Fla. was diagnosed with cystic fibrosis (CF), a fatal genetic disease that affects the lungs and pancreas. His doctor told his parents he would likely not live to see his teens. 
That was 30 years ago.

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

"At some point all patients get colonized with some type of bacteria in their lungs," said Conrad. "But when we get rid of it early, then lung function stays better longer."

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.

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