Cystic Fibrosis (CF) is generally diagnosed in infants, as the result of newborn screening designed to give parents the maximum access to life-extending treatment before the first infection hits. This as-yet incurable disease attacks the lungs with a sticky mucous, clogging them and leading to life-threatening infections. The pancreas can also become clogged, preventing the body from properly digesting food. The median life expectancy of someone with CF is just over 37 years. However, more and more CF patients are surviving into adulthood, and some are not being diagnosed until later in their life.

Mild Cystic Fibrosis or Delayed Onset?

Until now it has been assumed that patients not diagnosed until later in life simply had a mild version of the disease. The AP reported last week on new research at one of the largest adult CF treatment centers in the US. Dr. Jerry Nick of National Jewish Health in Denver studied more than 3,000 long-term survivors over 15 years. He found that even those diagnosed as adults deteriorated quickly once the disease became highly active.

"It's not really mild CF, it's delayed CF," says Nick, whose study was published last month in the American Journal of Respiratory and Critical Care Medicine.

New Information Could Extend Lives

With this new information comes some confusion. Some screened babies may have a less common genetic mutation than the usual gene associated with childhood-onset CF. This less common mutation is the one Nick is finding in people who were not diagnosed with CF until adulthood. But just because a baby carries the mutation doesn’t mean he will develop CF.

"This says you shouldn't dismiss it" in the babies with those ambiguous test results, Nick cautions. "This is not the classic CF of 30 years ago."

CF affects approximately 30,000 Americans, and 70,000 people worldwide. It is caused by inheriting a flawed CF gene from each parent.

"We're struggling with this," says Dr. Bruce Marshall of the Cystic Fibrosis Foundation, which issued guidelines in December recommending such children be closely monitored for signs of disease as they grow. "At this point, we really don't know exactly what to do with these folks."

A few decades ago, children with CF were not expected to make it past elementary school. Now 47% reach 18, and 5% have lived beyond 40. Babies diagnosed today are expected to live into their 50s. The bottom line, according to Nick, is that the disease is more complicated than previously believed, and that proper care during adulthood fights lung damage, no matter when the disease is diagnosed.