The Changing Face of Cystic Fibrosis

Aug. 2, 2006 — -- It may seem like a primitive punishment, but for years pounding on a patient's back was one of the few effective treatments for cystic fibrosis.

Cystic fibrosis is a genetic disease where mucus clogs the lungs and pancreas, making breathing and digestion difficult.

The pounding helped loosen the mucus, but it didn't help most patients live past childhood.

In the last few decades, however, more extensive research has led to new treatments that have improved the length and quality of life for CF patients like Anne Governor.

The 25-year-old just had a baby and knows she is more fortunate than other CF victims.

"I've been very lucky," Governor said. "There're people my age that don't do as well."

A Teen Grows and Research Expands

CF affects 30,000 people in the United States.

Governor was diagnosed with CF as a baby in 1981, when patients were usually dying in their teens.

As a child, she took medication to help her digest food, and later inhaled antibiotics to protect her lungs from infection. She also made sure to stay active to help her lungs stay strong.

"I enjoyed running, and I played fullback when I played soccer," Governor said. "The tiniest person on the team was on defense, and it was a lot of fun."

As Governor grew, so did the average age of survival of CF patients. Today, patients on average live until age 38.

"Now, somewhat around 40 percent of the people with CF are over 18 years of age," said Dr. Rob Horowitz of the University of Rochester Medical Center.

"So yes, it's a childhood disease, but the majority of children with cystic fibrosis become adults with cystic fibrosis."

Behind the Changing Face of the Disease

What is changing the face of cystic fibrosis?

In part, research has found new ways to limit and treat the infections and lung damage caused by thick mucus.

"Daily care, maintenance care, focusing on excellent nutrition, focusing on removing that mucus from the lungs, inhaled antibiotics have clearly offered some benefit to a lot of folks," Horowitz said.

New research has also changed the way doctors approach treating CF patients.

"All of these things are [here] not necessarily to treat someone after they are acutely ill, but to help them remain healthy," said Ann McMullen, a certified pediatric nurse practitioner at the University of Rochester Medical Center. "It's no longer treat them when they're sick, sick, sick, but help them to stay well."

A Normal Life

Despite a few ups and downs, Governor has stayed well.

She married in 2003 at age 23, and then did something once thought impossible for CF patients: She got pregnant and had a healthy baby girl named Alexa.

"It is because of the new treatment, and data shows it doesn't affect the mother's life expectancy and the babies are just fine," said ABC medical news editor Dr. Tim Johnson.

CF is a recessive hereditary disease. Both parents must have the CF gene for a baby to be born with the disease, and simple tests can determine whether someone is carrying the gene.

Governor had to be very careful during her pregnancy.

"Our feeling is that the sicker people's lungs are, and the more difficulty they have nutritionally, the more difficulty they will have carrying a pregnancy and the more impact the pregnancy will have on their disease," McMullen said.

Governor has always been thin because of digestion problems caused by CF.

It's often difficult for women with her condition to gain enough weight for a healthy pregnancy.

"Most women who go for their checkups at their doctor when they're pregnant worry about the scale going up too high," Governor said. "Every time I would see a big weight gain, I was thrilled."

Soon after Alexa's birth, Governor had another surprise.

Her pulmonary function tests -- a gauge of lung health -- were the highest they had ever been.

Governor's mother, Kathy Keaton, is now thrilled to have a healthy daughter and granddaughter. She still worries about the future.

"Oh, am I proud of her, yes. She's done very well," Keaton said. "Anne has done remarkably well so far in her 26 years. But she knows she will inevitably get sicker sometime in the future."

Governor worries, too.

"At some point, I know it's gonna happen [getting sicker,]" she said. "I'm going to have to deal with it more than I have to now. And that's a struggle."

ABC News's Dr. Tim Johnson reported this story for "Good Morning America."