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Dr. Carlos Milla examining Dylan Mertz.

Dylan Mertz and his doctor, Carlos Milla.

Growing hope

For four decades, U doctors have been extending life for those with cystic fibrosis

By Mary Hoff

Updated Aug. 18, 2006

Whoever said there was a finite amount of energy in the universe has not met Dylan Mertz. This 6-year-old just can't get enough of life. He plays soccer and baseball. He loves to learn just about anything, and then tell you all about it. As far as he's concerned, everyone in the world falls into one of two categories: friend or future friend.

But life was not always this way. When he was born, Dylan had distressingly poor muscle tone. After a couple of months he started to lose weight, even though he was getting plenty of food. When he was five months old his parents, Pam and Lou Mertz, brought him from their home in St. Michael, Minn., to the University of Minnesota to be tested for cystic fibrosis. They had read about the inherited disease on Internet pages filled with stories of disrupted lives and early deaths.

Dylan tested positive. "It was sheer terror," recalls Pam Mertz. "It was like falling off a cliff into an abyss of we didn't know what."

But Carlos Milla, who diagnosed Dylan, was reassuring. "Immediately he gave us hope," says Mertz.

Milla is the relatively new director of the U's Minnesota Cystic Fibrosis Center, which has been a national and international leader in cystic fibrosis clinical care for 40 years. During that time, the center--founded and directed until 1999 by internationally acclaimed cystic fibrosis expert Warren Warwick--has helped thousands of children with cystic fibrosis grow up to live rich and productive lives. Center staff began working with the Mertz family right away to develop and carry out a plan that would help Dylan not only survive, but thrive.

"We feel very blessed to be in Minnesota," Pam Mertz says. "We don't mind the cold, we don't mind the snow, because we've got a great team for Dylan at the U."

A genetic typo

Cystic fibrosis (CF) is a hereditary disease caused by a typographical error in a gene that regulates the production of proteins that affect the movement of salt and water in the lining of internal organs. About 1 in 30 of us carry such a "typo" on one of our two copies of chromosome 7, but we don't know it because the normal version on the other chromosome 7 covers for the faulty one. It's only when two such faulty chromosomes get together--one from each parent--that symptoms appear.

And they are devastating.

People with CF are prone to accumulate mucus in sinuses and organs, such as lungs, that can attain a texture somewhere between Silly Putty and peanut butter. The effect on their bodies is like what you'd get if you tried lubricating your car's engine with oatmeal instead of motor oil: Things clog up. Most notably, digestive enzymes get trapped in the pancreas rather than flowing into the stomach, making it hard for the body to extract nutrients from food. In addition, the deep recesses of the respiratory tract fill up with sticky goo, leading to inflammation, infection, and scarring. For much of history, children with CF, plagued with nutritional deficiencies and loss of lung function, rarely lived to school age. "Let them die--it's better for everybody," was the prevailing attitude, says Warwick.

A pioneer emerges

In the 1950s, a few renegade physicians began exploring ways to keep kids with CF alive. In 1955, parents and doctors joined together to form the Cystic Fibrosis Foundation as a nationwide resource to support families and individuals with CF, encourage research and disseminate knowledge about life-sustaining therapies.

By the numbers

* The gene involved in cystic fibrosis was identified in 1989.

* Cystic fibrosis occurs in approximately one of every 3,500 live births.

* About 1,000 new cases are diagnosed each year.

* More than 80 percent of patients are diagnosed by age 3.

* More than 10 million Americans carry the defective CF gene without showing any symptoms

At the University of Minnesota, Warwick was paying attention. Working under famed immunologist Robert Good, he had been studying immune system function in children with cystic fibrosis. He soon concluded that the key to survival was not improving the ability to recover from a lung infection, but rather keeping infections from cropping up in the first place. With the assistance of antibiotics, lung-clearing therapies and enzyme-packed pills, his patients gained a year, two years or a decade of life.

"The problem we have is not that CF is a disease--it's a genetic predisposition to catching diseases," says Warwick. "Probably the most important thing is the concept that lung disease in CF patients can be prevented, and that you should start treatment to prevent lung disease from the moment the diagnosis is made."

Along with teaching children and their families how to fight back, the center helped improve techniques for diagnosing CF. It established the world's first computerized database of cystic fibrosis patients--a valuable resource for research to boost survival. In the early 1980s, supported by funding from the family of patient Annalisa Marzotto, Warwick invented a vibrating vest that Dylan Mertz and thousands of others use daily to help clear their lungs.

When the Minnesota Cystic Fibrosis Center was established, fewer than half its patients lived to be more than 3 years old. Today, median survival for Minnesota's 500-some patients is close to 48 years--a record that few treatment centers in the world can even get close to.

"We've been developing the idea of CF as a disease that's compatible with having grandchildren and retiring and living to an old age," Warwick says. "When that's the natural way of cystic fibrosis, then what we have started here will be accomplished."

Setting the standard

Today, a main research focus for the U's Minnesota Cystic Fibrosis Center--located on the Twin Cities campus in Minneapolis--is exploring health issues that emerge as children with CF increasingly live to adulthood, like diabetes--which occurs in nearly one out of three adults with CF--and how reproductive hormones alter the impact of CF in women. Other researchers are looking at lung transplantation, sinusitis and gastroesophageal reflux disease in adults with the disease.

Nurse Denise Stacklie helps Dylan Mertz with a pulmonary function test.
Nurse Denise Stacklie helps Dylan Mertz with a pulmonary function test.

On the other end of the spectrum are efforts to improve diagnosis and treatment of CF early in life. This spring, hospitals throughout Minnesota will include a test for cystic fibrosis in standard newborn screening procedures. Center researchers are also exploring ways to apply novel molecular techniques to identify factors involved in early manifestations of the disease. By pinpointing markers of disease activity, they hope to improve the ability to intervene early on, when there is a better opportunity to prevent permanent damage.

And Dylan Mertz is doing what he can too. He takes his pills. He does his therapy. And he prays every day for the CF researchers and for a cure for the illness that tries--but has so far failed--to slow him down.