New therapies extending lives of cystic fibrosis patients

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Twice a day, 6-year-old Madison Mathias puts on a black electronic vest, climbs onto a comfy couch in her family room, and vibrates.

Madison has cystic fibrosis, and the vest is designed to break up the mucus deposits that can clog her lungs.

Alyssa Cwanger, Post-Gazette photos
Madison Mathias, 6, cuddles up to her with her mom, Kristen, during one of her twice-daily treatments with an electric vest whose vibrations loosen the mucus that accumulates in her lungs because of cystic fibrosis.
Click photo for larger image.

It shakes her gently for 20 minutes at a time, turning her voice into a lilting Gatling gun. Sometimes, 2-year-old Rachel will put on one of Madison's old vests and climb up on the couch next to her in the their home in East Liverpool, Ohio, emulating her big sister.

The vibrating vest, introduced about a decade ago, is one of a host of recent therapies that have contributed to a dramatic improvement in life expectancy for cystic fibrosis patients.

CF is an inherited defect that interferes with the body's ability to clear mucus from the lungs, liver and digestive system.

The lungs are the critical organs affected by the condition.

Normally, said Dr. David Orenstein of Children's Hospital of Pittsburgh, our lungs are coated with a thin layer of mucus that sits on an even thinner layer of water, which covers tiny hairlike cilia that line the airways.

Every day, he said, "The crud you breathe in lands on this mucus, and then through a beautiful protective mechanism, these cilia move in a coordinated fashion -- it looks kind of like a wheat field with the wind blowing over it -- and they carry this blanket of mucus upward toward the back of the throat."

In CF, though, the cilia can't move properly because not enough water gets to the surface of the airways, "and so you end up with sticky mucus that is difficult to clear and provides a haven for bacteria, so it's easy for infection and inflammation" to set in, "and that leads to progressive damage of the airways" that ultimately can kill those patients.

Cystic fibrosis is still the most common lethal inherited disease among Caucasians, but average life expectancy is now in the mid-30s, a huge improvement over 20 years ago, when it was in the late teens.

As Dr. Orenstein likes to tell CF families, life expectancy over the past couple of decades "has increased by almost a year for every year that's gone by."

That is why Ashley Arrington of Cranberry can look forward to going to Brigham Young University next year and living an untold number of years beyond.

Ms. Arrington, an 18-year-old senior at Seneca Valley High School, said the only thing she's nervous about is having to tell her college roommate why she needs to wear the vibrating vest twice a day.

"But it'll work out," she said confidently. "I personally don't like to be very open about this. I don't see it as that big a deal, and I guess I don't feel the need to share it with everyone."

Targeted therapies

The CF therapies developed over the last several years are designed to attack the mucus layer and the problems that go with it.

For Madison Mathias, that adds up to a demanding daily routine.

Her mom, Kristen, gets her up at 6 a.m. each day so she can wear the vest before she goes to school, a process that's repeated each evening. With daily use, the amount of mucus shaken loose by the vest is so small it's hardly noticeable.

Twice a day, she also inhales a fine powder called Advair, a bronchodilator that expands her airways.

While CF's main target is the lungs, it also interferes with digestion, so Madison takes digestive enzymes before her meals and takes antacids in the morning and evening.

And that's just when things are going well. When CF patients get serious infections, the treatments can ramp up quickly.

When Madison was 8 months old, she went into the hospital for 31/2 weeks with a lung infection. Afterwards, she had to undergo eight treatments a day with a nebulizer that sprayed a fine mist of medications into her lungs through a mask over her face.

She breathed in a bronchodilator; a steroid to reduce inflammation; an antibiotic to cut infections; and a substance called DNase that thins the mucus. "It seemed to last forever," Mrs. Mathias said.

Some of these medications -- like DNase and the antibiotic TOBI -- have only emerged in recent years, and are part of the reason life expectancy has increased so rapidly.

The ongoing development of therapies is one thing that has helped the Mathias and Arrington families cope with the shock of finding out their firstborn children had CF.

Both Madison and Ashley started life with digestive problems, and were only diagnosed with CF later.

Ashley was born eight weeks premature in 1988 and needed immediate intestinal surgery. Her mother, Lynne, said that "at the time, the chances were only one in five that she would make it through the surgery, but she sailed right through" and did fine until she got pneumonia when she was 5 months old.

That is when she was diagnosed with CF, although her mother already had suspected it "because every time I kissed her she was salty."

The salty sweat of CF babies is a telltale marker of the genetic defect that causes the disorder.

Mucus builds up in CF patients' lungs because they lack the gene that normally transports salt and water to the surface of the airways. The flip side of the defect is that it pumps more salt than normal out of the body in the sweat.

Ashley was born before the invention of the vests, so her parents would spend hours tapping her chest, back and sides with their hands to loosen the mucus.

One of her earliest memories was going into Children's Hospital with a viral infection when she was 4. She was put under a mist-filled plastic tent, which she remembers because it made it hard for her to watch "Sesame Street."


CF hasn't kept Madison from being active; in fact she recently started playing soccer. A burst of energy here sends her around the living room of her family's home.
Click photo for larger image.

After she started school, it turned out Ashley was allergic to a fungus called aspergillus, and ever since, she has taken high doses of an antifungal medication.

Having damaged lungs doesn't mean that CF patients have to avoid physical activity, though. Dr. Orenstein has championed vigorous exercise for CF children, and Ashley played soccer and swam in elementary school.

"But by eighth grade I couldn't keep up anymore," she said, and so she switched to the golf and Ultimate Frisbee teams.

Madison Mathias has just started soccer herself, and she had no trouble running in circles around the family room recently while her sister chased her.

There was nothing forced about her sunny mood, either.

Her father, Jim, said that "Madison's not a worrier. She can deal with just about everything."

Like Ashley, Madison had intestinal surgery shortly after birth, and wasn't diagnosed with CF until a few days later. "When they told us it was cystic fibrosis," Mrs. Mathias said, "we really didn't know what it was."

She began to learn more by poring over a textbook Dr. Orenstein has authored for patients and families.

It was unsettling.

"You read this stuff and it seems like you're crying all the time." When she read then that Madison's life expectancy might be in her late 20s, "that was just like, oh my goodness, I was already older then she was expected to live to."

But today, Madison's CF is simply a part of their lives, and Jim Mathias says that "we're planning for her future the same as for Rachel. When the time comes we want her to have the chance to go to college."

The root of the problem

As Madison and Ashley face their futures, doctors are trying to develop therapies that go beyond treating symptoms and instead attack the underlying problem.

The genetic defect that causes CF was discovered in 1989, and researchers initially were optimistic they would soon find a cure by inserting normal copies of the gene into patients' bodies.

But like other genetic therapy, that solution has proven elusive because of the difficulty getting enough copies of the normal gene into patients.

Dr. Jay Kolls, a researcher at Children's Hospital, is investigating another novel treatment for CF that he hopes to test in humans in five to 10 years.

Much of the damage to CF patients' lungs is caused by inflammation that occurs when their bodies try to fight infection.

Dr. Kolls is working to develop antibodies that would block the inflammation triggers, which could extend the useful life of patients' lungs for many more years.

In North Carolina, a company founded by CF researchers has identified a substance that might boost the body's ability to transport salt and water to the airways without relying on the defective CF gene.

"It is the first new drug that has the potential to greatly affect the course of this lung disease by attacking the fundamental defect," said Dr. Richard Boucher, one of the company's founders.

These nascent therapies may stretch the clock for Ashley and Madison.

But Ashley Arrington doesn't dwell on that.

"I haven't really considered CF in my future. Whatever happens happens," she said.

"I'm not going to plan my future around it. I think that's always how we've looked at it."


Mark Roth can be reached at mroth@post-gazette.com or at 412-263-1130.


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