Paris girl gets lifesaving treatment

Photo: Matt Hongoltz-Hetling

CUR4CF — The license plate on Cailyn's car has been advertising a Cure for Cystic Fibrosis since she first got the car. Now, it seems that a major step has been taken toward that goal.

Photo: Matt Hongoltz-Hetling

YOUNG LOVE — Cailyn and her boyfriend watch television together while Cailyn takes a liquid formula in through a feeding tube in her stomach. She spends 10 hours a night hooked up to the feeding bag.

Photo: Matt Hongoltz-Hetling

FIRST CHANCE — Cailyn takes her first dose of ivacaftor, a new drug that should dramatically improve her battle against cystic fibrosis, while the staff of Norway Savings Bank cheers her on.

NORWAY — For most of the students of Oxford Hills Comprehensive High School, Wednesday, February 8 is just another day of classes, interacting with peers, and looking forward to the final bell.

But for one junior, Cailyn Fowler, the day is anything but ordinary.

The 17-year-old has a hard time focusing in history, despite the fact that it is taught by her favorite teacher, Mr. Vandemark.

"Good luck," he tells her, as she leaves.

She goes on to her culinary arts class with her friend, Deanna.

"Good luck," says Deanna.

Good luck. It is a phrase she has heard all day.

At 1:52 p.m., the minute the final bell rings, Cailyn hurries to the parking lot and gets into her car (the license plate reads CUR4CF). At 4-foot-10 inches and 83 pounds, she is both shorter and thinner than her classmates.

To the casual observer, there are only minor clues to Cailyn's medical condition. Her slight frame is one. Then there is her chronic cough. Other than these signs, no one would guess that, as a baby, she was diagnosed with cystic fibrosis (CF), a debilitating condition that afflicts 30,000 Americans.

No one would guess that, though she is just a teenager, she is also, by all expectations of the medical establishment, middle-aged.

Two weeks ago, there wasn't a doctor in the world who would have told her she would live past her thirties. The average age of death for those with CF is mid-twenties.

Cystic fibrosis is incurable, unmanageable, unforgiving.

But today is Wednesday, February 8.

It is, hopes Cailyn, a very special day.

Cailyn hops in the car and drives to Norway Savings Bank on Main Street, where her mother, Cindy, has worked for 30 years.

The bank's employees are gathered in a crowd. They cheer when they see her.

Cailynn stands by her mother, smiling quietly.

Everyone asks her how she feels, if she is excited.

She is, she tells them, she is excited.

Finally, the moment comes.

Her mother hands her a pill bottle and gets her a drink. Pills are not new to Cailyn. After all, she takes 37 pills a day.

But this little blue pill is different. This pill may be the pill to end all pills.

This pill, says her mother, is the closest thing to a miracle that she and Cailyn have ever seen.

A cure

Where did the miracle pill come from?

The short answer is that it came from a pharmacy operated by the Cystic Fibrosis Foundation.

The pharmacy is located in a five-story brick building in a commercial district of Bethesda, Maryland, a life-saving center nestled in among its more ordinary neighbors.

It is an unassuming location for the extraordinary work that is done there.

On Tuesday, January 31, just eight days before Cailyn arrived at the bank to cheers and applause, the Food and Drug Administration approved the drug ivacaftor called Kalydeco ^TM.

Based on the amazing success ivacaftor had in human trials, FDA said that pharmacies would be allowed to dispense the drug for a small percentage of those who suffer from CF.

The drug was approved at noon and just two hours later, by coincidence, Cailyn and Cindy Fowler were in the Cystic Fibrosis Clinic of the Maine Medical Center in Portland, talking to her nurse, Mary Ellen Corrigan.

Cindy remembers asking Corrigan about whether the new drug could help her daughter. She had heard about it through Facebook.

"The nurse looked at Cailyn and said, 'what mutation do you have?'" says Cindy. "Cailynn said 'I don't know,' so she said, 'I'm gonna check to make sure it wouldn't help. She went and checked and came back jumping up and down, saying, 'Cailyn, you're a match, you're a match!' She said, 'oh my God, you're a match!'

"Cailynn and I looked at each other and said 'what does that mean?' It's the closest thing to a cure you can get, that's what she told us."

Cailyn knows something about long odds. The chances of a baby being born with CF is just one in 3,500.

CF is the result of any one of 1,800 different mutations. Of all of those mutations, the drug ivacaftor fixes just one, referred to as G551D.

Remarkably, it is the exact mutation that Cailyn has.

Living with CF

Understanding how cystic fibrosis attacks the body gives insight into how difficult it can be for Cailyn to try to have a normal life.

In many cells throughout the body, there are tiny proteins called CFTR, which stands for Cystic Fibrosis Transmembrane cell conductance Regulator.

The proteins are gatekeepers in each cell. They allow water and salt to pass through the cell walls.

If the surface of, say, a lung cell is too dry, the CFTR will allow water to pass through the cell walls to the surface. This creates a healthy, thin flow of mucus to wash away bacteria and obstructions.

But in people who suffer from CF, there is a genetic mutation that stops the gatekeeper from passing water and salt through the cells. As a result, the mucus that flows along the inside of a person's lungs becomes thick and sticky. Instead of flushing bacteria out, it traps it and allows it to grow.

The thick, sticky mucus that characterizes CF gums up a variety of vital processes in the body. There can be chronic infection and pain in the sinuses; the liver and reproductive organs can be damaged. The pancreas is affected in a way that makes it difficult to digest food and absorb nutrients. The intestines become blocked, and there can be abnormally salty sweat.

But worst of all is the lungs.

"They get thick, sticky secretions in their lungs, and that damages the lungs," says Corrigan. The mucus makes it difficult for Cailyn to draw breath sometimes. Corrigan says that, when someone dies from CF, it's usually because of respiratory failure.

Cailyn has experienced all of these symptoms to some extent. She experiences frequent and severe stomach pain ("My stomach's been bad lately," she says soberly). She has a terrible time maintaining her 83 pounds, let alone gaining enough weight for the doctors to consider her healthy.

Then there is the coughing, often subtle, but always there.

"A lot of time she'll not only cough up blood, but she's thrown up all the mucus," says Cindy.

The blood is coming from deep in her chest, says Cailyn.

"Sometimes it pops the blood vessels in my lungs."

Cailyn says that her 4-foot-10-inch frame is also a result of CF.

"I have 'failure to thrive,'" she says. "It means I won't grow."

As bad as this staggering collection of ailments is, Cailyn's treatments are as frustrating for her as the symptoms.

To begin with, Cailyn has to go to the hospital regularly. On a semi-regular basis, despite all of her efforts to treat her CF, the disease overwhelms her body's defenses.

"She has to go into the hospital for what they call a CF cleanout," says Cindy. "When she gets out, she's pretty much back to new, until ... in three or four months, she's back at square one."

Every time this happens, Cailyn spends a couple of weeks at a time in the CF Clinic in Portland.

Corrigan estimates that Cailyn spends about a month out of every year of her life being treated in the hospital.

In all, that means that the 17-year-old has been in the clinic for nearly a year and a half of her life.

Even when she's at home, life is not a picnic. First, there are the 37 pills she has to take every day, for various reasons.

Then there's the feeding tube. Cailyn's flat stomach has a small plastic tube sticking out, just several inches to the left of her bellybutton.

It's unobtrusive, and serves a vital purpose, but she hates it all the same.

Every night, the tube is connected to a bag that feeds five cans of a thick, chalky, calorie-laden formula into her body.

"It's real thick, like a sludge," says Cindy.

They give her the equivalent of 3,000 calories a day, enough to keep an obese person four times her weight rolling in fat, but the CF ensures that her starving body will absorb only a fraction of the nutrients.

This is the first thing Cailyn mentions when she dares to talk about life on ivacaftor, a life that is not dictated by CF.

"Then I can just get my tube out. I want it out so bad."

"She still won't be able to take the tube out for a year," says Cindy, providing a gentle reminder to a girl for whom a year must seem like a lifetime. "If and when she gains weight, she'll have to maintain that weight for a year."

Then there is the Nebulizer, a machine that Cailyn uses to inhale medicinal vapors designed to break up the mucus in her lungs.

While she's inhaling air from the Nebulizer, she wears a vibrating vest, which looks like a clunky blue flotation jacket with air tubes that run to a unit the size and shape of a microwave.

When she's feeling well, Cailyn has to wear the vest for 40 minutes every day. It shakes her chest cavity, which helps to break up the mucus.

That's on a good day. When she's not feeling well, she undergoes three 40-minute sessions with the vest.

2011

About a year ago, clinical trials, involving real CF patients, were held under the requirements of FDA.

Cailyn wanted to participate, but, once again, CF took the choice away from her.

"They had the trial for it last year," she says. "Usually I took the trials, because if it was the right one or if it worked ... ." She pauses, trying to explain that every trial was a chance, no matter how slim, and therefore worthwhile. After all, she was a teen with a deadly disease that blocked her aspirations at every turn. What did she have to lose?

"I liked to try to do it," she continues.

She signed up, but at the last minute, she had to bow out of the trials.

"I couldn't do it last year because I grew bacteria in my lungs."

Finally, the drug was approved. Not for everyone, just those 4 percent of CF sufferers who have the all-important G551D mutation. And not even all of those, since children under six are not approved for ivacaftor.

In all, about 1,000 patients are able to try the miracle drug.

Still, the drug is an amazing success for Vertex, the company that developed the drug after 14 years of research.

"We overcame the prevailing opinion that a pill could not restore the function of a defective protein in a genetic disease," said Peter Mueller, the chief scientific officer for the effort.

The sticker price on a year's supply of ivacaftor is unimaginably high – $294,000.

For now, Vertex is picking up the tab for patients who need help, like the Fowlers. 

"We developed a comprehensive financial assistance and patient support program," said Jeff Lieden, who recently became the president of Vertex. "We know that a new medicine like Kalydeco is only beneficial if people are able to get it."

A cure?

CF can't really be cured, even for those 1,000 patients who, like Cailyn, can be helped by ivacaftor.

But if it can eliminate the symptoms, then it is as good as a cure for those who live with it.

The early trials have shown that patients on ivacaftor see a marked improvement in lung function, less coughing, better breathing, fewer hospital trips, and weight gain.

There are also a range of potential side effects, such as headaches, but it seems like a small price to pay.

In the days after beginning to take her ivacaftor, has Cailynn's life improved?

It will be a while before the doctors are comfortable telling her to stop any of the routines that are designed to keep the mucus at bay.

But Cailyn herself reports that the early results are promising. Her teachers are telling her that they see color in cheeks that only looked pale before.

"Mr. Vandemark said that he didn't realize I had freckles until this week," she reports, just five days after taking ivacaftor for the first time.

Nothing, perhaps, would communicate the effects of the drug on her body, and her mind, than her own journal, which she has been keeping since February 8, that very special day when the bottle of pills came in the mail.

"Day 1- February 8, 2012:

Got my appetite back and I ate a lot more than usual.

Day 3- February 10, 2012:

Not that wheezy anymore when I woke up, breathing felt a little better.

Day 4- February 11, 2012:

Woke up and could take a nice deep clear breath, very hungry all the time.

Day 5- February 12, 2012:

Felt energetic, wanted to do something so I could move around, breathing was better.

Day 6- February 13, 2012:

Not coughing at all ... gained 4 pounds.

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