On the surface, Lindsay Shipp’s story may sound sad, but it’s a story of hope with a happy ending.

All her life, Shipp has been trying to keep up a positive attitude. She knew the disease from which she suffered – cystic fibrosis – could cut her life short, but she tried to play it off like she was fine.

“I wanted to be strong for my family,” said Shipp, 28, an inventory analyst for Apple who lives in San Diego with her husband, Charles. “If they saw fear in me, they’d crumble. But I was scared . . .I’m not going to die of natural causes, I am going to die from CF.”

Shipp – who was involved in a clinical trial for a drug that treats the root cause of CF -- can finally start to relax. The drug, kalydeco (generic name ivacaftor and made by Vertex), was approved by the U.S. Food and Drug Administration at the end of January after demonstrating it improves the lung function in patients with a rare variant of the disease that affects 1,200 Americans.

“I can exercise, I can go out and run – I’ve never been able to do that my whole life,” Shipp said. “I’m training for a 5K – not because I enjoy running, but because I can do it.”

Affecting a total of 30,000 Americans, CF is a life-threatening disease that has no cure. It causes a sticky mucus build-up in the lungs and other organs as well as multiple infections and digestive problems.

The median lifespan of a CF patient is currently in the mid-30s, according to Dr. Mark Pian, director of the UCSD School of Medicine Rady Children’s Hospital CF Center in San Diego. Pian oversaw the clinical trial in which Lindsay took part, and he immediately noticed a difference.

“In the mildest situation, one may have a chronic cough, but no real impairment in day-to-day living,” Pian said. “However, this is not the case as the disease progresses. The most common symptoms are chronic, productive cough and mucus and nutritional impairment that gets progressively more severe with time.”

Such was the case for Shipp, who said she noticed her symptoms really intensified in high school. An avid dancer and singer, that’s when “things went downhill,” she said.

“I was having trouble breathing with dance, I was sick a lot and out of school – my peers were like, ‘Where are you?’ I’d have to explain I was being treated for CF,” Shipp said.

When Shipp was first diagnosed with the disease as a baby, doctors told her parents she’d be lucky if she made it to high school.

“They tried to give me the best life possible, and I kept outliving the life expectancy because it was changing,” she said. “As a kid, my goal was to graduate college. I didn’t have much plans for after that.”

Pian said more patients are expecting to lead full and productive lives, but with the knowledge that CF will shorten these lives. He expects there will one day be a cure for the disease, but in the meantime – there’s kalydeco.

“Lindsay described a difference to me almost immediately, and I could see this for myself in the first few weeks,” Pian said. “Of course, neither of us knew whether she was taking kalydeco or placebo. She was certain, and turned out to be correct, that she was taking (the drug).”

Kalydeco is a little blue pill that’s taken twice a day. Its most common side effects include upper respiratory tract infection, headache, stomachache, rash, diarrhea and dizziness.

But Shipp said she’s never felt better. Her treatments prior to taking the drug were timely and annoying, filling up most of her day.

Shipp would often be treated with high-frequency chest wall compressions, or as CF patients refer to it – she would have to wear ‘the vest.’

According to Shipp, the vest has tubes attached to it connecting to a larger unit that puffs air – and the whole machine shakes your body. The treatment can take anywhere from 30 minutes to one hour and is done two or three times a day.

“It’s a full-time job on top of your job,” Shipp said, adding she also had to take nebulizers and inhaled antibiotics. And although Shipp said she has reduced the number of times she is using the vest, Pian said patients should still use it, along with other drug protocols prescribed by their doctors.

How the drug works

CF is caused by defective or missing CFTR proteins resulting from mutations in the CFTR gene, Pian explained. Those proteins act as channels at the cell’s surface and affect the flow of salt and water across the surface of organs, such as lungs and the gastrointestinal tract. When the defective protein fails to work, that’s when the sticky mucus builds up.

The drug is approved for people age 6 and older who have at least one copy of the G551D mutation in the CFTR gene.

“Kalydeco is designed to keep CFTR protein channels at the cell surface open longer to improve the transport of salt and water across the cell membrane,” Pian said. “The desired effect is that the dry, thick CF mucus will become better hydrated to clear.”

Pian said a lot of work still needs to be done in the CF field – but kalydeco’s approval shows a cure can be possible.

Vertex said it anticipates major insurance companies to cover the cost of kalydeco, but since the drug’s approval is still so new, there’s not a lot of data available yet.

“We do have a comprehensive program in place to make sure eligible patients can get it,” said Megan Goulart, a spokeswoman for Vertex, which includes a free medicine program for people who do not have insurance, co-pay assistance for those who do have commercial insurance and referrals to third-party foundations for those with Medicare or Medicaid or who live in Massachusetts.

Visit Vertex’s website to learn more about these programs and the drug.

Vertex worked with The Cystic Fibrosis Foundation, which provided data and contributed $75 million of funding toward the drug's trial.

"(This) marks an important milestone in our journey to find a cure for cystic fibrosis," said Robert J. Beall, president and CEO of the foundation. "Kalydeco addresses the underlying cause of cystic fibrosis, and the science behind the drug has opened new doors that may eventually lead to a cure for all people living with this disease."

A recent newlywed, Shipp never imagined she would be able to have children naturally, a dream she is beginning to think may come true thanks to the clinical trial.

“With this pill, it’s possible that I can have kids and lead a full life to raise them,” she said. “I don’t have to worry about dying before they graduate.”

Click here to learn more about Lindsay by reading her blog.