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Special Report: New Cystic Fibrosis Drug Brings Gift Of A Future

http://www.youtube.com/watch?v=N0NGZ4x6_CI

[Note: This is a "good news" story. It describes the scientific road to the first drug that successfully attacks the underlying defect in cystic fibrosis, bringing dramatic improvements. But the drug appears to work for only 4% of cystic fibrosis patients. CommonHealth plans to write next about the remaining majority, their lives and their prospects.]

The snowdrifts towered before her, taller than she was, dumped by yet another of last winter’s blizzards. The snowblower was broken. Her husband has a bad back. So Roe Van Epps picked up her shovel. When she had cleared her entire driveway, she turned to find her husband behind her, tears in his eyes.

Her first thought was that he was going to critique her shoveling. “What’s wrong?” she demanded.

Nothing was wrong. “Oh my God, you’re shoveling!” he said.

It sank in. “Oh my God!” she echoed.

In her entire 41 years, Roe had never been able to shovel snow. Or to run. Or to go a full winter without getting ill enough to need weeks of intravenous antibiotics.

She was born with cystic fibrosis, a genetic disease that affects 30,000 Americans, gumming up their lungs with dangerously thick mucus that tends to breed bacteria. At birth, doctors told her parents that her life expectancy was age five. Along with school and play, her youth consisted of hospital beds and piles of pills and hours each day of inhalation therapy.

Medical treatments that continually improved in small steps, from new antibiotics to improved enzymes, kept her alive. But she remained a person without a future, told at each life stage not to expect the next. Her husband planned for retirement. She did not.

Now, because of a still-experimental drug called VX-770, made by Cambridge-based Vertex Pharmaceuticals, that has changed.

Roe clearly has a spirit as sparkly-bright as a Roman candle. When she came to speak to the cystic fibrosis team at Children’s Hospital Boston recently, she wore zebra-print stilettos that made the same fun-wild statement as the many shades of red in her hair. But she is openly bewildered by the new possibility of living out a full lifespan.

“Now I’m like, holy cow, I might be 80!” she said. “Maybe I should start using some face cream!” It’s almost like she’s a different person: “I still have cystic fibrosis but I can do things, I can live my life.”

Roe does not use the word “cure.” No one does when they talk about VX-770. Dr. Greg Sawicki, a cystic fibrosis specialist at Children’s, says he would definitely call it a “major advance,” the first drug to come this far that attacks the basic defect in cystic fibrosis. More cause for optimism? Yes. But a cure? No.

Roe still takes antibiotics and does hours of inhalation therapy every day. She doesn’t dare stop. But “this is life-changing,” she said. “I’m very, very careful, I’m trying not to get excited, but I really am, at the same time.”

This is two stories, intertwined. One is Roe’s life with cystic fibrosis and then on VX-770. The other is a tale of amazing science — and a gamble of hundreds of millions of dollars that hit the medical jackpot. Researchers tell it with a hint of disbelieving awe in their voices: For once, nature played no tricks. For once, everything came together just as it was supposed to, from theory to test-tube to human patients. Continue reading