The front door of the Fontana family's home, near 31st Street on the west side, is wide open.
It leads to the sunny living room, crowded with small chairs. Birthday cards are strung midair over boxes of toys; snacks sit partially munched on a miniature table. In one corner, a strange contraption, with pieces resembling a vacuum and a tiny life vest, gathers dust.
Jeff and Camille Fontana have two boys, Evan, 2, and Dylan, 6. They look like versions of the same child. Both have their mother's huge blue eyes, silky medium-brown hair and good-natured smiles. Both buzz around the house sharing toys and even partaking of the slightly slobbered-on dry cereal. But the vest and the vacuum belong solely to Dylan.
He's the one with cystic fibrosis, a terminal genetic disorder that causes the body to produce thick mucus that collects in the lungs and pancreas, hindering digestion and leading to serious lung infections. There is no cure.
For three years, ever since Dylan's diagnosis, the Fontanas have been adjusting to a harsh reality. CF patients' median lifespan is 37, and many die in their teens. They've learned that the rest of Dylan's life will revolve around treatments like the "contraption," used to vigorously shake Dylan's chest to loosen mucus. The boy grudgingly wears it twice a day for 20 minutes, while watching Looney Tunes.
There are the frequent antibiotics; trips to the doctor and hospital; and the pills Dylan must take at each meal so he can digest at least some food. (Dylan eats as much as an adult, but he's just 40 pounds and 3½ feet tall.)
"We always just watch the cough," Jeff says, turning a wary eye to his son.
These days, however, have been more cheerful for the Fontanas. Even cautiously hopeful. The Food and Drug Administration just approved a new drug to treat CF, which could mean many more years of life for Dylan. And a lot less sickness.
"It's like our miracle pill," Camille says. "It's like hope in a pill. Words can't really describe how life-changing it was for us."
Good things come in...
Kalydeco was approved Jan. 31 to treat CF patients with a gene mutation known as G551D.
There are more than 1,000 possible mutations of the CF gene, and G551D only causes 4 percent of the cases in the U.S. — about 1,200 people. But for that 1,200 — perhaps a couple dozen of them living in Colorado — Vertex Pharmaceuticals' medicine is a godsend.
Unlike other treatments that merely address CF symptoms, the drug regulates the disease on a cellular level, allowing the body to behave more normally. After clinical trials, it was quickly approved for patients 6 and older, priced at an astonishing $294,000 per year. Insurance usually covers part, Vertex offers discounts to some, and the Cystic Fibrosis Foundation is helping others. (Jeff, who works at Mountain Mama Natural Foods, and Camille, a stay-at-home mom, would have been sunk long ago if not for Medicaid.)
"The approval of Kalydeco is a significant breakthrough for the cystic fibrosis community. It's the first drug to successfully treat the underlying cause of this disease," Robert J. Beall, the foundation's president and CEO, says via e-mail. "Kalydeco has the potential to transform the lives of people with the G551D mutation of cystic fibrosis, and the research behind this drug has opened exciting new doors that may one day lead to a cure for all people living with CF."
Frank Accurso, professor of pediatrics at the University of Colorado School of Medicine, and Cystic Fibrosis Center director at Children's Hospital Colorado, ranks among the nation's leading experts on the drug; he's served as lead investigator for Phase 2 of the drug's trials. He says there's plenty of work underway to understand more about how Kalydeco works, and whether it could help more patients. For now, though, Accurso says Dylan is likely one of the luckiest.
"A lot of this is not understood, but we know [the drug] works," Accurso says, "and we do believe that starting it younger is better."
The result? "We don't have to look forward to a future of [Dylan's] health declining," Camille says. "And that's what you brace yourself for, with a child with CF."
Born in Hawaii, Dylan wasn't tested for CF as an infant, but his parents knew something was wrong: He coughed often and grew slowly. The family moved to Colorado when Dylan was a baby, but even a new set of doctors weren't convinced anything was seriously amiss until Dylan was 3 and contracted pneumonia.
Dylan was treated at Children's Hospital in Denver, and hooked up to an IV that dropped a steady flow of antibiotics into his tiny body. A doctor suggested testing for CF.
When they heard the news, Jeff and Camille both say they felt "relieved and devastated." They finally knew what was wrong, but CF meant a shortened life. Worse, Camille was pregnant with Evan, and had to wait to find out if he too would have the disorder.
Not everybody's miracle
In the ensuing years, the Fontanas have made friends in the CF community. One bond is especially strong.
Through the Internet, the Fontanas met a family with two girls the same ages as their boys. Like the Fontanas, the other family's first child has CF. Their little girl and Dylan were diagnosed on the same day.
But Dylan's miracle pill won't help the little girl. She doesn't have the right mutation.
"The excitement we felt about this was a little bit dampened," Camille says, "by the fact that the other families that struggle along with us don't share in that excitement."
Accurso, however, hopes Kalydeco is the first stepping stone to treating more patients with CF, and maybe even others with similar genetic diseases. He says Kalydeco is the first drug to treat a genetic disease by repairing a mutation on the cellular level. Studies are currently underway to see if Kalydeco may help more CF patients, either by itself or with the help of other drugs currently under development. There's even research underway to see if the drug could help others with similar genetic diseases.
And while there still is no cure for CF, Accurso says there's now hope that it may no longer be a death sentence. "We hope that this is a manageable disease," he says.
For Dylan, it's certainly looking that way. Asked how he feels, he cocks his head sideways and gives a big smile: "I feel good!"
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