February 15, 2012 - Oxford dentist Dr. Paul Ferri is cautiously optimistic about a new drug called Kalydeco which he hopes will one day help his young son Tyler win his battle against Cystic Fibrosis (CF).
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"This could potentially be a breakthrough for Tyler," he said. "It treats the specific mutation that my son has."
Tyler, who will turn 4 in April, was diagnosed with CF when he was only three weeks old.
CF is an inherited chronic disease that affects the lungs and digestive system of about 30,000 adults and children in the United States (70,000 worldwide). Ferri and his wife, Kelly, are both carriers for CF as is their daughter, Katelyn.
A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that clogs the lungs leading to life-threatening infections and obstructs the pancreas, stopping natural enzymes from helping the body break down and absorb food.
Tyler has a mutation of CF known as G551D and it's this mutation that Kalydeco is designed to treat in patients age 6 and older. The drug, which comes in pill form, was recently approved by the U.S. Food and Drug Administration (FDA).
Present in roughly 4 percent of the CF patient population in the U.S., the G551D mutation involves a defective protein that moves to its proper place at the surface of a cell, but does not function correctly.
Instead, the defective protein acts like a locked gate, preventing the proper flow of salt and fluid in and out of the cell.
Kalydeco helps unlock that gate and restore the function of the defective protein. The drug dramatically improves lung function, lowers sweat chloride levels and helps patients gain weight.
"The kids and adults that have been on the clinical trials for this (drug) say they breathe more normally, they don't get winded going up stairs (and) they don't have a coughing fit every morning to clear their lungs," said Ferri, of the North Oakland Dental Group in Oxford. "That's why we're so excited about it."
Right now, Tyler isn't old enough or sick enough to reap the benefits of Kalydeco, but Ferri is hopeful the drug will improve the quality of his life when the time comes.
"This drug could actually turn that (defective) protein on, allowing his body to function more like yours and mine," he said. "The hope is he'll need less treatment, less enzymes (for digestion), maybe live more of a normal life."
"I'm hoping it's a cure," Ferri continued. "It sounds like it should be a cure, but you never know. You have to be cautious. You try not to get too excited because if it's not the miracle drug you're hoping for, you don't want to be too disappointed. But this drug is very promising. The potential is there."
Ferri is pleased to know that the nearly $30,000 his family, dental practice and community have raised over the last three years for the CF Foundation helped make a drug like Kalydeco a reality.
"The CF Foundation is not publicly funded by the government. It's all through private donations," he explained. "It costs $1 billion to get a drug from research and development to FDA approval. Any little part we can do to help a drug that hits so close to home is really important to us."
"The life expectancy for a child with CF is 36 years now," Ferri continued. "Ten years ago, it was 18. Drugs like Kalydeco are extending their lives."
On Saturday, Feb. 25, the North Oakland Dental Group will sponsor it's third annual "Bowling for a Cure" to benefit the CF Foundation. The event will take place at Collier Lanes (879 S. Lapeer Rd.) in Oxford Township from 1-3 p.m. It will feature bowling, a bake sale, raffle and prizes.
Cost is $15 per person for age 12 and under and $20 per person for participants age 13 and older. Pre-sale tickets are available by calling (248) 628-9557.
CJ Carnacchio is editor for The Oxford Leader. He lives in the Village of Oxford with his wife Connie and daughter Larissa. When he's not busy working on the newspaper, he enjoys cigars/pipes, Martinis/Scotch, hunting and fishing.