Durham, N.C. — The film “Extraordinary Measures,” which opens in theaters next week, is the story of a father searching for a life-saving drug for his son who suffers from Pompe disease, a rare genetic disorder.
In Pompe patients, the blood lacks an enzyme that breaks down glycogen. The glycogen collects in muscles, including the heart, and weakens them.
“Children who present with it are very severely affected within the first couple months of life,” said Duke Hospital pediatrician Dr. Priya Kishnani.
Most children with Pompe die within the first year, Kishnani said.
In the film, John Crowley (played by Brendan Fraser) recruits a scientist with a lead on a new drug. The scientist (played by Harrison Ford) starts his own biotech company to begin trials.
In real-life, the drug was not developed by Crowley and his company. The drug was developed at Duke University Medical Center by Dr. Y.T. Chen in the animal laboratory. Kishnani helped bring the drug to humans.
“It's like providing insulin to a patient with diabetes. For someone with Pompe disease, it's providing that missing enzyme,” Kishnani said.
Abby Phelps has an adult-onset version of Pompe. Four years ago, she was among the first adults in a clinical trial to receive the drug Myozyme.
“It’s been like a miracle. I was on oxygen 24 hours a day,” Phelps said recently.
The genetic disorder has also popped up elsewhere in her family tree. Phelps’ second cousin’sson also has it.
Dakota Bridge's older brother, Mason, died of Pompe at 7 months old. While still in the womb, Dakota tested positive for the disease.
Just before Dakota’s birth in 2006, the U.S. Food and Drug Administration approved Myozyme.
“He was able to get it at 2 weeks old,” Dakota’s mother, Dina Bridges, said.
Four years later, with biweekly infusions, Dakota is living a normal, happy and active life.
Current research is focused on gene therapy to help the body to produce the enzyme on its own. It's that kind of hope, Kishnani says, that makes the movie so timely.
“One couldn't have asked for more in the situation to raise awareness,” Kishnani said.
Kishnani also hopes the movie will prompt more states to include Pompe disease testing in newborn screening, so children may be treated early. New York and Illinois are the only states that currently test newborns for the disease.