A Hall County family is one of several around the country petitioning the Food and Drug Administration to reverse a recent decision to deny approval of a drug they say has helped their daughter survive a rare illness.
Caroline and Ben Filchak say their 4-year-old daughter, Hope, has Microphthalmia with Linear Skin Defects syndrome, a mitochondrial disorder that has left her with deafness, blindness, a brain condition and multiple heart conditions.
The most serious of those heart conditions is cardiomyopathy.
"We've monitored her heart very closely throughout her life. In February of last year, her heart function started to decline," Caroline Filchak said.
Filchak said Hope has been receiving treatment at Children's Hospital of Philadelphia (CHOP), where they advised them about a drug known as elamipretide. The drug is believed to be produced solely in the United States by Massachusetts-based pharmaceutical company Stealth Biotherapeutics.
Caroline Filchak said CHOP doctors recommended them to try the drug with Hope, and she said it has been a success.
"Ever since we've taken the drug, so a year and a half now, her heart has maintained where it has been. It hasn't decreased (in function) anymore," Filchak said.
Filchak said she's also seen improvements in quality of life for Hope since they began using elamipretide.
"We saw a lot more energy out of Hope," Filchak said. "She was sleeping about 17 hours a day before we were able to start the drug. Now she goes to school, she sings and dances and plays. She's able to really thrive and live a full childhood."
On May 29 of this year, the FDA's Division of Cardiology and Nephrology issued a letter rejecting the new drug application for elamipretide as a treatment for conditions like Hope's. Filchak said the decision was disappointing, and now leave's Hope's long-term health in question.
"Stealth, the manufacturer of this drug, has cut 30 percent of their overhead to try to manufacture the drug for as long as they can. They're estimating that they probably can continue for another six to nine months if there's nothing that's changed with the FDA's decision," Filchak said. "We currently are still on it. They send you a six-month supply of the drug at a time. I probably have about four months left of it in my refrigerator. We give a shot of it to Hope every night."
She said the family has been trying to reach out to lawmakers and anyone else who may have the ability to convince the FDA to reconsider their decision. Barring that, she said the supply of elamipretide they have left may be all they can get.
"Depending on how this goes with the FDA over the next couple of weeks and if we are able to make any headway and get to anybody that has any influence that could possibly help reverse this decision, then the four months that I have left in my refrigerator might be all that I get," Filchak said.
