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Young girl living with rare mitochondrial illness
A local family is fighting for medicine to save their little girl. The four-year-old suffers from a rare illness that could kill her. She must travel to Philadelphia for many of her treatments.
HALL COUNTY, Ga. - A Hall County family is pleading for help as they fight to keep their four-year-old daughter alive with an experimental drug that has not yet received FDA approval.
What we know:
Caroline and Ben Filchak say their daughter, Hope, has a rare mitochondrial disorder called MLS, or mitochondrial DNA depletion syndrome. It’s so uncommon that fewer than 100 people worldwide are believed to have the condition.
Diagnosed at six months old, Hope has been left deaf, blind and with two serious heart defects — including cardiomyopathy, a potentially fatal form of heart failure. Her parents say a drug called elamipretide has made a significant difference in her condition, but the treatment is still considered experimental and not yet approved by the Food and Drug Administration.
What they're saying:
"It’s a lot. It’s very heavy," said Caroline Filchak. "She is a miracle child."
The family regularly travels to Philadelphia for Hope’s treatment, where she was enrolled in a clinical trial at the Children’s Hospital of Philadelphia. Dr. Amy Goldstein, one of Hope’s doctors, said the drug is showing real results.
"There’s no question the drug works," Goldstein said.
But proving that in a way that meets FDA standards has proven challenging.
"It’s not that the drugs aren’t working," Goldstein said. "It’s just the outcome measures we are using for the trials are failing to prove they are working."
Because of the rarity of mitochondrial diseases, gathering enough patients for robust clinical trials is difficult. The FDA also requires evidence of measurable improvement within specific time frames — benchmarks that are tough to meet with such complex conditions.
While they wait for progress, the Filchaks are doing what they can locally. They have launched a nonprofit called Hope for Hall, which advocates for children and supports the development of inclusive playgrounds in Hall County.
"We believe God gifted us with Hope," said Caroline Filchak. "My prayer would be I want her to have a long life. She’s a happy little girl."
What's next:
The family says if the drug is approved, they believe Hope could live many more years — with a smile.
The Source: FOX 5's Kevyn Stewart spoke with Caroline and Ben Filchak for this article.