SAN DIEGO (KGTV) - A 5-year-old girl diagnosed with a rare and devastating brain disorder is showing remarkable signs of progress months after becoming one of the first people in the world to receive an experimental gene therapy treatment.
Harlow was diagnosed with TUB4A leukodystrophy, a rare brain disorder that carries a grim prognosis. Her mother, Daphne Graskewicz-Prado, said doctors delivered devastating news after the diagnosis.
"We were told that she would lose every ability that she had. She would become locked in her body, but mentally still 100% there until she passed away," Graskewicz-Prado said in November.
A Carlsbad nonprofit, n-lorem Foundation, developed an experimental gene therapy and offered to cover a significant portion of the cost. In October, Harlow received the first of 4 yearly doses at Rady Children's Hospital, becoming the second person and first child ever to receive the spinal injection treatment, which aims to silence a toxic gene.
Soon after, something remarkable happened.
Harlow began walking with a walker — and her progress has continued. A few months ago, she rode a bike for the first time.
"She's been able to ride her bike for the first time," Graskewicz-Prado said.
Harlow is also learning to write, and her speech continues to improve. So does the singing to her favorites.
"It just thrills her, because previously she would cry and say, ‘you know, mommy, why, why can't I sing like them?’ and now she can," Graskewicz-Prado said.
Graskewicz-Prado described her daughter's overall transformation in simple terms.
"Progress has been nothing short of amazing. She's just blossomed," she said.
Since a November report on Harlow's story first aired, donations poured into a GoFundMe campaign. Dozens of families from around the world have reached out to Harlow's family, and some 20 other children have now begun receiving n-lorem’s treatment. While the nonprofit pays for the medication and treatment, the process remains costly, including travel and other hospital costs. Insurers will usually cover only part of the medical costs, forcing the other families to start fundraisers.
On Wednesday, Harlow and her mother spoke at a GoFundMe company event in San Diego, where Harlow was seen walking alongside GoFundMe CEO Tim Cadogan.
The mother and daughter have a phrase they say together every night.
"Let's change the world together," Harlow told the crowd.
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