Gene Therapy Restores Girl's Eyesight

Gregory Vellner

Livie was five when doctors determined the problem – Leber congenital amaurosiss (LCA), said Dr. Marc Mathias of Children's Hospital Colorado, noting it's a degenerative eye disorder, and the condition results in severe visual impairment, as it affects the retina and tissue at the back of the eye.

With that known, the journey then began to better Livie’s life, and included some advice upfront from her father, Darren Klinefelter of Boulder CO.

“We told her, ‘you need to rise up to meet the challenges life throws at you,’ “ said Klinefelter. “You got dealt a curveball, and you don’t see as well as the rest of the people, so you need to step up and do a better job by making adjustments.’ She understood that.”

The diagnosis by Dr. Mathias was followed by information from him the little girl might be a candidate for gene therapy treatment under study in a clinical trial. But two things were needed first, said the doctor: approval of the new procedure by the federal Food and Drug Administration (FDA), and a genetic test conducted on Livie.

Needing to step aside for a time, the family said, they vacationed in Germany. And while at a medieval castle with her parents, Darren and Jeannine, and sister, Avery, Livie (short for Olivia) knelt on a prayer kneeler her father said and said, “Dear Jesus, please let there be something when I get older so I can see again.”

Back at home, a genetic test confirmed Livie had the LCA disorder, and soon after, the family learned the FDA had approved the gene therapy procedure being study in the clinical trial. All was lining up, the family said, and it was a “go” for Livie. She and her family headed for Los Angeles CA.

The treatment procedure to be used on Livie is for patients with an inherited retinal disease caused by mutations in both copies of the RPE65 gene, and who have enough remaining cells in the retina, according to the FDA's "product review" when approving the new treatment method. In it, it also said a functional gene is delivered in a cell in the procedure that works to restore vision, and without success, the mutations cause vision to deteriorate and may progress to complete blindness.

Surgery on Livie's eye took place, and on the following day, doctors cautiously removed covering over the site, the family said. Everyone nervously awaited the outcome, the family said, and it played out like this: looking up at her father, Livie excitedly said, “You have blue eyes, Daddy.” The procedure was a success, doctors said, and plans made several days later for surgery on the other eye.

At home now following the two successful procedures, Livie is flourishing, says her father. “When we ride bikes, Livie now leads the way,” said Darren. “And she even plays goalie for her soccer team. One of my favorite stories, though, comes from her teacher, who asked Livie if she could see the equations on the chalkboard at the front of the class. She responded, ‘Of course I can see them. I have new eyes.’ “

Now 8 years old, Livie’s vision continues to improve, her parents said, and she is more active than ever with ski and karate lessons.

“Livie used to sit in the front row and use an iPad a few inches from her face to see,” said Darren. “But now she sits with other kids, and it’s just changed everything. Her teachers always say she’s fiercely confident.”

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As a professional journalist for several years -- reporter, editor, feature writer, columnist -- I handled a range of subjects. Breaking news, investigative series, government action, feature events, and staff feature writer with national entertainment magazine interviewing stars including Tom Selleck, Mel Brooks and Danny DeVito. No matter the topic, certain ingredients are key: truth, facts, objectivity, balance.

Bucks County, PA
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