Texas Mom Funds Gene Therapy That Saved Her Son

A former stock analyst with no medical background just orchestrated a medical breakthrough that could help thousands of children worldwide.

Amber Freed's son Maxwell was just over a year old when genetic testing revealed he had a neurological disorder caused by a variation in the SLC6A1 gene. Only dozens of people had ever been diagnosed with the condition, which affects brain function and development.

Doctors told Freed to expect debilitating seizures, movement difficulties, and intellectual delays. They also admitted they'd be learning about Maxwell's condition alongside her because so little was known.

So Freed did what felt impossible. She quit her high-paying job as an equity research analyst at a prestigious investment firm and taught herself genetics.

She devoured "Genetics for Dummies" and "Molecular & Cell Biology for Dummies" to understand the scientific papers. She scheduled calls with European researchers in the mornings, American scientists in the afternoons, and Asian experts at night.

Her research pointed to one person who could help: Dr. Steven Gray at UT Southwestern Medical Center in Dallas, who specialized in gene therapy. When he didn't return her calls, Freed sent Panera cookies to his office daily until "it was so socially awkward he had to call me back."

That persistence paid off. Freed coordinated teams of scientists, doctors, and financial donors to develop a gene replacement therapy that had never existed before.

Maxwell couldn't walk until he was three and a half. He still experiences occasional seizures and learns at a different pace than his peers. But in September, he became the first person in the world to receive gene therapy for SLC6A1.

The Ripple Effect

Thousands of families are now watching Maxwell's progress with hope. Freed hosts video conferences every two weeks to update other parents whose children have the same condition.

During one recent call, 25 parents from as far as Belgium and France logged on to meet Maxwell. The 8-year-old with sandy blond hair climbed onto his mother's lap and answered their questions about his favorite color (rainbow) and his new bed (good).

Then he stood with his twin sister Riley and sang a few lines from "Golden," the Oscar-winning song from an animated film. The lyrics about finding your way mirror his own journey from diagnosis to groundbreaking treatment.

"Everybody's desperate to get this treatment," Freed says. What started as one mother's refusal to accept "we don't know" as an answer has become a roadmap for treating a rare disease that affects thousands.