8-Year-Old Has Disease So Rare It Doesn’t Have a Name. Now He’s First in the World to Receive Treatment (Exclusive)
- - 8-Year-Old Has Disease So Rare It Doesn’t Have a Name. Now He’s First in the World to Receive Treatment (Exclusive)
Greta BjornsonDecember 5, 2025 at 11:45 PM
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Courtesy of Amber Freed
Maxwell and Amber Freed the day of his treatment -
Amber Freed's son Maxwell was diagnosed with the rare disease known as SLC6A1 shortly after he was born
Determined to find a way to help her son, her years of tireless work finally paid off earlier this year
In September, Maxwell, now 8, became the first person to receive treatment
Amber Freed's son was born with a disease so rare that doctors never formally named it. Although she was told there wasn't a cure, the mom was determined to find a way to treat her son's condition, known as SLC6A1. This fall, her years of tireless work paid off.
A neurodevelopmental condition, SLC6A1 can lead to debilitating epilepsy in children, as well as movement and speech disorders and intellectual disability — and Freed's son Maxwell received his diagnosis in the summer of 2018, about a year after she and her ex-husband welcomed Maxwell and his twin sister Riley after two years of IVF treatment.
Determined to give her baby a fighting chance, Freed poured all of her time and resources into finding a treatment for Maxwell, now 8.
The years of effort culminated in September when the mother-son duo gathered in a hospital room with his care team to administer the treatment that would hopefully change his life.
Freed, 44, previously spoke with PEOPLE in 2020, before the treatment was developed and approved by the FDA.
Although by that time she'd already been able to raise millions of dollars to fund the gene therapy treatment, the COVID-19 pandemic left her feeling "helpless" — and she estimates that the team lost around three years of progress due to a pause on most research projects.
As so much around them came to a standstill, the family's sense of urgency increased.
Symptoms of SLC6A1 typically show up in children at 3 to 4 years old, and Maxwell celebrated his third birthday in March 2020.
"We were able to buy him time by repurposing an already FDA-approved drug," Freed says, but she adds that "eery single time I tried to sleep while creating this treatment, I could hear a clock ticking above my head because that's Maxwell's life."
Courtesy of Amber Freed
Maxwell Freed
After five years of developing and testing the treatment, her determination paid off. Working with scientists, Freed procured genetically-engineered mice with the same genetic mutation as her son to test the treatment, then tested the treatment in pigs and presented the results to the FDA.
Freed says she told the agency, "We have all of this evidence, this treatment works, these kids have no other choice. This is as good as it's ever going to get for them."
With an eye towards the future, she asked, "and if it works for Maxwell, can we talk about treating more kids?"
"And the FDA said yes, let's do it," she recalls.
Richard Hill
Amber Freed and Maxwell Freed
Dr. Kathrin Meyer, whose laboratory at Nationwide Children's Hospital helped start the program to find a treatment for SLC6A1, tells PEOPLE she felt "pretty optimistic" about their odds.
Meyer — who Freed calls her son's "guardian angel" — says kids like Maxwell deserve recognition, too, for being the first to receive a treatment.
"That first patient is the highest risk of something going wrong, because there could be things that just don't show up in a safety study, in an animal model," Meyer says. "And those are really heroes, these kids."
Karla Isela Photography
Maxwell (L) with his sister, Riley (R)
Dr. Allison Bradbury also worked on creating Maxwell's therapy.
As the principal investigator in the Jerry R. Mendell Center for Gene Therapy at the Abigail Wexner Research Institute at Nationwide Children’s Hospital, she tells PEOPLE, "it’s too soon to call this a cure, but we are all optimistic that Maxwell will see lasting positive effects."
After years of tireless work, Maxwell's treatment was officially approved by the FDA on June 25. Freed tells PEOPLE she cried when she realized her son would be able to receive the treatment and could barely get her words out when she called her sister to share the good news.
Just months later, they walked into the hospital on Sept. 10 for Maxwell to receive his SLC6A1 treatment, which is administered only once and completed within two hours.
Freed admits she was "a little scared" that day.
"I've spent all of this time fighting for him and not spending time with him, like that came at an incredible cost for myself and him," she says. "But what if it's the wrong decision and it's not gonna work?"
She adds, "But I can say in my gut that I knew as a mom that this was his one chance to live and to take the moment. It was a very celebratory feeling in the entire hospital."
Natalie Roberson Photography
Maxwell Freed
Doctors and scientists joined Freed and her son in the room that day, where they all played Justin Timberlake's "Can't Stop the Feeling" and danced in celebration of Maxwell getting his "new gene."
The little boy was monitored in the ICU after the successful treatment, where he and his family ate food from Subway and listed to music from Timberlake and Bruno Mars.
These days, Maxwell is undergoing rehab after the treatment, and doctors were impressed with his progress at a recent visit. Freed tells PEOPLE, "We turned the switch on in his brain when he's eight years old. So it's a question of brain plasticity and how much he can regain after losing so much."
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Freed says her son, a "charmer," loves to spend his time dancing and singing, and especially loves "anything K-Pop Demon Hunters" — a passion he shares with his twin sister.
When asked about Maxwell, Meyer tells PEOPLE his special traits come from another remarkable person: his mom.
"He has a huge heart. He's so sweet. But he also has a very strong character. I think he's very strong. I think he's very smart," she says, before adding with a laugh, "And he's stubborn, you know, and I think that's Amber, too."
on People
Source: “AOL Entertainment”
