DALLAS, TX - When doctors told Texas mother Amber Freed that her son’s genetic disorder was too rare to warrant treatment, she refused to accept it. Eight years later, her determination has placed her son, Maxwell Freed, at the center of a medical milestone that could change the future of rare disease research.
Maxwell is now the first patient in the world to receive a gene therapy designed to treat SLC6A1, a rare neurological disorder that causes epilepsy, developmental delays, movement and speech impairments, and behavioral challenges. The one-time treatment, administered as part of a clinical trial, is already showing early signs of success and is driving a nationwide fundraising effort to expand the trial to more children.
“There’s only ever been one option, and that is to fight like a mother so my son could have the best chance at a long, normal life,” Freed said. “I am filled with gratitude and joy in announcing Maxwell has received a one-time administration of a gene therapy treatment for SLC6A1, and he is doing very well.”
Maxwell was diagnosed in 2018 at just two years old. The disorder, first identified in 2015, is so rare it is known primarily by its genetic code rather than a disease name and is not included in newborn screening panels. The SLC6A1 gene regulates the brain’s primary inhibitory neurotransmitter and has connections to broader neurological conditions, including autism, Parkinson’s disease, ALS, and Alzheimer’s.
In December 2025, Freed’s nonprofit, SLC6A1 Connect, announced Maxwell’s treatment during its International Scientific Symposium and Family Conference. The gene therapy delivers a working copy of the gene directly to the brain through an intrathecal injection, targeting the root cause of the disorder rather than managing symptoms.
Nearly four months after treatment, Maxwell is showing measurable improvement. An electroencephalogram revealed healthier brain wave patterns, and Freed reports gains in muscle tone, stamina, and cognition. One month after receiving therapy, Maxwell was able to trick-or-treat for an entire evening and carry his own candy bag, something his mother says was previously impossible. He will continue to be monitored for three years as part of the trial.
Getting to this point required extraordinary effort. Freed raised $10 million independently, assembled a global team of scientists, and spent five years developing the treatment pathway. The team created a CRISPR-engineered mouse model replicating Maxwell’s genetic mutation, followed by successful testing in pigs. Those results were submitted to the FDA, which approved a single-patient trial with the goal of expanding into a Phase 1/2 study.
Now, Freed is working to raise another $10 million to open the trial to roughly 10 additional children across the United States. Fundraising is being led by SLC6A1 Connect, supported largely by families affected by the disorder. One anonymous donor has already contributed $750,000.
To date, no funding has come from government agencies or major biotech companies. Freed says broader support is essential to move forward quickly.
“We got to this point all on our own, and now we have a very promising treatment and the beginnings of patient results, but we need help for the next leg of the journey,” she said, noting that naming rights for the treatment are being offered to major donors. “It’s truly a way to honor a person’s name forever.”
Freed also emphasized that rare disease research often unlocks insights into far more common neurological conditions.
“Just because something is rare does not make it meaningless,” she said. “This is how you gain breakthroughs for diseases that affect millions.”
While clinical trials typically span six to ten years, Freed hopes additional children could begin receiving treatment as early as March 2026.
“Gene therapy is here,” she told families at last year’s symposium. “Our kids can be saved. Rare diseases work hard, but we work harder.”
Anyone interested in being part of the solution for SLC6A1 and participating in groundbreaking gene therapy science can get involved with SLC6A1 Connect. Contact Kim Fry at kfry@slc6a1connect.org to find out how you can help.
About SLC6A1 Connect
SLC6A1 Connect is a 501(c)3 nonprofit and parent-led patient advocacy organization dedicated to improving the lives of children and families affected by SLC6A1-related disorders. Often deemed “too rare to care,” this genetic mutation is a rare neurological condition that causes epilepsy, movement and speech disorders, intellectual disability, and a wide range of behavioral and psychiatric challenges. The nonprofit raises awareness and funds millions in pioneering scientific research so that every person with SLC6A1 can access effective treatments and, ultimately, a cure. Pursuing a cure for SLC6A1 is not only a scientific breakthrough for the world but will also lead to deeper understanding of adjacent illnesses that share similarities in genetic defects, such as Autism, Parkison’s, and ALS, which affect millions of people in the U.S. and beyond. Currently, SLC6A1 involves more than 300 families around the world.
