8-Year-Old Receives Exclusive Treatment for Unnamed Rare Disease, Becomes First in the World

An eight-year-old boy has become the first person to undergo a pioneering treatment for an extremely rare genetic disorder. Maxwell Freed was born with a condition so uncommon that it lacked an official name, later identified as SLC6A1. His mother, Amber Freed, refused to accept that there was no cure and dedicated years to finding a solution.

SLC6A1 is a neurodevelopmental disorder that can cause severe epilepsy, speech and movement difficulties, and intellectual disabilities. Maxwell received his diagnosis in 2018, roughly a year after his birth alongside his twin sister Riley, following two years of IVF treatment. From that moment, Amber devoted herself entirely to discovering a viable therapy for her son.

After years of research, collaboration with scientists, and testing the treatment in genetically-engineered mice and pigs, the therapy was approved by the FDA in June. Freed recalls presenting her evidence to the agency, emphasizing that the treatment offered the only hope for affected children, and inquiring about expanding it to others if it succeeded with Maxwell. The FDA gave their approval.

In September, Maxwell became the first patient to receive the therapy at Nationwide Childrens Hospital. The procedure is a single administration completed within two hours. Doctors, researchers, and Maxwells mother celebrated in the hospital with music and dance, marking a historic moment in medical treatment for rare genetic disorders.

Maxwell is now undergoing rehabilitation, and early reports indicate promising improvements. His mother describes him as a lively and charming boy with a love for dancing, singing, and K-Pop, a passion he shares with his twin sister. Doctors highlight his resilience and potential, noting that the treatment turned the switch on in his brain at eight years old, with ongoing recovery depending on his neurological plasticity.

Amber Freeds dedication exemplifies a remarkable parental fight to bring hope to children facing rare diseases. Experts involved in the treatment emphasize Maxwells bravery as the first recipient, noting the unique risks and significance of this groundbreaking therapy.

Author: Grace Ellison