We are excited to share a powerful new People Magazine feature highlighting our ULF Board Member Amber Freed and her son Maxwell, and the extraordinary journey that led to a groundbreaking milestone in rare disease history.
In the article, Amber’s son Maxwell is described as having a neurodevelopmental condition known as SLC6A1, a rare genetic disorder so uncommon it didn’t even have a formal name when he was diagnosed in 2018. Children with SLC6A1 can experience seizures, movement and speech difficulties, and intellectual disability.
Determined to find a way to help her son, Amber dedicated years to learning everything she could about the condition, raising funds, and partnering with scientists. After many challenges — including delays due to the COVID-19 pandemic — her persistence paid off. In September 2025, Maxwell became the first person in the world to receive a gene therapy treatment for SLC6A1, following FDA approval earlier that summer.
The moment was both emotional and celebratory, with doctors, researchers, and family members sharing in the joy of this unprecedented step forward. Maxwell is now in rehabilitation and is already showing encouraging signs of progress.
Amber’s story is one of hope, advocacy, and tenacity — a powerful example of what can happen when families, researchers, and the rare disease community come together to push the boundaries of medicine.
Read the full People Magazine article below to learn more about Maxwell’s journey and the road that brought this historic treatment to life.