8-Year-Old with Rare Disease Is First in the World to Receive Treatment (Exclusive)

NEED TO KNOW

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