What rare disease does Maxwell have?

Maxwell has a rare neurodevelopmental disease known as SLC6A1, which doctors had not formally named.

Who developed the treatment for Maxwell's disease?

Maxwell's mother, Amber Freed, led the development and fundraising efforts for the experimental gene therapy treatment.

Is Maxwell's treatment considered a cure?

Doctors are optimistic about lasting positive effects but state it is too soon to call the treatment a cure.

Home / Health / Boy, 8, Receives World's First Treatment for Rare Disease

Boy, 8, Receives World's First Treatment for Rare Disease

6 Dec

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Summary

An 8-year-old boy is the first globally to receive treatment for a rare, unnamed disease.
His mother tirelessly worked for years to develop and fund the experimental gene therapy.
The groundbreaking FDA-approved treatment offers hope for lasting positive effects.

Boy, 8, Receives World's First Treatment for Rare Disease

An 8-year-old boy named Maxwell has made medical history as the first person globally to receive treatment for a rare neurodevelopmental condition, SLC6A1. This disease, which can cause epilepsy, speech, and movement disorders, had previously gone unnamed.

Maxwell's mother, Amber Freed, spearheaded the effort to find a cure after his diagnosis in 2018. Despite initial discouragement, she committed years to fundraising and working with scientists to develop an experimental gene therapy. The COVID-19 pandemic caused significant delays, but perseverance led to the treatment's FDA approval on June 25, 2025.

In September 2025, Maxwell received the two-hour treatment, a pivotal moment celebrated by his family and medical team. While doctors caution it's too early to declare a cure, they are optimistic about lasting positive effects. Maxwell is now undergoing rehabilitation, with his progress impressing his doctors and offering hope for his future.