Short Wave A Fragile X Treatment May Be On The Horizon
May 6, 2021
Jon Hamilton, an NPR neuroscience reporter with a decade of experience covering Fragile X, joins to share a family's inspiring journey. Katie Clapp and Michael Tranfaglia founded the Fraxa Research Foundation after their son Andy was diagnosed with the disorder. They discuss the challenges of clinical trials and the emotional drive behind their advocacy. Recent findings highlight a promising treatment that has shown success in early studies, fueling hope for families affected by this genetic condition.
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Meeting Andy
- Jon Hamilton met Andy Trenfalia, a teenager with Fragile X, in 2008.
- Andy struggled with language, anxiety, seizures, and repetitive behaviors.
The Fraxa Foundation
- Andy's parents, Michael and Katie, established the Fraxa Research Foundation in 1994.
- They aimed to fund research for a Fragile X treatment or cure.
Fragile X's Impact
- Mark Baer's research revealed that Fragile X disrupts brain connection regulation.
- He likened it to a car missing brakes, where even slight acceleration causes issues.