Lucy’s Story: Going All In to Cure a Rare Disease

“AS PAINFUL AS IT WAS TO FIND OUT ABOUT LUCY’S DIAGNOSIS, IT WAS HELPFUL TO KNOW ABOUT IT EARLY ON SO THAT WE COULD GET HER INTO EARLY INTERVENTION AND THERAPY AS QUICKLY AS POSSIBLE TO TRY AND COMBAT SOME OF THE GLOBAL DELAYS ASSOCIATED WITH THIS DISEASE.

Visit the Children’s Hospital of Pennsylvania website to read about Lucy’s story and the Prosser family’s commitment to research and fundraising efforts that will advance innovative treatments to give children with STXBP1 a better life.

Previous
Previous

Jaxson’s Story: Using Telemedicine to Reach Children With Rare Genetic Epilepsies

Next
Next

Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy