STXBP1-Related Disorders Patient Stories
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Jaxson’s Story: Using Telemedicine to Reach Children With Rare Genetic Epilepsies
Telehealth has allowed Jaxson, 3, and his family to stay connected with the Epilepsy Neurogenetics Initiative (ENGIN) from the comfort of their home during the COVID-19 pandemic.
Lucy’s Story: Going All In to Cure a Rare Disease
Genetic testing helped Lucy's family identify a potential treatment for her seizures, which enabled her family and the ENGIN team to tackle her rare disease.