Publications

The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families,researchers, clinicians, and regulators

Feb 2, 2018  Journal of Neurodevelopmental Disorders 

Comorbidities of Rare Epilepsies: Results from the Rare Epilepsy Network

Oct 2, 2018  The Journal of Pediatrics

This is a story of my son Beckett and his diagnostic odyssey. This is the real story behind finding a diagnosis to an Ultra Rare Disease, coping with the life of raising a child with special needs and dealing with all that entails it. From financial strain, marital problems, siblings and more. There are 7000 rare diseases. 1 in 10 Americans have a rare disease. 95% percent of those do not have an FDA approved treatment. This is my quest to find treatments for my son and ones like him to have a chance at a better quality of life.