Reilly is an 11-year-old boy from Vermont. He was born healthy in 2006, but by his 2-year-old well-child visit, he was not talking and seemed unsteady. Reilly and his parents were referred to a neurologist and a few weeks later Reilly had a seizure, marking the beginning of a long journey.
When the first round of specialists had no answers, Reilly’s family traveled 4.5 hours from their home to Boston Children's Hospital (BCH). Hundreds of tests indicated that everything was normal, yet Reilly was still declining. In April of 2012, the team at BCH enrolled Reilly in a genome sequencing research study.