Tristan was born after a normal pregnancy in 2019. From the minute his parents saw him, they thought something looked a little off about his eyes. As none of the doctors or nurses mentioned anything, they took him home and assumed he was fine. At four months old, they started noticing some slight delays and got him into early-intervention therapies, assuming he would “catch up,” as many children do. After a year of multiple rounds of testing, they got the devastating diagnosis: a nano-rare KCNH1 genetic mutation characterized by epilepsy, profound intellectual disability, and severe speech and movement disorders. A month after Tristan was diagnosed, he had his first utterly terrifying seizure. Tristan can have seizures as a result of even the mildest illness. When he seizes, he completely stops breathing and it takes him 1-2 weeks to recover each time. The biggest impact of Tristan’s mutation is on his cognitive abilities. He can’t so much as point to something to show what he wants. His cognition was rated in the <.1 percentile with impairment so severe that many therapists have no clue how to help him.

His parents’ biggest dream is for their family to be free of the constant fear of seizures, for Tristan to be able to share what’s going on in his little head, and for him to be able to enjoy activities with his brothers rather than just watching them!