SCN2A-related seizures that began at birth in 2000 have robbed sweet Alex of the ability to enjoy things most of us take for granted every day. As a toddler he enjoyed walking (although wobbly), eating (messy!), babbling (his own language), laughing, and smiling. A lifetime of seizures caused by a rare variant (S1780I) in his SCN2A gene has left him struggling to communicate, eating only by G-tube, unable to stand, and without his sunny smile or infectious laugh. Since 2012 (puberty and long hospitalization for status epilepticus), when he was coincidentally diagnosed with an SCN2A-related disorder, Alex has had seizures nearly every day. Yet, he thrives most days....
