The Story of Max and SCN8A

I want to tell you about a boy I dream of meeting—a boy who is about 10 years old and full of life. Instead of spending countless hours in hospitals, he spends his days playing outside with his brother, Zac, and their dog, Buster. Instead of enduring the endless poking and prodding of needles and machines, he earns his scrapes and bruises climbing trees and running through playgrounds. Instead of being fed blenderized meals through a G/J tube, he savors pizza, ice cream, cookies, and all the foods kids love. This boy runs around the house playing tag with his brother, climbs trees that make his mom nervous, and enjoys video games, silly jokes, and the drums. He laughs with Sonic, cries when bedtime comes too soon, and lights up when his mom and dad take him and his brother to the arcade. He doesn’t need weekly blood tests to monitor the damage from 10+ medications, nor does he have a roster of over 15 specialists tracking his case weekly. And he’s never been hospitalized 3 to 5 times a year.

SCN8A has kept this boy away from us. For the first three years of his life, he suffered from infantile spasms. Now, he battles daily partial focal seizures. Our son, Max, is a prisoner to this mutation, and we pray every day for his release. He’s waiting for his mom and dad to save him from this dark prison, but we don’t have the answers yet. Maybe one day, someone will help us find those answers. Until then, we will continue to fight—to save our heart, our soul, our Max.

Like many first-time parents, we had no idea what we were doing or what to expect. All we knew was that we loved this tiny human with all our hearts. In the beginning, when Max was just two months old, our biggest concerns were a minor fever and some acid reflux. But life had bigger plans. During an unrelated appointment, a neurologist noticed something and asked us to schedule an EEG. We thought nothing of it at the time, but those five little words—“Your son has infantile spasms”—changed our lives forever. We were pulled into a small room, surrounded by six doctors, and told the news. Max was immediately admitted to the hospital for a barrage of tests: a 24-hour EEG, MRI, blood work, genetic testing, and two spinal taps (one of which had to be repeated due to an error). Hardcore medications were administered immediately. It was the longest week of my life. Still, it wasn’t until seven months later that we learned Max’s condition was tied to the SCN8A mutation. In the interim, he was prescribed three medications known to worsen outcomes for individuals with his specific mutation.

To say the past 10 years have been challenging is an understatement. The journey to give Max the quality of life he deserves has been paved with countless sleepless nights, relentless research, and heartbreaking decisions. Because of the rarity of his disease, doctors and nurses didn’t always have answers for us. We relied heavily on trial and error and the guidance of support groups. Each decision carried immense weight because, if we got it wrong, Max was the one who suffered. This is why our mission is so important: to ensure no other family navigating this journey feels alone, lost, or unsure of their next steps. Together, we can create a future where families like ours have the support and resources they need to fight back against SCN8A.