John was born on November 28, 2022. He spent his first ten months as a healthy and happy baby boy who loved watching his older sisters play around him. His life changed forever at 4:24 p.m. on September 27, 2023, when he had a 14-minute seizure on the floor of our family room. The paramedics came to our house and rushed him to a local emergency room, where he was stabilized and transferred to a larger hospital with a pediatric epilepsy unit 75 minutes away. After a one-night stay, he was discharged with the assurance that childhood seizures are far more common than most people think, and that it probably would not happen again.
Two weeks later, John had a 20-minute seizure. The paramedics again took him to the local ER, where he was again transferred to the larger hospital. He was prescribed an anti-seizure medicine, and we were given rescue meds we were told would arrest any future seizures, should they occur.
On November 3, 2023—our fifth wedding anniversary—John had an hour-long seizure, which did not break with the rescue meds from the hospital. The paramedics tried to give John their own, but had difficulty finding a vein, so they inserted a needle directly into his leg bone and administered two additional doses that way—all while John was convulsing. And all while John’s siblings looked on.
We now understand just how dangerous seizures of that length are, and that John is lucky to be alive. John was again transferred to the larger hospital, where he spent the better part of a week. During that admission, the nurses took a blood draw to see if a genetic test could help with a diagnosis.
Shortly before Christmas, we received the results. The answer was what we most feared—Dravet syndrome, an incurable genetic disease that begins with frequent prolonged seizures, and evolves to impact virtually every aspect of life, from cognition, to speech, to behavior, to fine and gross motor skills, to sleep.
It has now been three years since those initial seizures. John’s current status is summarized in the doctor’s note from his most recent neurology visit:
“3-year-old boy with SCN1A-related Dravet syndrome, global developmental delay, and hypotonia with ongoing poorly controlled generalized tonic-clonic seizures” whose “[c]ourse is additionally complicated by severe behavioral dysregulation with marked impulsivity, elopement/safety risk, aggression/biting, and need for near-constant 1:1 supervision.”
With all the hardships, we still recognize how fortunate we are. We have had the privilege to meet countless members of the unseen army of public servants who minister to children with disabilities. The New Canaan police officer who was the first responder to John’s hour-long seizure, who sat outside our house for hours after the ambulance left “just in case you need anything.” Another New Canaan police officer who beat the paramedics to our house, quickly gave John oxygen and first aid, and then immediately pivoted to playing with our other children once the ambulances arrived, so they would be distracted from John shaking on the floor. The New Canaan EMTs (all volunteer) and paramedics who have come to our home at all hours of the day and night to help John in his moments of greatest need. The special education teachers in the New Canaan Public Schools who, with a patience that would be impossible to believe unless you have witnessed it firsthand, help John acquire and keep skills that other children learn with ease. John’s caretakers at home, who minister to John with unimaginable love, empathy, and patience. And of course, John’s world-class neurologists, Dr. Sullivan at UCSF and Dr. Marsh at CHOP, who have given us what is unquestionably the best medical care on the planet, and the hope for a brighter future.
With a team like this, it occurs to us that John is among the most fortunate Dravet patients who has ever lived. And yet daily life remains a tremendous challenge—not only for John, but also for his family and caretakers. The Dravet Syndrome Foundation is working to change the course of this disease by directly funding groundbreaking research, raising awareness to stimulate further research by others, and offering assistance to families with financial need. The results speak for themselves. Today, the Dravet Syndrome Foundation is a model other rare disease communities endeavor to emulate. Along with its partners in the biotech community, the Foundation has helped bring life-changing treatments to the market, and has brought us—hopefully—within a year or so of widespread access to RNA- and DNA-based disease-modifying therapies that will address not only seizures, but all of the disease’s many comorbidities.
Of course, none of this life-changing work would be possible without money. We believe in the command that “from those to whom much is given, much is expected,” and we hope that you will join us in financially supporting the Foundation’s work.
