Vibrant, captivating, resilient. That’s our Zoe. She wakes up each morning with a big smile, loves reading books and dancing to music, and lights up watching dogs enjoy their treats. She gives the best hugs and her giggles are infectious.
At five months old, Zoe had a long seizure after a warm bath. Paramedics rushed her to the emergency room where every test came back negative. We left the hospital after three traumatic days, hoping we’d never return. But a second seizure led to genetic testing that confirmed an SCN1A gene mutation and a Dravet syndrome diagnosis – a rare disease with a devastating combination of difficult-to-suppress seizures and lifelong cognitive and mobility challenges. We were heartbroken, and back at the hospital more times in the first year of Zoe’s life than most see in a lifetime. That Thanksgiving, instead of gathering with family to give thanks, we spent the night at the hospital after Zoe had an hour-long seizure that required multiple rounds of intervention to stop.
Zoe surpassed early developmental milestones with ease, but her development eventually slowed down to the point of significant delay. At four years old, Zoe is still working on walking safely with foot braces, self-feeding, and learning to talk. Her cognitive and motor skills are significantly behind her peers and she receives physical, occupational, and speech therapy weekly. But Zoe is undeterred by her challenges and has made meaningful progress this year. She actively engages with her therapies and even participates in a toddler soccer class – go Fox Cubs!
A year ago, Zoe participated in a groundbreaking clinical trial testing the safety of a gene therapy delivered directly to her brain. So far, this treatment appears safe, and we remain hopeful that continued breakthroughs in this field will one day change the course of this disease.
For Zoe, Dravet is just part of her life. But for us, it changed everything. For months after the diagnosis, we didn’t leave our San Francisco neighborhood, fearing that we’d need immediate access to a pediatric ICU and epilepsy specialists if Zoe had another severe seizure. Finding the right medication balance means constantly weighing seizure control against her quality of life. Zoe takes a cocktail of anti-seizure medications three times a day, each with meaningful side effects. Fewer seizures have sometimes come at the cost of heavy sedation, leaving her unable to hold her head up and missing her usual spark of curiosity and joy. Periods of undermedication have resulted in frequent seizures, leaving her upset and exhausted. Activities that most families take for granted can be challenging or impossible. With heat and innocuous childhood illnesses triggering Zoe’s seizures, we’ve turned down invitations to birthday celebrations, family reunions, and trips with friends. We’ve grieved the life that we thought we would have as a family. And while we are blessed with supportive and loving family and friends from afar, the isolation and constant vigilance takes a heavy toll.
Zoe has remarkable resilience that inspires us and gives us hope. We are grateful for the work of the Dravet Syndrome Foundation, connecting families impacted by this devastating disease, providing resources to navigate life with Dravet, and, most importantly, advocating and funding research for a cure. Progress today means a better life for kids like Zoe now and tomorrow. And as our family has already experienced, every improvement in diagnosis and treatment helps. If you are moved and able to support Zoe and so many others, we gratefully welcome you to donate to the Dravet Syndrome Foundation.
