Our lives shattered on July 10th, 2023. That day, our perfectly healthy seven-month-old baby girl was rushed to the hospital for a complex seizure - one that was so difficult to control, doctors had to intubate her to get it to stop. What we hoped was a one time febrile seizure instead became a recurring nightmare. Genetic testing confirmed a SCN1A mutation, and Mila was diagnosed with Dravet syndrome in early November 2023, just weeks before her first birthday. In those dark days post diagnosis, it felt like all our dreams for our family were over.
Mila spent many weeks in the hospital during her first year of life. She has been intubated twice and has had seizures that have lasted close to an hour. Several times, we have stood by helplessly, fearing for her life, as doctors struggled to control her seizures. Ambulance rides became a regular occurrence and we always had a hospital “go bag” ready by the door.
Mila is now on three daily medications to manage her seizures and was able to partake in a Phase 1 gene trial a year ago. Despite this, Mila still has small seizures every single day. Mila has fallen behind on milestones, but we believe in her and are doing everything in our power to help her. She attends multiple therapies every week including physical, occupational, and speech therapy.
Mila learned to walk when she was two, and uses braces to help steady herself. Her walking has gotten stronger and although movement can be tough due to myoclonic seizures, she is generally improving. She has regressed significantly where it comes to speech, and is now essentially nonverbal. This is incredibly hard for her and for us, and leaves everyone feeling very frustrated. However, she is clearly wanting to communicate and has started using an AAC device.
2026 was a big year for Mila. She was able to start school and loves it. With the help of an aid and a nurse, she is able to join her peers at a public school in the city, where she’s learning how to be in a classroom, socialize with new friends and how to deal with some of her newfound emotions. We weren’t sure if Mila would get to go to school when her seizures were at their worst, so bundling her off every morning and watching her walk into her classroom herself is an indescribable feeling.
Mila’s days are filled with love and joy. However, Dravet is a constant source of fear and anxiety for our family. Because we never know when a seizure will present, we are always on guard. Every day requires thorough planning and constant attention to prevent seizures. Every night requires specialized monitoring devices to protect against Sudden Unexplained Death in Epilepsy (SUDEP), a condition that disproportionately impacts those living with Dravet. At every turn we must manage the opportunities to see Mila explore and grow, with the very real fear of a seizure episode.
As a family we face the constraints brought on by medical expenses, as well as the career implications of being full time caretakers to someone with such involved and complex medical needs. The trauma and the psychological burdens of living with this syndrome are both very current and lifelong: we spend a lot of time reflecting on anticipatory grief and how we can live as best we can in the here and now.
Mila continues to be absolutely obsessed with dogs, Ms Rachel, chocolate ice cream and firetrucks. She is also her baby brother’s biggest fan, even if she sometimes has to smack him to keep him away from her stuff. Mila remains loving, fiercely independent (bordering on contrarian like her parents), curious and brave.
We are so proud of Mila and everything she has accomplished. We live in that very strange space between hope and fear - remaining positive about the research breakthroughs occurring while managing the risks the best we can. We will never stop fighting for Mila - and all of those affected by this devastating condition. It is possible that we will see a cure for Dravet in our Mila’s lifetime - but that possibility will only become a reality with support from those who love and believe in children like Mila.
Thank you for the continued support of our brave little girl.
