At 4 months of age, Freya had her first two seizures. She was diagnosed with an SCN1A de novo gene mutation and Dravet Syndrome shortly after. Dravet Syndrome is a rare (1:15,700) developmental and epileptic encephalopathy characterized by frequent and difficult to treat seizures and significant developmental delays. All of Freya’s seizures thus far have been status, ranging from 30-50 minutes in length. With this comes an increased risk of SUDEP (Sudden Unexpected Death in Epilepsy) and permanent brain damage. Dravet is frustrating in its unpredictability. Seizure type and frequency can change at any time, and most developmental and motor/balance/gait issues begin to show and progress after the first year of life. As a spectrum disease, doctors cannot predict exactly how severe Freya’s needs will be in the future.
Freya takes medication 3+ times a day (up to 8x a day when we are battling an additional concern/risk) to keep seizures at bay. She is also on the medical ketogenic diet for epilepsy, where each bite of food is treated as her medication and meals are carefully weighed to the tenth of a gram in an exact ratio. We have an extensive 6-step rescue medication protocol to try to halt a seizure in its tracks, all typically administered by us before the ambulance arrives. During seizures, she also requires the use of suction and oxygen due to her stats dropping dangerously low (the high volume of rescue drugs required impacts breathing).
Freya has been through so much in her young life, and has had more than her fair share of ambulance rides, hospital admissions, IOs, blood draws, EEGs, EKGs, MRI, therapy appointments, etc. We are on diligent seizure watch literally every minute of every day (even during the night). So much of her life is restricted from that of a “typical” child. Her therapists and nurses have become our only visitors/friends. Our daily schedule revolves around strict medication and nap/bed times (often including blood glucose/ketone finger pricks and temperature spot checks). Meal and snack times must be well planned and closely monitored for accuracy. Activities are chosen with careful consideration of possible seizure triggers (i.e. heat, over-excitement, flashing lights, over-tiredness, etc.), risk of disease transmission (illness and inflammation lowers the seizure threshold), general seizure safety (i.e. injury from falling, secondary drowning while in water, etc.), and proximity to our rescue supplies and a hospital. It’s a lot to handle for a toddler, but it’s all she’s ever known. Yet Freya remains the sweetest and most joyful little girl. We are completely biased, but we take immense pride in how amazing she always is, through all of it!
We are getting super excited for her new service dog to arrive sometime in Fall 2025! We hope that this helps give Freya some independence as she gets older (not to mention the peace it would bring to us as parents). Her specially trained medical alert dog can respond to a seizure, and potentially even pre-alert before a seizure begins. This would allow us to administer appropriate medications immediately to either halt a seizure or prevent one.
As parents, we are devoting our lives to ensuring that Freya stays safe, healthy, and happy, despite her diagnosis. As advocates, our goal is for Freya to grow up with the resources she needs to live her life to the fullest, and as close to "normal" as possible -- whatever that might look like for her. We hope that by providing education and spreading awareness, our community will welcome and support Freya (and others like her), no matter her differences. We also wholeheartedly believe that more awareness = more funding, and more funding = more research. We hold on to the hope that, in Freya's lifetime, amazing new research will lead to a cure! How epically life-changing would that be?!
We thank our family, friends, friends of friends, and community for their constant love and support. Words truly cannot describe our gratitude -- we couldn't do this without you. Freya is so lucky to have such an amazing village rallying behind her! ?