Today’s Guest Blog Post comes from Joy Segovia. Joy is a freelance science and copy writer based in Oregon. She studied neuroscience and anthropology at Bowdoin College and spent over ten years working in behavioral health and educational settings prior to ditching the commute to homeschool her children and care for her youngest daughter, Adelina, who has Dravet syndrome. She is a science and education enthusiast who revels in adventures with her children, loathes being indoors, loves rugby and basketball, and plays her cello as often as she can. Joy has long been a fierce advocate for kids in need, and her daughter’s diagnosis has magnified that.

March 11, 2018, I proudly brought our healthy baby girl to a well-child check.  As third time parents, my husband and I had conquered many of the first-time parent fears. Adelina was beautiful, big, cheerful, and meeting all her milestones. On March 12, 2018, our lives abruptly and drastically changed. I laid Adelina down to change her diaper, and her first seizure began. I watched, feeling more helpless, confused, and afraid than I ever had, for about twenty minutes. That night and many nights since then, I stared at my baby all night, watching her every breath and afraid to take my eyes off her in case the convulsions began again. A few weeks later, after it happened again, an ER doctor looked me in the eye and told me that we needed to be admitted to the nearest children’s hospital. He said that if Adelina were his child, “that’s where he’d want her to be.” We hoped for the best, that perhaps the long seizures would be contained to a terrifying, yet short-lived season of Adelina’s infancy in which she experienced a couple of long, febrile seizures, and then life would go back to normal.

After a few more seizures with status epilepticus, Adelina was diagnosed with a novel SCN1A mutation. We desperately clung to the hope that it wasn’t Dravet syndrome. Instead, time brought more seizures that would not stop. As soon as we began to anticipate that seizures would happen every three or four weeks, they stopped happening monthly. We let our guard down a bit, cautiously—or more honestly, anxiously—optimistic. Just as we had begun to hope that maybe they were gone for good, seizures bombarded their way back into our lives, unprovoked and unanticipated, after almost six- months seizure-free.

Monthly status epilepticus became our norm again. We’d grown accustomed to watching for and responding to tonic-clonic seizures with status epilepticus and to the seizures continuing well after the administration of rescue medications. Then came a half-hour long atypical absence during which my daughter was unconscious and completely limp. In the month prior to Adelina’s official Dravet syndrome diagnosis, she rapidly increased from no quick, daily seizures at all to having over fifty myoclonic-astatic seizures daily. Over the past seven months, we’ve experienced for the first time pneumonia caused by aspirating vomit during a seizure, nocturnal seizures, and status epilepticus that wasn’t quickly and sustainably stopped with medical intervention at the hospital.

We have gone up to six months between ambulance rides due to status epilepticus, and we’ve gone as little as three days between ambulance rides. Once, we even called 9-1-1 three times in the six hours leading up to my daughter’s first PICU admission. Each time we think we know what to expect, Dravet reminds us that it will change its presentation without warning, and that we should be prepared to handle it however and whenever the seizures strike.

Parenthood teaches people to expect the unexpected. Parenting a child with Dravet syndrome magnifies that immensely. Each step of my family’s Dravet journey brings new twists. The surprises are often scary. Sometimes, the surprises are good ones, like Adelina using a new word, joining peers to dance in a ballet class when she is normally apprehensive about leaving my side, demonstrating astute comprehension, or being really good at forward rolls at tumbling class. We’ve learned to embrace the good and to live life on our toes. That way the worrisome moments that sometimes turn into scary hours and dreadful days are less likely to dominate the rest of our days or to knock us down as long and hard as they would otherwise.

Amidst the chaos and the normative of change, we love our little girl fiercely and adapt to what we do know. We have bid adieu to the idea of predictability and have accepted that we must instead simplify the hard days through diligent preparation. We stay in close communication with Adelina’s epileptologist. We review and proactively tackle risks that often come with Dravet syndrome. We try to identify triggers and remove or mitigate them as much as possible, knowing that some seizures will happen, anyway. We remain vigilantly prepared for status epilepticus. We make contingency childcare plans for Adelina’s siblings in case of emergency. We both anticipate and review situations to see if we need to update our plans. Ultimately, in our inability to predict the future, we must live and love fully, embracing each moment while assiduously awaiting the next curve ball.