Adeline Claire

Our youngest daughter, Adeline, was born seemingly healthy and happy in September of 2023. Her birth and progression began normally and for 4 wonderful months we had no concerns beyond what parents typically feel with a newborn baby. That dramatically changed on Christmas Eve of 2023. On that day, not long after she awoke from a midday nap, Adeline experienced her first seizure. As is typical with Dravet, her first one fell into the category of focal hemiclonic seizures. One half of her body was rythmically jerking but she remained alert. This seizure went on for roughly 18 minutes and was her first encounter with emergency medical responders. She was transported to the Children’s Hospital in Baton Rouge where she underwent many tests typically performed on pediatric patients who experience seizures. At the end of her stay with no abnormal readings on her EEG, we were discharged with a hopeful outlook that this was “likely never going to happen again”.

Only a couple of weeks later Adeline had another seizure. Each time we would perform more and more tests until her first severe seizure that followed her first week at daycare. At the end of January she had a seizure that for the first time did not stop on its own or with help from the at home rescue medications. It is quite hard to relive that night in our memories. The difficulty breathing, her cognitive absence, loss of motor function, the ER teams rushing to pull her out of the seizure that had gripped her for over an hour, and ultimately watching her be sedated and hooked to a ventilator. We watched our little angel require help breathing from a machine by the side of her hospital bed for the next 3 days. While in the Pediatric Intensive Care Unit, her neurologist sent off for a genetic test in hopes of finding out what was causing her frequent, status seizures. Up to this point the medications that we had introduced were not helping. Approximately 2 weeks later, upon receipt of the results, we received the call that turned our world upside down. Adeline had one amino acid substitution in one gene in her DNA, the SCN1A gene. The gene mutation was “de novo” meaning randomly mutated and not inherited. Given her seizure types, frequency, resistance to medication, and now the gene mutation the diagnosis was obvious to her neurologist. Adeline was diagnosed with Dravet Syndrome, a catastrophic form of epilepsy, and she would have it forever.

At the time of writing this bio, Adeline has suffered 16 convulsive seizures ranging from 4 minutes to over an hour (which does not include any that may not be visible to an untrained eye), several ambulance rides, and 3 intubations. She has spent more time in a hospital bed in just 6 months than most people will in their entire lifetime. She has been on many different anti seizure medications and still not achieved seizure freedom. She likely never will. Adeline currently takes 3 medications twice a day and has 3 different bridge or rescue medications. We are fortunate that Adeline has an incredible neurologist / pediatric epileptologist at her side as well as a fantastic therapy team that help her with physical, occupational, and speech therapy every week and to this point has progressed normally aside from the struggles of the seizures. The things that we often overlook can be big seizure triggers for her, things like: hot temperatures, a warm bath, loud noises, bright lights, commotion, vaccines, illness, etc. Adeline sleeps with an array of cameras and devices that keep track of her vitals and watch for nocturnal seizures.

Our family lives in constant fear of the next seizure and the unknowns of the future. What if the next one doesn’t stop? What if the next one takes a part of her that she cannot get back? When will the regression begin? What will her life look like as she grows up? How much of it will she get to see? Despite all that she faces, you would be hard pressed to find a time when Adeline does not have a big smile on her face. She is a happy, incredibly strong little girl who has a ton of support behind her. We know she will find a way to beat this syndrome!

Click below to learn more about Dravet Sydrome! Building awareness and spreading the message is the best way to find a cure not just for our Adeline, but for all of those living with Dravet!