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.
Join Us in Making a Difference!
Epilepsy is a major health issue, affecting 3.4 million people in the U.S. and 65 million worldwide. Did you know that 1 in 10 people will have a seizure at some point in their life, and 1 in 26 will be diagnosed with epilepsy? Right now, there’s no cure for epilepsy, and many people are working hard to live seizure-free.
We’ve created a team in the Seize the Day Warrior Walk to support Epilepsy Alliance Louisiana (EAL) and those impacted by this condition, and I need your help. EAL has been a pillar of support and hope for individuals and families across Louisiana, offering essential services, education, and advocacy. The Seize the Day Warrior Walk is a crucial event to raise awareness and support for those affected.
Be a Hero! Please support our team by making a donation today. Every bit of support, big or small, moves us one step closer to raising awareness, providing crucial resources, and lighting the way for those affected by epilepsy. Together, we can make a real difference in our community. Your support truly means the world to me and our team!
