Eliam’s Story by Kelsey Martinez

August 3rd, 2021, was the day our lives were turned upside down. I was two days away from turning eight months old and had just started daycare two weeks prior to this day. The day started out just like every other, but dad had the day off and decided to keep me home with him. I was acting my normal self when all of a sudden, I experienced my first seizure; it was short, but dad was terrified. The ambulance rushed dad and me over to the hospital while mom met us there; she was at work. I had a low-grade temperature of about 99.1; they said it was barely even a fever, drew some blood, and sent us home.

We carried on with our lives, assuming it was a one-time thing. Exactly 41 days from August 3rd, I experienced my second seizure. This one was different; it lasted a little over 70 minutes. Doctors didn’t know what to do either. They had never experienced anything like this before. My oxygen kept dropping, and I was intubated and flown to the nearest children’s hospital. Mom and dad were terrified and had to drive and meet me there because they weren’t allowed on the plane.

Upon arrival, they kept me intubated while they ran more tests; central line for access, spinal lumbar puncture to check for meningitis, multiple EEGs, MRI’s, CAT scans, but everything kept coming back clear. It was a long three-day stay in the PICU, and it was one of the scariest days for mom and dad because my oxygen and heart rate kept dropping, and I couldn’t wake up after my intubation. The neurologist ruled it as febrile again and sent me home on seizure medication.

It didn’t make sense to mom; she read up on febrile, but how was it possible that my seizure had lasted over an hour and only on one side of my body? Mom knew in her heart this was not febrile, so she took me to my pediatrician and asked to see a different neurologist. We were able to see a different neurologist and we’re so thankful for her. Mom described the seizure and how it only seemed to impact one side of my body, the low-grade temperature again, and the fact that it was over an hour long. The doctor immediately knew what it was but didn’t want to scare us until the genetic testing she had requested came back. Those six weeks we waited were the longest; I experienced about ten more seizures with three lasting over an hour.

Mom got the call after one of my hour-long seizures. It was indeed the SCN1A gene mutation that was suspected. It was a tough night for mom and dad as they had to pass down this information to the rest of our family. Life after Dravet syndrome hasn’t been easy. It’s come with specialist after specialist, having to learn to administer emergency rectal medication, carrying it with us EVERYWHERE we go, learning about SUDEP, and constantly making sure I’m breathing at night, especially after a seizure. Dravet syndrome is a rare, drug-resistant form of epilepsy which explains why paramedics and doctors struggled with stopping my hour-long seizures. I’ve also started Early Childhood Intervention because Dravet causes a lot of developmental delays. I don’t know what life looks like for me in the future, but whatever the outcome is, mom, dad, and my family love me unconditionally

Guest post by Kelsey Martinez, Rare Mama to Eliam