ETTA JO’S STORY

As told by her Mom, Rylee:

My little Etta Jo entered the world of seizures & epilepsy when she was 5 months old. However, they didn’t present normally, as she has something called Infantile Spasms – the most severe form of Pediatric Epilepsy. Her eyes would roll back & both arms & legs shot out quickly, and after about 1-2 seconds she’d be right back to normal. Then a few seconds later, it would happen again. Each seizure itself only lasted a second or two, but it’d go on for around 10 mins & within that time frame she’d have probably 30+ seizures.


At the start of her diagnosis, this was happening multiple times a day, causing her to have 100+ seizures a day. She failed 3 different anti-seizure medications within a little over one month of diagnosis. High dose steroids, vigabatrin, and topiramate. They all came with their side effects, as well as caused her to develop a movement disorder, and toxicity to one. We tried a combination of two meds & finally saw seizure freedom!


She has theoretically been “seizure free” for about a year now, although we believe she’s had a couple spasms in the mix, but couldn’t capture them on an EEG. We did genetic testing to try & find the cause for Etta’s Infantile Spasms & Epilepsy, and found out she has an Ultra Rare genetic mutation, called IRF-2BPL. There are about 40 people with this in the whole world. This is a neurodegenerative disorder, and sometime in her early childhood she will have neurodevelopmental regression, including things such as loss of the ability to walk, talk, eat, etc. Seizures, ataxia, dystonic movements, etc. are all also part of IRF-2BPL. It saddens me to be a part of this medical community, but I am overly grateful for all the mothers I have met & friendships I have made because of it.
But, Epilepsy sucks.

Kind words you would like to share with a parent or someone newly diagnosed:
“Ask people for help. Whether it’s someone to bring you a meal, let your dog out while you’re at the hospital, or take your steroid raging baby for a walk so you can take a nap. At the time my daughter was diagnosed I was living across the country from my family, trying to do it all on my own. Since then, we have moved back home to have help. I know you feel like a burden, or don’t want to bother others, but it really is impossible to tackle this medical world by yourself. So seriously, ask people for help, and you will be lifted.”

Connect with Rylee:
Email: Ryleeelliott0512@gmail.com 
Instagram: @rychi.05
FB: Rylee Elliott (Rylee Childs Elliott)