28 Jun Ellie’s Superhero Story
Ellie is a SLC13A5 Superhero. Here are a few fun facts Ellie’s parents shared with us!
- Name: Ellie Prestine
- Age: 5
- Homestate: Pennyslvania
- She is obsessed with Mickey Mouse and the gang!
- She loves to be in any type of water.
- She is a jokester and likes to make people laugh!
- Music is her jam, literally and figuratively, and it is the only thing that keeps her attention.
- Although her verbal skills are limited, she is super bossy and will not take no for an answer.
A Love Letter from Ellie’s Family
Ellie’s Medical Journey
Ellie’s medical journey began at the start of labor. Each time there was a contraction, her heart rate would drop. The doctor said there was a 30 minute time frame between having Ellie naturally vs. having an emergency C-section, so the pushing commenced. It was apparent there was something wrong when the doctor decided she needed to be vacuumed out. We later learned the cord was wrapped 3 times around her neck.
About 15 hours after she was born, I was having trouble breastfeeding her. A nurse came in to check on us and asked me if I noticed her going “dusky”. I said no, but I was having difficulty feeding her. She said that she would be right back. When she came back, she said they wanted to take her to the nursery to monitor her. The next morning, we woke up to a doctor saying that Ellie was having multiple seizures.
From there, we stayed in the NICU for about a week and a half. They did not have the expertise to manage the level and intensity of seizure activity, so we had Ellie moved to the top NICU near our area. The team of doctors really rallied behind us. They found residual blood from the vacuum birth on her MRI and attributed the seizures to that. We left the hospital with seizures under control but that only lasted for about a week. After that, we were in and out of the PICU for about another month and half.
After countless tests and our 4th hospitalization, the neurology team decided to do the epilepsy gene panel. We received the SLC13A5 diagnosis a month later.
The last 5 years of seizure management has included at least 30 911 calls, 2 life or death situations, trial and error with 10 medication combinations, and countless hospitalizations to reach the point where we are almost a year and half without a seizure. We still have hope that a real cure, not just some seizure management, for SLC13A5 will be found one day soon.