NAME: Eleanor (Ellie) Rose
CURRENT AGE: 14
HOME TOWN & STATE: Honesdale, PA
DIAGNOSIS DATE: Ellie was diagnosed with epilepsy at 2 years old and received the SLC6A1 diagnosis at 12 through genetic testing- due to refractory epilepsy.
PARENTS: Shawn and Christina
SIBLINGS: Dylan, Charlotte, Robert, and Patrick
What it felt like when we learned our child has SLC6A1? I felt a range of emotions. First I felt “we finally have an answer” but then the realization of what we were up against fully set in. To learn that this gene is autosomal dominant meant that if Ellie ever has children there is a 50% chance she would pass this along- that currently there is no treatment and that all we can offer are supportive measures. As a healthcare provider my job is to help people so it is overwhelming and frustrating to think that I cannot help my own child.
How did you know something was wrong? Ellie started seizing at the age of 9 months old. The absence seizures became much more frequent at the age of 2 when she was diagnosed with Childhood Absence Epilepsy. We were told she would probably outgrow the seizures with the onset of puberty. Unfortunately, puberty made things much, much worse. Ellie started having new seizure types including tonic clonic, focal, myoclonic, astatic, and dacrystic seizures. This is what led us to genetic testing.
The hardest part of being an SLC6A1 family? The fear that every member of my family carries. When we hear a thump, everyone runs because we assume that Ellie has fallen due to yet another seizure. When the school is calling, I hold my breath worried that something happened to her and question why I ever allowed her to leave my sight. The very worst of it all is when she cries that she “wants the seizures to stop”….and I toss and turn all night wondering how I can outlive her to ensure that she is safe and loved her entire life.
What are your dreams for Ellie? I just want my sweet girl to be healthy and happy.
Why would you like people to donate to SLC6A1 Connect? Your donations will lead to treatment for Ellie and other children like her that fight this awful monster day in and out. Thank you, from the bottom of my heart, for every donation you’ve made so far.