Move to Cure STXBP1 Disorders

Race Origins: Emma Rose and a 5K

The “Move To Cure” STXBP1 Disorders event has evolved from one of our very first fund raisers which was a 5K run in October 2017 in Ohio. It was organized especially for Emma by her mom, Jennifer. Here is Emma’s story.

My name is Emma Rose. I am currently 14 years old, cannot walk or talk, and continually struggle to gain complete, long-term control over my seizures. The past several years have been especially difficult with my family seeking a second opinion on seizure medications from a specialist in another state, to no avail, and a failed VNS surgery. I work hard and make advances developmentally when the seizures allow me the time, but sadly, can lose much of that hard won progress when my seizures are especially severe. It took many years to find a communication device that worked for me because I have a significant tremor and weakness in my right hand and limited fine motor control in my left. My top priority is mastering the use of my eye gaze communication device and I am doing that at record speed. I began having seizures immediately after birth, infantile spasms were added to the mix when I was just 2 months old, and delayed development followed closely behind. Finally, when I was 5 years old, I was diagnosed with the cause of all my medical challenges, a change in the STXBP1 gene. Unfortunately, that was about all they could tell my family about my diagnosis at that time. My doctors had never heard of it and the research community had only just begun to learn about it. We quickly found a group of families online whose children shared my diagnosis and so began the small group of passionate families searching for a treatment, determined to find a cure, and fervent in raising awareness among peers as well as the medical community.