Mae's Journey with SCN8A

Mae was born nearly five months ago and has spent the majority of her life in the NICU and PICU. Mae was born premature and she was quickly diagnosed with a movement disorder, hyperekplexia. After discharge from the NICU, they awaited the genetic diagnosis to confirm. Mae’s genetic results confirmed the movement disorder, while also diagnosing her with an ultra-rare genetic disorder, SCN8A related epilepsy. Mae is one of about 700 known cases worldwide. Soon after, her seizures began.

Mae's parents, Kelly and Cory, have had to stay in hotels close to the hospital when the nearest Ronald McDonald House doesn't have space.

On Friday, April 14th Mae had surgery to have a VNS device implanted. Vagus nerve stimulation (VNS) may prevent or lessen seizures by sending regular, mild pulses of electrical energy to the brain via the vagus nerve. The therapy consists of a device that is implanted under the skin in the left chest area.

Mae's journey with epilepsy and hyperekplexia is only beginning. Mae, Kelly, and Cory have been extremely strong throughout this entire process, but they need your help. Please consider donating to help with medical and living expenses. Thank you for your prayers and support!