Ava (2022)
Non-ketotic hyperglycinemia (NKH) & a CACNA1E mutation

On June 6th, 2022 miss Ava decided to make her way into the world at 38 weeks and a day. Our seemingly healthy baby was then rushed down to Helen Devos children's hospital due to being born in a coma like state… which doctors originally thought was due to my 4 hour labor… this ultimately ended in her needing to be intubated just 6 hours after birth in order to be transferred two hours to our nearest children’s hospital. After three days of tests she was diagnosed with two extremely rare genetic diseases, NKH, which is a terminal illness and CACNA1E. Upon her diagnosis’ we were told she would likely suffer from hard to treat seizures, physical and intellectual delays, breathing difficulties, and that she likely wouldn’t make it out of the hospital. After 18 days she was taken off of the vent and after 24 days we were sent home on hospice. We discharged hospice after three weeks and she has continued to beat every obstacle set in her path. She had a surgery to get a VNS implant along with being on 4 different seizure medications, all while still dealing with multiple breakthrough seizures a day. On a good day she has 1-5 seizures a day and on a bad day she will have upwards of 100 seizures a day. She is now two years old… and though her prognosis was very close to our daily reality, she continues to push forward and show us just how strong she really is.