Kelly’s Story

Hello, my name is Kelly. Within 24 hours after I was born I started having seizures and no one could figure out why. After a month in the NICU and spending most of that time under sedation due to uncontrolled seizures and with every test possible being done and still no answers, my mom decided to transfer me to a larger hospital to seek further help. Within a week the larger hospital’s genetic and neurological teams had a diagnosis of KCNQ2 de novo gene mutation and placed me on anti-epileptics to help control my seizures. I was weaned off of one of the medicines before a year old and when my doctor tried to wean me off the other I had a grand mal seizure and had to be placed back on one medication. I still take this medication and I have global developmental delays right now. I get speech, occupational and physical therapy every week. I am almost three and I can scoot around on my bum, but cannot walk or crawl. I verbally express myself with babbling and occasional single words, but am generally unable to communicate my needs or feelings and often have tantrums and sensory overstimulation that makes it hard for me to handle different environments. My doctor wants me to get assessed for Autism now and believes I may have this due to behavioral issues/patterns and being easily overstimulated. I am a happy, sweet girl though and I enjoy looking at books, listening to music and hanging with my mom. We are still seeking more help and answers as to how to best support my growth and to help me thrive with this condition.