My name is Lolly, and I’m 11 years-old. I love My Little Pony, making slime, remembering people’s birthdays, and hanging out with my friends.
I had trouble with speech and language when I was younger, so my parents worked to get me into doctors who could tell them what was going on. Sometimes I lost my balance easily, fell, and started to shake. Other times, I wouldn’t respond when they were talking to me. In school, I was getting in trouble for not listening or following directions.
When they found out I had epilepsy, my doctors tried three different medications to help me, but all the medications made it harder for me to think and behave well. My parents finally decided to stop all my medications, and we started trying to control my seizures with diet, exercise, and good sleep.
My parents continued to try to find a cause for my epilepsy, but my neurologist wouldn’t refer me for genetic testing. Eventually, my parents got through to my pediatrician, and my pediatrician referred me for genetic testing. We got our SLC6a1 mutation diagnosis in 2016.
My mom says the diagnosis finally helped my symptoms make sense. Mom thought some of the anti-epilepsy medications I was on probably made my mutation worse instead of making my epilepsy better. We are so thankful we can focus on finding medications that work for me, and we urge every person we know with epilepsy or developmental delay to get genetic testing.
It’s hard for me to have to go to bed early every night when other kids are playing—I have to miss out on a lot of fun events. But it’s all we can do until we find better medications or a cure.