Tyeson’s Story

SLC-TyesonMy name is Tyeson. I am 9 years old. I have been considered a “puzzle” my whole life. My journey began around 9 months old. I was constantly starring off into space and didn’t have a lot of muscle control. I learned to walk around 11 months old. I would have a lot of falling spells and didn’t hear my name being called. My first EEG was normal so they thought that I was having facial tics. As I grew, I couldn’t talk and that would make me extremely frustrated. I had a lot of outbursts that would last for a long time. I had avoidance behaviors where I didn’t like being touched. The hardest year for me was when I was 2 years old. I was always falling down with abnormal eye blinking. I still couldn’t say a lot of words. This is when my parents decided to get a second opinion. This time on my EEG I had 12 seizures in a half an hour. I was diagnosed with epilepsy at the age of three. I started taking seizure meds and I began to see improvement unfortunately I continued to have language delays, motor problems, sensory seeking tendencies, and behavioral outbursts. Medications do not always work for me. We had decided to do genetic testing. The first time we didn’t get any answers as to why my seizures were happening. We decided to get one more opinion. Right before I turned 5 we went to an Epileptologist. They called my seizure type Atypical Absence but my “puzzle” was still not making any sense. They strongly encouraged my parents to do a whole genome sequencing test. We got the results that a new genetic mutation was discovered in 2015 called SLC6A1. It was associated with Myoclonic Astatic Epilepsy. They had finally found the piece that was missing. The medication that has been the most beneficial for me is Depakote. I have an intellectual disability, ADHD, sleep difficulties, word finding difficulties, and sensory issues. I spend a lot of time with doctors and therapists but all of my hard work is paying off. Life has definitely thrown so many obstacles at me but I continue to defy the odds and not let is slow me down. My favorite activities are to play baseball, swim, sing, fish, and make everyone laugh.

Thanks to scientists and researchers I was able to get an answer to the piece of the “puzzle” that was missing. My hope is that scientists are able to keep gaining knowledge about the SLC6A1 gene mutation so that treatments can be advanced so that someday maybe we don’t even have to mention this SLC6A1 gene. Until then I am going to make the best out of every single day!