Trace received his Syngap1 Diagnosis in September 2021 at the age of 3. He currently does not have an epilepsy or autism diagnosis, but will soon be evaluated for both.
Trace’s journey started when he was 6 months old with Congenital Nystagmus followed by developmental delays. We started noticing he was not able to sit, roll or eat baby foods. He was evaluated at 9 months by the school district and started receiving services along with professional therapies in PT, OT and Speech. Trace started sitting at 12 months, crawling at 18 months followed by walking at 2 years 3 months. We continued to search for answers and met with a neurologist along with genetics where he was given a Chromosomal Microarray testing. Results came back with no answers and a continued diagnosis of Developmentally delayed. Finally, after going through Whole Exome Sequencing we found Trace had Syngap1.
Today, Trace has started a preschool program and continues to thrive and meet milestones. We are so proud of his accomplishments this far and celebrate the littlest things on a daily basis. He is the little boy that will grab anyone’s hands to take you on his journey, provide you with a snuggles, make you smile ear to ear and laugh with his contagious giggles. Trace is the happiest when he is outside, “driving” the car, checking o tires, chasing bubbles, singing songs,reading books and most of all “swimming” in the bath tub.
We have so much hope for our little man and finding treatments for Syngap1