TRIO Gene Mutation

On September 28th, 2000, Miguel Nico Hernandez was born. The doctors thought he was perfectly fine, but my mom had a “mom-feeling” that something was wrong. Turns out she was right. When he was only a few months old when he was clinically diagnosed with FG Syndrome a genetic condition that affects intelligence and behavior. Some physical characteristics - widely set eyes (hypertelorism), an upswept frontal hairline, and a large head compared to body size (relative macrocephaly) - along with epilepsy, physical disabilities, and mental delays were a few reasons why his doctors thought he had FG Syndrome.

Fast forward through years of laughter, story times, and hospital visits, we received the results of Miguel’s genetic panel. Turns out the clinical diagnosis was wrong, and in March of 2018, my brother was diagnosed with TRIO Gene Mutation. According to the Human Disease Genes, the TRIO Gene is “a multisystem disorder characterized by microcephaly, variable degrees of global developmental delay and/or intellectual disability, behavioural problems as well as minor hand abnormalities. Not all individuals with a mutation in the TRIO gene have these features.”

The doctors told us that it was so new and rare that they didn't have much information to give to us. Supposedly, my brother is one of twelve patients diagnosed with TRIO in the world. I created this page to find other families with children like my brother and to help each other learn and discover new ways to help them.