Since SynGap Research Fund was first identified in medical institutions and studied, there have been advocacy groups devoted to raising awareness of its mutation. The SYNGAP1 gene is located in the brain and provides instructions for making a protein that plays a vital role in nerve cells in the brain. The gene and mutation is found at the junctions or “synapses” of cells, where cell-to-cell communication occurs. Connected nerve cells act as the “wiring” in the brain’s circuitry. Synapses can change and adapt over time, rewiring brain circuits, which is critical for learning and memory. There are many synapse mutations that exist, with SYNGAP1 being just one of many that have been identified. SYNGAP1 Patients are diagnosed via genetic testing with disability identification resulting thereafter.
Every parent wants a certain degree of normalcy for their children, as well as their families, and Jess Fares is no different. One thing she wants others to know is that her 6-year-old son Cole has a gene mutation and rare disease called SYNGAP1, which affects his behavior and lack of speech to communicate. She says, “Making life for your other kids more normal is one of the biggest/top guilts,” says Hudson mom Jess Fares. She tries to make life as normal as possible for her other two neurotypical kids, but realizes that’s not always feasible. Cole struggles with severe aggression/behavioral issues, Autism, non-verbal issues and impulsivity (e.g., if the doors were not locked 24/7, Cole would escape from the house). Learning disabilities, epilepsy, behavioral challenges, autism and sensory processing disorder are additional conditions that SYNGAP1 patients can present with as well.
Cole’s condition requires safety measures to be extreme. The family has about thirteen different locks in their house consisting of indoor, bedroom, toilet, and cabinet areas, as they are concerned with him climbing or hurting himself and/or trying to escape their home. If Cole gets mad he bites his knee and will try to bite a person or a table. The Fares Family’s biggest worry is that Cole cannot be left alone.
June 21st was SYNGAP awareness day and Jess wants to bring more awareness to her community about this rare, but under-diagnosed disease that currently affects around 1,200 people globally (~343 in the U.S.), or 1% of the population.
Saturday June 17th, Jess and some other Syngap families hosted a Splash for Syngap. Splash for Syngap is the day when all families affected by the SYNGAP1 gene mutation around the world come together to participate in an online event through social media. They hope that by celebrating Cole with these awareness days helps others to learn to be more emphatic about those in their community living with different disabilities. The Splash event was a day to raise awareness amongst the international community about SYNGAP1 and celebrate with kids. “Splash is such a fun way to get the whole family involved in raising awareness and celebrating our son with SYNGAP1. We were so lucky to have another family from PA join us as well”, says Jess Fares, additionally “Life with SYNGAP1 is hard, but having another family to celebrate our kids with makes a big difference.”
Having an organization such as this with a community to lean on helps raise awareness to help more families affected by SYNGAP1. For more information on SynGap Research Fund Foundation, you may visit the website @ https://www.syngapresearchfund.org/home/what-is-syngap1?gad=1/ , where much of the information contained within was gleaned from.
