3 years old
Illinois
Warrior #212
“A year ago, I found myself reading the “Our Warrior” stories, having just received our 2-year-old daughter’s SYNGAP1 diagnosis. With tear-filled eyes, I read page after page of stories, all filled with resilience, love, grief, and hope. Reading these stories helped me through one of the most devastating and uncertain moments in my life. Having had time to process and reflect, it’s now my turn to share and possibly even help a newly diagnosed family. I love a SYNGAP Warrior, and this is her story.” – Liz Werner, Erin’s Mom
Our warrior, Erin, was born in June of 2021. Erin’s fierce determination was clear from the very start. She earned her nickname “Charmander” (a fire-type Pokémon character) when she was only a few hours old. What we didn’t know at the time was just how much she would need that fiery spirit in the years ahead.
Erin started missing milestones early on. While we were continually reassured that Erin was “running her own race”, our intuition told us otherwise. By nine months old, she was receiving weekly physical therapy, occupational therapy, developmental therapy, and speech therapy. Not long after, she was diagnosed with Global Developmental Delays and Hypotonia.
Progress was slow, and Erin continued to fight for each milestone. She rolled, then crawled, and, after months of intensive physical therapy, walked independently at 22 months. With the help of a nutritionist and feeding specialist, she overcame significant feeding challenges and concerns of slow weight gain, learning to chew and swallow at 15 months. Despite her persistence and progress, the gaps continued to grow, particularly in language development. At 3 years old, Erin is still nonverbal and communicates through signing and her AAC device.
Those months were extremely difficult. Each day was filled with guilt, wondering if we were doing enough to support her development and not understanding what was really going on. All the while, we clung desperately to (increasingly fading) hope that somehow everything, with enough therapy and the right specialists, would eventually resolve itself.
Reality hit in March of 2024. One evening, Erin experienced repeated eyelid fluttering that we thought could be seizures. We took her to the Emergency Department, and she was admitted. An EEG confirmed seizure activity. During her hospitalization, her neurologist (thankfully) recommended genetic testing and started Erin on anti-seizure medication.
On April 11th, during a telehealth call, we were told that genetic testing had revealed a mutation in the SYNGAP1 gene. The genetic counselor listed its associated symptoms: seizures, developmental delays, feeding difficulties, hypotonia, GI issues, constipation, and motor planning delays. Everything that Erin had experienced. As she spoke, the pieces of a puzzle fell into place, finally explaining all the missed milestones and struggles and how they all were connected. While we had a sudden clarity, we were also overwhelmed with uncertainty and immense grief as the realization of this diagnosis hit us. Our baby has a genetic condition that will not resolve itself. Moreover, there was no treatment or cure.
In our search to understand Erin’s diagnosis and what it would mean for her future, we found the SynGAP Research Fund. SRF is often described as a “lifeline,” and there truly may be no better description. SRF didn’t just provide information–it provided our family with an immediate connection to the most incredible community of individuals and hope for future treatment. Within days of Erin’s diagnosis, I was on the phone with another SYNGAP1 mom. Through sharing her own experiences and understanding, she helped me navigate my (still very fresh) grief. A month later, we were seen by a team of specialists at the Children’s Hospital of Philadelphia (CHOP) and enrolled in a Natural History Study. SRF has given us tangible and meaningful ways to participate in working towards a better future for our daughter. This has meant everything to us.
Erin’s SYNGAP1 diagnosis turned our world upside down, but she continues to take on every challenge that comes (or we throw) her way. Two trips to CHOP, multiple blood draws, and nose swabs for research, EEGs, appointments with specialists, daily anti-seizure medications, and hours of therapies (Speech, PT, OT) each week. Erin truly is a warrior.
But being a SYNGAP Warrior is just one part of her story. Erin is a silly, joyful 3-year-old. Her laughter, though sometimes hard-earned, is the best sound in the world. She can be skeptical and opinionated, and she doesn’t hesitate to give a side-eye. However, she is sweet to her core, kissing each of her stuffed animals goodnight before bed. She takes every opportunity to splash in water, lights up when watching fish at the aquarium, and loves reenacting scenes from her favorite Disney movies. She is creative, persistent, and consistently finds solutions to challenges. Every day, she proves that she is not to be underestimated.
As we approach the one-year anniversary of Erin’s diagnosis, we have a deep sense of gratitude for the strength and progress she continues to show. Erin’s story, like that of many other warriors, is one of determination, perseverance, and the power of community. Although this is a story I never wanted to write, we have hope for Erin’s continued progress. We are grateful to be part of a community of families invested in a better future for all our SYNGAP Warriors.
