2 years old
St. George, Utah
Warrior #227
Our sweet boy, Jackson, was born on September 14, 2023, in St. George, Utah. From the very beginning, he showed us just how strong he is.
Jackson’s birth was traumatic. It was a long labor, and when he finally arrived, I remember lying there, watching the seconds pass, thinking, “Why is it taking so long for him to breathe?” In that moment, a quiet fear settled into my heart, one that never fully left.
The first six months of Jackson’s life were incredibly hard. He struggled with severe reflux and colic, and it felt like the crying never stopped. He was almost always uncomfortable, and our hearts broke watching him seem so unsettled and in pain. We tried everything we could to help him, desperate to bring him relief, but nothing seemed to last. Those early months were exhausting, emotional, and isolating in ways we never could have imagined.
When he was around seven months old, things finally began to shift. Jackson seemed more comfortable, and we started to see his sweet, happy personality shine through. As the crying eased, though, new worries quietly took its place.
Jackson was significantly behind on his milestones. At first, we told ourselves it was just a slow start, likely the result of such a rough beginning. I brought up my concerns to his pediatrician more than once, and each time, I was reassured that boys often develop more slowly. Still, deep down, I knew something wasn’t quite right.
Jackson sat up independently at 11 months, began crawling at 16 months, and around 18 months started pulling himself up on furniture. Around that same time, we noticed eye flutters. At first, we thought he was simply tired, but after an EEG, we learned he was experiencing eyelid myoclonic and absence seizures.
Around two years old, Jackson clapped his hands for the very first time, a moment that felt monumental to us. He is now 2 years and 3 months old and is not yet walking independently, but we remain hopeful that milestone will come in his own time.
We received Jackson’s diagnosis when he was 18 months old, just two weeks after welcoming his little brother into the world. It was an incredibly intense postpartum season, filled with exhaustion, emotion, and uncertainty.
Genetic testing revealed that Jackson has SYNGAP1-Related Disorders (SRD), with the variant c.2620C>T (p.Gln874*) on Exon 15. The diagnosis brought a flood of emotions all at once. There was grief and fear, but also relief in finally having a name for what we had been seeing. That clarity, however, came with so many unknowns.
Learning about SYNGAP1 has been both devastating and empowering. We dove headfirst into research, support groups, and learning everything we could. The more we learned, the more we realized how rare and complex this disorder is, and just how strong and compassionate the SYNGAP1 community truly is. Emotionally, it has been a roller coaster. Some days feel heavy with grief for the life we once imagined for Jackson. Other days are filled with deep gratitude for who he is, exactly as he is.
Feeding has been one of Jackson’s biggest challenges. Solid foods are very difficult for him, so he currently relies on Compleat Pediatric Formula and yogurt pouches throughout the day. We are actively working on helping him drink independently from a straw and feed himself. Right now, he opens his mouth and waits for assistance rather than initiating feeding on his own. If he drops his bottle, he does not yet recognize that he can pick it up and bring it back to his mouth.
Since he was 10 months old, Jackson has been receiving occupational and physical therapy. He began speech therapy at age two, and in October 2025 he started ABA therapy, which he absolutely loves. Each morning, Jackson attends ABA therapy from 8:30 to 11:30. After coming home to rest and nap, most afternoons include additional therapy, whether that is outpatient occupational, physical, or speech therapy at the hospital, or Early Intervention services provided at home.
Jackson is the sweetest boy. His deep belly laughs are contagious and fill our home with light. He loves pressing his forehead against yours and giving kisses. Like many SYNGAP1 kids, Jackson absolutely loves water. Bath time, splashing, and anything involving water bring him so much joy and a sense of calm.
We have noticed that many of Jackson’s behavioral challenges stem from medication side effects, difficulty expressing his needs, or being overstimulated or sometimes not stimulated enough. When days are hard, they are truly hard. But when days are good, they are unbelievably beautiful.
Our biggest challenges include seizures, feeding difficulties, communication barriers, and developmental delays, along with navigating the emotional weight of an ultra-rare diagnosis while raising a growing family. At the same time, our greatest joys are found in the smallest moments. Jackson’s laughter, his kisses, his love for water, and each milestone reached on his own timeline mean everything to us.
We cope by taking life one day at a time. We celebrate every win, no matter how small. We lean into therapy, research, and community, and we remind ourselves daily that Jackson is not defined by his diagnosis.
Our hope for the future is simple. We hope Jackson continues to grow, learn, and experience joy. We hope for advancements in treatment, greater awareness of SYNGAP1, and a world that makes space for kids like Jackson. Most of all, we hope he always feels deeply loved, supported, and understood.
Jackson is our warrior, and we are endlessly proud to be his parents.
