5 years old
Brentwood, Tennessee
Warrior #214
Matthew, our youngest of four, is a whirlwind of joy, curiosity, and determination. From the start, he was different. Born during the COVID-19 pandemic, he spent five days in the NICU for heart deceleration events (bradycardia). At eight days old, we brought him home, but he gained weight slowly and struggled with sleep compared to his siblings—Christopher (11), Natalie (9), and Maggie (7). As experienced parents, we noticed Matthew’s uniqueness early, but we couldn’t yet name it.
By 12 months, Matthew had only one word—“dada”—and began self-injurious behaviors, like head slamming, that left us heartbroken. He walked at 16 months, but his speech lagged far behind. His pediatrician, citing COVID’s social isolation, advised us to wait. Unconvinced, we started private speech therapy just before his second birthday, even as doctors dismissed his delays. Today, Matthew, a gestalt language learner, is mostly verbal, delighting everyone with his passionate monologues about lawn mowers, Roomba vacuums, and trace soccer cameras with their tripods. His quirky phrases—like calling blood pressure cuffs “pump-it-up band-aids” or saying “I turn you a goo”—are family inside jokes that light up our home.
Matthew’s journey took a terrifying turn at his preschool when he suffered a drop seizure, collapsing mid-play. The incident spurred a cascade of referrals to cardiologists and neurologists, landing us at an epilepsy diagnosis. Finding the right medication was grueling. Keppra worsened his self-injurious behaviors, levetiracetam caused alarming weight loss, and the drop seizures persisted. Desperate, I pushed for a longer EEG during a hospital admission. In a tear-filled conversation with the neurologist, I pleaded for answers. Almost as an afterthought, he suggested a free genetic seizure panel from Invitae. Two weeks later, in late March 2024, we had our answer: Matthew had SYNGAP1-related disorders, a rare genetic mutation affecting brain development.
The diagnosis hit me during a business trip to Rotterdam. Armed only with the internet, I discovered SRF and connected with founder Mike Graglia, who introduced me to Katrien Deckers and Tanganil, a potential therapy. On my way home, I stopped in Amsterdam to meet Katrien and her son Bear, who has SYNGAP1. In the back of an Uber, I received Matthew’s digital diagnosis—a c.333del mutation—and Katrien’s reply stunned me: Bear has the exact same mutation. Meeting Bear, a boy a few years older than Matthew, and talking with Katrien, a fellow SYNGAP1 mom, within a week of diagnosis, was a lifeline. SRF transformed our isolation into community, confirming that Matthew’s behaviors and delays weren’t our fault. We weren’t crazy—we had answers and allies.
Matthew is a vibrant 5-year-old who loves water, swimming, and helping with lawn care or home projects. His enthusiasm for lawn mowers and trace camera tripods is infectious—his big brother’s travel soccer team knows not to touch the tripod without Matthew’s watchful eye. His persistence shines through, whether mastering a new phrase or tackling a task. But challenges remain. Matthew struggles with biting, pinching, grabbing, and kicking, especially in loud environments. Sleep is tough, and he often curls up with us or a sibling. He’s on four medications—Clobazam, Briviact, Epidiolex, and cyproheptadine—and juggles an intense schedule: private speech therapy three times a week, occupational therapy twice weekly, ABA at home for eight hours, aqua therapy once a week, and half-day special education classes five days a week.
Our family of six is a team. Christopher, Natalie, and Maggie are Matthew’s fiercest advocates, holding his hand at loud school events, fetching his bite blankets, or including him at parks and jump parks. Their empathy amazes us, and we’re learning together how to support Matthew. His siblings’ involvement gives us hope as we prepare to relocate from Virginia Beach to Brentwood, Tennessee, seeking better resources and a family-friendly community. We dream of one day running a small lawn care business with Matthew, fueled by his love for the machines.
SRF has been our anchor, teaching us the language of SYNGAP1 care, fostering friendships with other families, and offering hope for future treatments. We grieve the milestones we once expected—like effortless conversations with his siblings—but we celebrate every victory: a new phrase like “come on, come on,” a swim across the pool, or a moment of connection at a soccer game. Advocacy is relentless—navigating waitlists and insurance—but SRF’s community keeps us strong.
Matthew’s SYNGAP1 journey is one of resilience, love, and family. He’s not defined by his diagnosis but by his sparkling curiosity, infectious laughter, and unyielding spirit. As we settle into Brentwood, we’ll keep fighting for him, cheering every “tripod teal camera” moment and holding onto hope for a brighter future.
With love – Brian and Melissa Smith
