22 years old
Michigan
Warrior #236
Just six months ago, at 5:30 on a Friday, after a long week, my phone rang. I almost didn’t answer, figuring it was a robocall confirming another appointment. Instead, it was the genetic counselor.
After 22½ years and soooo many tests, workups, and rounds of sequencing that came back negative, they had actually found something…
It came with a bucket of mixed emotions. I was somewhat shocked … Instantly curious … Not surprised it was ultra-rare. Everything about Weston had always been atypical, non-specific, or “almost” something. And naturally there was no treatment, no cure…it was somewhat anti-climactic. Just keep on keeping on with what we were already doing.
BUT there was a “something.” A name and a “why” for this “constellation of complexities,” this “conundrum”, as experts had described Weston. And relief in knowing it wasn’t anything we had done or could have prevented.
When Weston was nine months old and still couldn’t sit unsupported, I felt an itch I didn’t want to acknowledge. By 12 months, it was undeniable. Our first specialist explained that we’d likely never have an answer; that there was something deep within Weston’s brain that they just couldn’t see. He told us that not having a diagnosis could actually be a gift because Weston wouldn’t be labeled with a preconceived ceiling. An idea I’ve clung to for years.
We knew then we were changing course…but we had NO idea where it would take us.
There were years of evaluations and labels that explained parts of Weston but never all of him. There were professionals who looked me in the eye and told me my son did NOT have autism. Sooo many times I wondered if I really was the crazy mom because Weston just never seemed to fit.
And while we were trying to figure him out, Weston kept growing up.
Being the youngest of four boys meant sports and guy humor, roller coasters and going fast. Like his bros, he thought SpongeBob was hilarious, laughing so hard while eating breakfast in front of the TV that food sometimes spit out of his mouth. His brothers were protective but pushed him to take chances we probably wouldn’t have.
We learned that Weston was consistently inconsistent; his skills were like Swiss cheese, never following a normal linear path. Making his body do what he wanted wasn’t always possible either. He could do something spontaneously and then not on demand, always appearing capable of less than what he really could do.
So instead of play dates, there were therapy sessions three times a week. While we understood therapy was crucial, we also knew so was being around other kids. Weston wanted to be with his peers and, much like his brothers, they were often his best teachers.
But even as he gained some skills, words were always a struggle. Stringing thoughts together was even harder. Sometimes, behavior, refusal, or escape said what words couldn’t.
Much of those early years is honestly a blur of survival. There was no playbook. Sometimes we were working on “Plan G” because A through F were already out the window. There was aggression, elopement, broken things, blood, tears — and seizures. I used to joke that our doorbell should play “Welcome to the Jungle.” It seemed way more real than “ding-dong.” Most of the time, we were just trying to get through the moment.
But at some point, we stopped searching and started working with what we knew about Weston. Presume competence. Hold him accountable. Let him take risks.
Now, at almost 23, it’s clear Weston wants his own life.
He’s happy living in his condo with support and working part-time at a local restaurant. Being part of the team, doing a good job — that matters to him. He’s also somewhat of a celebrity in our small town. Trips to Target or the grocery store usually include somebody calling out, “Hi Weston!”
He’s always had an unbelievable sense of direction. If I make a wrong turn, I immediately hear, “Where going?” He loves to travel, maybe more for the journey than the destination. He loves Xbox, elevators, crosswalks, and, unfortunately, obnoxious Bad Caillou videos.
As far as he’s concerned, life is good as long as he has Wi-Fi, doesn’t get caught in the rain, and can sip his Starbucks iced coffee.
And yet, life is still really hard in ways people don’t necessarily see.
Weston can live on his own and still require significant support. He can be a small-town celebrity and struggle with maintaining friendships. He can know what he wants to say and not be able to get the words out. He can be capable of so much and still have seizures stealing pieces of his day. Even now, Weston can’t really tell us what those little blackouts feel like, how the medications make him feel, or even whether they help.
That Friday phone call didn’t change any of this. The diagnosis didn’t change Weston.
Before we knew it was SYNGAP1, we had reached a place of acceptance: this is where Weston’s at. How do we leverage what he can do and what we know he can learn to help him live the most independent, meaningful, safe, and connected life he can?
But after that call, a different kind of cautious hope surfaced…
Within days, we connected with other SYNGAP1 families. Finally, a community that fit. We started learning about research, clinical trials, and what might be coming. And strangely enough, all those hospitals, doctors, and tests Weston has never minded, and actually finds fascinating, might come in handy. He can’t wait for his first ProMMIS appointment next month…to be part of the science that could help other SYNGAP1 families and perhaps help him too.
Real change could happen in Weston’s lifetime…
Maybe it isn’t a cure. Maybe it’s simply a treatment that makes life easier for him. Fewer seizures, or better yet…seizure freedom. More bandwidth for relationships, work, family, laughter. The ordinary things that make life meaningful. The ability to communicate all the things he’s struggled for so many years to help us understand.
Maybe what we thought was possible for Weston really is possible — maybe even more.
And maybe someday Weston will be able to tell this story in his own words.
Because he is the Warrior on this journey!
