6 years old
Howard, CO
Warrior #234
Phoenix’s name came to us late in the pregnancy. We had already settled on a name and then suddenly Phoenix came to mind. Definitively, we knew that would be his name. It was meant to be. He is our SYNGAP1 Warrior, our Phoenix rising, a cure would mean he could finally rise from the ashes and be born into his true, whole self.
Phoenix was a mellow baby, he slept well, was happy most of the time and would really just go with the flow. We started noticing the delays around six months when he just wouldn’t sit up. We would prop him up on his bottom and put pillows all around him because we knew, at some point, he would eventually just tip over. He missed all of his milestones. I would loath going to his doctors appointments with those forms I had to fill out, asking what he could do or not do, and having to mark that circle that says “not yet” on every single question. His doctor was pretty easy-going and I’m not much of a worrier so we thought “he’ll get there, he’s young, he has plenty of time, he’s probably fine.” And like all mothers, I thought my baby was just perfect the way he was.
At around two when he had finally started crawling, still wasn’t walking, wasn’t talking, we started receiving services. He got speech therapy, physical therapy, and occupational therapy. All the therapists thought he was as cute as could be, because he is, and they just couldn’t see anything that seemed really wrong. They all thought he would catch up, and me being a glass-is-half-full type person, I thought the same. Dad however, was a little more worried. And we went through several scenarios in our heads of what could possibly be wrong, but nothing ever came of it.
Around two is also when the intense behaviors started happening. He would attack any other child that came close to him. I became the helicopter mom constantly hovering around him at the playground and music class, anywhere where another child might be able to approach him. Trying to get him into his car seat was like wrangling a feral cat. I just thought it was the terrible twos. At this point he was still sleeping well, but that would soon change around three years old.
Phoenix and his older brother, Otto, were sharing a bedroom and a bed. For months they slept together, cuddling peacefully, everything was fine, until it wasn’t. We woke one night to Otto screaming and crying. We ran into the room for him to tell us that Phoenix was attacking him, thus began months of intense nighttime behavior. Sleepless nights, aggression, screaming, it was all so crazy. This would go on every night for a couple months and then there would be months of great peaceful sleep again. Then those behaviors started to manifest into the daytime hours as well. It felt unmanageable, but still we just thought it was his personality, terrible twos, toddler tantrums.
Looking back now, I can’t believe I didn’t think to ask a specialist, ask his doctor more questions. I guess I just felt we needed to tough it out. At the time we had no idea what a neurological disorder even was and I didn’t even know that that was a thing. And given the doctors and the therapist view of “he seems fine” we just went with that and toughed it out.
At three years old, we put him in a public preschool. Of course we had to go through all the evaluations, meetings, IEPs, etc. I just remember crying so much, I mean, I knew my child was behind, but to see the concern and amount of help and support that he would need and would receive through the school, was both crushing and also relieving. It was like “wow, he requires a lot of attention and support. And we were trying to do it all on our own.“ The school was a good fit, he had a great special ed teacher and he loved it. After a brief honeymoon period of him being a “perfect little angel”, they too started seeing the aggressive behaviors.
Phoenix still wasn’t speaking at four years old and this is when we became very concerned. We had been using sign language since he was a baby so that was his main form of communication. We successfully potty trained him, and he was completely out of diapers just after his fourth birthday, which we were all very proud of. He was continuing his therapies with minimal, but slow and steady progress.
Everything changed a couple months after his fifth birthday in the summer of 2025. We had recently seen his doctor and told him about the continued behavior problems, sleep disruptions, aggressive behaviors, continued developmental delays, and we decided it would be a good idea to get a full neurological evaluation at Children’s Hospital. Just a week after that Dr’s appointment I noticed something strange. We were on the back porch, just playing and hanging out, when I noticed a sudden pause in his actions, a blank stare across his face, and eyes fluttering. It was like he had gone “off-line” for a moment. It was very noticeable. It was also very scary and I asked Dad if he had ever seen anything like that. He confirmed that he thought he had seen that before too.
So of course I went to Google, put in the symptoms and it came up absence seizures. We immediately went back to the doctor told him about the potential seizure activity, and he said he would call children’s Hospital neurology department immediately. Just a couple days later we were in a bed at Children’s Hospital in Colorado Springs, Colorado hooked up to an EEG machine. They kept it on overnight and not only recorded over 20 seizures, they also saw very abnormal brain activity, slow brain waves, and many discharges. They also put him under general anesthesia and did an MRI on his brain. The plan was to put him on anti-seizure medication immediately and the neurologist also asked if we would be willing to do genetic testing, which we agreed to.
On October 27, 2025 at 6:30 PM, just as we were getting ready for bed, I get a ping on my phone saying I have new test results to view in the MyChart app. This was about two months ahead of when we were expecting to get the genetic test results back,so I wasn’t even expecting it to be the genetic test results. But it was. SYNGAP1. What in the world is that? Of course we went straight to Google copied and pasted it in. As I read through what are SYNGAP1-Related Disorders, it was like I was reading a manuscript of my own child. It described him perfectly to a T. I went to bed, bawling my eyes out and then got up and just started doing research.
Of course it was a roller coaster of emotions. Devastation, sadness, despair but also some relief. And validation, like I’m not just a terrible parent, and my child isn’t just horrible or crazy! He has a real, serious, rare, genetic disorder.
It still feels like a roller coaster. We still don’t know what the future would hold, but now it’s easier to accept Phoenix for who he is why he acts the way he does, and to have even more compassion for him.
Phoenix is a fun-loving adventure-seeking amazing human being. People are drawn to him, especially adults. He knows how to work a room and grab everyone’s attention. His laugh is boisterous and contagious and makes everyone smile and laugh right along with him. He his a helper at heart, and wants to be involved in any and everything that we are doing. He loves anything dangerous and exciting. He loves riding on the dirt bike with dad, driving his toy tractor around, swings and slides, sledding in the snow, jumping on the trampoline, and swinging upside down on rings. He also enjoys water, anything that spins like fans and helicopters, lights; his happy place is outside, but also really loves his bedroom.
We still experience the intense behaviors multiple times a day. He is still technically nonverbal. He is still on daily anti-seizure medication. Our home life feels hectic and unstable a lot of the time. What some people don’t realize about receiving a diagnosis like this, is that it doesn’t just affect the person who’s diagnosed, it affects the entire family. We all suffer.
We love Phoenix more than anything, obviously, but it is also extremely challenging for our entire family. We would love to have a more peaceful and stable home, we would love to hear all the thoughts and ideas that he has in his mind, we would love to be able to go on family outings without worrying if it’s going to end in a disaster. This would all be possible with a treatment or a cure for SYNGAP1. We are sharing our story to help bring awareness and recognition to this horrible and rare disorder in hopes that CURE SYNGAP1 receives funding for research, treatments, and a possible cure the near future.
