Category: technology

Nothing, Again

A few years ago, we did genetic testing for the first time. An exome sequencing — not the full genome, but a significant portion of it. They found a variation in the PRICKLE1 gene, which is associated with epilepsy. It looked like it might be something.

It wasn’t.

We were told the science was always advancing. New connections were being made between genetic variations and conditions like his. It would be worth revisiting in a few years.

So we did.

This time it was the whole genome. All three of us — my son, his mom, and me. The test looked for epilepsy markers, indicators connected to intellectual disability, and secondary findings in areas like heart and cancer risk. The technology had advanced. The dataset was larger. There was more to look at than there was last time.

I didn’t go in with much hope. Not because I’ve given up, but because I know where we are. My son is sixteen, and we’re twelve years into our epilepsy journey. We’ve tried most of what there is to try. We know his condition better than most people ever know anything. A clearly-named cause wouldn’t open new treatment doors at this point. It would just be a name.

What I was actually hoping for was not to hear something worse. There are types of epilepsy with harder trajectories than the one we’re already on. A result isn’t always good news. Sometimes it reframes everything you thought you understood.

I got a voicemail from the genetic team. I called back and left one of my own. A few days passed. Then they called me at work.

The call lasted for about five minutes.

The epilepsy markers and the intellectual disability indicators. Nothing found.

She asked if I had any questions. I didn’t.

The secondary findings came back clear for all three of us. No elevated markers for heart conditions. No increased cancer risk. That was genuinely good news. It landed as good news. I noticed that it did.

At the end of the call, she said that science is always advancing. New connections are being made. She said we should revisit in two years.

I recognized the closing. It was the same one from last time, when the PRICKLE1 variation turned out to be nothing. We’ll keep looking. Check back when the data has caught up.

I said thank you. I hung up. I went back to work.

That’s the part I keep coming back to. Not the results. It’s how quickly I moved on. There was a time when a call like that would have carried weight for days. The waiting, the callback, the five minutes of someone telling me we still don’t know. That used to be an event.

Now it’s just a Wednesday.

I don’t know if that’s peace or just distance. I don’t know if I’ve made my peace with the uncertainty or if I’ve just stopped expecting it to resolve. Those aren’t the same thing, even if they look similar from the outside.

What I know is this. He is who he is, named or unnamed. The cause doesn’t change the kid. It doesn’t change what we do tomorrow, or next week, or when the next appointment comes.

In two years, we’ll do it again. We’ll see what the science has found by then.

Until then, we’ll keep doing what we’re doing. Living our lives. Hoping the science advances. Hoping for new medications, new treatment options. Hoping his DBS continues to provide more benefit. Doing what we’ve been doing since the last time we sat down for this test.

Living, and waiting.

In that order.

Scars and Survival

Last summer, I was at the pool with my son.

It wasn’t that long ago that he needed to stand on his tiptoes to keep his head above the water. Now, standing over six feet tall (the tallest in our family, as he likes to tell everyone), only his waist is submerged. His skinny torso sticks up like a twig in a pond.

His body carries many markers from his life. There are scars from his adventures and falls. There are stretch marks on his lower back from his growth spurt. And there are remnants from the incisions on his chest and neck from his surgeries that implanted the two devices and the leads to his brain.

It’s hard not to notice, prominently pushing against the skin on his chest, the two implants. Against that skinny frame, with no fat or muscle to buffer them, the devices look huge. They are a permanent alteration to the contours of his body, captured on his chest like a relief map, describing the differences in elevation and the way the land rises and falls. And similar to the permanence of mountains in our lifetime, they will remain a defining part of his body’s landscape.

Of all the recorded history on his body, the implants are the hardest for me to see. The scars, even those from his surgeries, can be rationalized away as everyday occurrences of a growing child. I’ve had a scar above my eye since I was five, when I chased my sister under a glass table and forgot to duck. I’ve had a scar under my chin from when I was ten and tried to jump over a softball on my bike. And I have scars on my hands and arms from the countless times that I clumsily pulled something from the oven without protection and burned myself.

But the implants can’t be explained away as normal consequences of living. They are more than just damaged or healing skin and tissue. They are unnatural, and there is no alternative explanation to the reality that they are devices inserted into his young body to help reduce his seizures. They are visible reminders of his challenges—challenges, like the devices themselves, that he will likely carry for the rest of his life.

Seeing them, it’s easy to fixate on the implications and miss out on the significance of the moments that they enable. He’s alive. He’s having fewer seizures and has stopped a few medications. He and I were in a pool playing basketball, spending time together, and laughing. The reason he has the devices may be overwhelming, but the life they allow him to live is a medical miracle.

I still see the devices when I look at him, but I’m learning to see them differently. They don’t just mark his struggle—they also mark his survival. They are symbols of how far medicine has come, of how far he has come, and of the moments we still get to share.

A Song of His Own

“Dad, I made a song.”

That was the first thing my son said to me when I got home from work.

“That’s cool, pal!” I responded, thinking he had jotted down a few lyrics to show me.

“Do you want to hear it?” he asked.

Hear it, I thought. Interesting. “Of course!” I said, following him to his room.

I sat on the corner of his bed as he went to the computer.

“Ready?”

I nodded.

He hit play, and from his speakers came an actual rock song. Drums. Bass. Electric guitar. And a vocalist singing about the Colorado Avalanche (my son’s team) defeating the Tampa Bay Lightning (my team) in the NHL Stanley Cup Finals in 2022, the year we were in Colorado and went to a finals game. A game that, as my son constantly reminds me, the Avalanche won 7-0 on their way to hoisting the cup.

As I listened to the song, I watched the smile on my son’s face, especially when the lyrics touched on the game we attended, continued to widen—the smile of pride, connection, and love. It’s the single best sight that I will ever see.

Tampa’s thunder tried to fight,
But Colorado owned the night.

When the song finished, I stared with my jaw dangling open, which caused his smile to grow even wider.

“How?” I asked.

And he walked me through his process, prompting an AI tool with styles, themes, and concepts until he had a completed song.

“Well,” I said. “This has to be on Spotify.”

“Really?” he asked, his voice caught somewhere between disbelief and excitement.

“Really,” I confirmed. “I’ll figure out how to get it distributed so that everyone can hear it.”

For all the challenges my son has, his creativity and ability to figure things out are truly inspiring. When my wife and I were discussing her next book, my son decided to write a Fortnite Tips book, complete with an illustrated title. He gets inspired by videos of his favorite players and builds giant arenas and stadiums in Minecraft—sometimes following tutorials, other times just experimenting until it works. And now, he figured out how to make a song.

It could have been so easy for him to let obstacles define him. To look at the world through the lens of what isn’t possible. But he doesn’t. He assumes everything is possible, and then he goes and proves it. As a parent, it’s more than I could have ever wished for him.

A few weeks later, I went into his room and showed him my phone. I had the Apple Music app up and, ready to play, was the hit new song from the artist neurodefender titled “Avalanche Rising.”

We sat together and listened to it again. He gave me the same look and smile as the lyrics recounted the Avalanche victory. He grabbed his phone and pulled the song up on Spotify, replaying it for the rest of the night. When he joined his friends online, I could hear him telling them about his song, too.

And in that moment, I realized something: no matter the struggles, no matter the setbacks, my son keeps finding ways to make his voice heard. Sometimes literally. Always beautifully. And I’ll never stop listening.