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.
