What a Microdeletion Looks Like for Us

Recently I posted on Facebook a link to an article about a little girl who has the same chromosome deletion as Theo: 2p16.3 (also known as an NRXN1 deletion). I liked the article (1) because I know the little girl through my Facebook group, and (2) because it was a relatively well-balanced article about the deletion in terms of challenges vs. positives. However, some of the language in the article wasn’t great, and a couple of friends suggested I write something myself. And I’ve actually been meaning to write about Theo for a while, so…why not?

I haven’t written much about Theo lately because as he gets older, his story is increasingly his to tell and not mine. I try to respect that. However, I also know a number of people have found my blog because there just isn’t much out there about 2p16.3, so apparently if you Google it, eventually my blog comes up. And because so little is known about the deletion, it’s hard to find useful information on it—and by “useful,” I mean “understandable to a layperson and not super scary.” When Theo was diagnosed, pretty much the only things I could find were rather terrifying, and consequently I was a wreck upon reading them.

So, perhaps this can be useful for those parents or people who suddenly find out this unusual deletion is part of their life in some way. At least, that’s my hope. And at the same time, I will try to respect Theo’s boundaries and talk mostly about how this affects me from a parenting standpoint—not to make it all about me, but because I don’t want to tell Theo’s story when he has his a voice of his own to tell it.

As I said, when I found out Theo had a chromosome deletion, I panicked. I don’t really know why except that it was unknown. We’d already had one surprise diagnosis with Sam, and I had accepted that and come to peace with it fairly quickly, but I wasn’t exactly looking for another surprise—especially not one that came with so many unknowns.

What did I know in those first days? Well, from what I could find, I knew that:

  • It means that there’s a piece of a chromosome missing—in this case, a piece called 2p16.3.
  • It affects every single cell in the body (much like Down syndrome does for Sam).
  • There were only 32 known cases in the world at the time.
  • Autism is very common in individuals who have this deletion.
  • Seizures are very common in individuals who have this deletion.
  • Learning disabilities and delays are very common in individuals who have this deletion.
  • Schizophrenia has possibly been linked to individuals who have this deletion.

That last one is what stopped me in my tracks and knocked the wind out of me. That was the one I wasn’t sure I could handle. It’s still the one I’m not sure I can handle. But of course I can, because we just do, right? We accept what comes and we work with it.

And truly, as I learned more, I found that the schizophrenia link is very, very tenuous at best. It’s not something that I should lie awake worrying about, so I won’t. By this point, almost a year after Theo’s diagnosis, there have been many, many more people identified with this chromosome deletion, and more research has been done. It’s highly scientific, and even with my fairly good science background, much of it goes above my head. But from what I can tell, the possible schizophrenia link is in individuals who have large deletions that include this gene, whereas Theo has what’s called a microdeletion—which means, as you would suspect, a very, very small deletion.

I read yesterday that they are now estimating the incidence of this particular microdeletion at 1 in 5,000 people. I’m not sure I believe the numbers yet, because there are still so many people who haven’t had genetic testing, and the testing for these sorts of chromosomal issues has skyrocketed even in the past year. I think I’ll believe the numbers more in ten or fifteen years, when we have a much bigger sample size. But regardless, the deletion, while still rare, is not nearly as rare as we thought it was a year ago.

The other thing I know about this deletion is that it looks very, very different in everyone. I have connected with numerous people around the globe who either have the deletion themselves or have children with it, and no two cases look very much alike. There are some similarities, certainly, but really, they look very, very different. I know people whose children have died from disorders believed to be related to the deletion. I know people whose children are not expected to see their fourth birthday for the same reason. I know people whose kids have autism, thought to be linked to the deletion. I know people whose kids have learning disabilities, again thought to be linked to the deletion. And I know people who appear on the surface to have no effects from the deletion. If they have effects from it, they haven’t linked the two—or, like I do with Theo, they wonder if something might be related to it, but they realize there’s really no way to know.

So at this point, this is where we stand:

  • I’m not going to worry about schizophrenia because it is likely a minor concern, and there’s nothing we can do about it anyway.
  • We ruled out seizures with a simple EEG, which he sailed through.
  • We already know he has autism; we know what it looks like in Theo and how to work to help him when it presents challenges.
  • We already knew he had a likely learning disability, and again, we’re fairly comfortable with knowing how to work with that.

In a way, knowing about this deletion has been a blessing. It shook me at first, but then it gave me peace. I wanted to know why he has autism. It’s not that I want to change him—on the contrary, I fall very much into the school that believes that autism is simply neurodiversity, not something to be “cured.” In other words, he thinks differently, and we know that and we work with it; we don’t try to “cure” him or force him to conform. We do, however, try to help him learn how to make his own life easier where possible, because some of his neurodiversity doesn’t necessarily fit all that perfectly in social and school situations. (Verbal stimming, for example. Not everyone likes to hear a constant stream of odd noises. I get that. It makes my brain rattle sometimes. So yes, I try to help him moderate those.)

But still, even subscribing to the idea that autism is representative of neurodiversity, I wanted to know why. Because autism isn’t always easy—for us or for him. He gets so upset and frustrated when he doesn’t understand things, and some of what he doesn’t understand is, I believe, related to autism. Social cues, for example. He’s getting much, much better at reading those, but they were definitely a struggle for him. And that would frustrate him and upset him, and it wasn’t easy for him. And I don’t want his life to be hard, so I guess I wanted to understand why—why was he born with a brain that sometimes makes things challenging for him? What made it that way?

And 2p16.3 microdeletion gave me an answer. It’s not a definitive answer by any means—it is thought to be just one factor that potentially predisposes a person to autism. But it was an answer—something I could look to and answer that why. So in that sense, it gave me peace.

But it gives me worry, too. Because it’s genetic (and we know Theo’s is hereditary—it wasn’t a random chromosomal glitch), and so Theo’s future offspring have a 50 percent chance of inheriting it. (In case you’re wondering, it went 50/50 for us—our kids had a 50 percent chance of getting it, and one did while the other didn’t.) If Theo chooses to have children, it is certainly something he will have to consider. They could be born without the deletion. Or they could be born with the deletion and show no effect from it. Or they could be born with the deletion and show minimal effect from it (as I consider Theo to do). Or, God forbid, they could be born with the deletion and suffer terribly from conditions related to the deletion—or even die.

So while I can try to embrace autism as neurodiversity (and I say “try” because I’d be lying if I said that as a parent, it wasn’t sometimes very challenging) and as a positive part of what makes my son who he is, I can’t fully embrace 2p16.3. Because it could someday cause him a lot of sadness, and that would break my heart.

If I had a crystal ball and I could see that his future offspring wouldn’t suffer, then yes—I could welcome 2p16.3 with open arms. Bring on the uniqueness! But I don’t, so I can’t. I can wait cautiously with breath held and hope that he is as blessed as we are, and that his future children live just fine with the deletion, if they even inherit it.

Or hey, he could decide kids aren’t for him, and that’s okay too. So really, it’s silly for me to worry this far ahead. But I do.

As for Theo right now, here’s what I can tell you:

  • He loves Star Wars and Harry Potter.
  • He loves social studies, recess, and music class at school.
  • He hates math and isn’t an overly enthusiastic reader.
  • He’s obsessed with the TV and movie rating system.
  • He’s determined to “stick it to the man” whenever possible.
  • He’s a total perfectionist—to the point that it makes him very anxious. Which makes me rather sad for him, because it’s no fun to be anxious.
  • He’s the funniest person I know, no doubt. And he doesn’t even mean to be.
  • He’s also one of the smartest people I know.
  • He’s probably going to do crappy on standardized tests. Ask me if I even care…
  • He has two girls whom he’s currently choosing between as to which one will be his future wife. He’s having trouble choosing because “they’re both very nice, Mom.” And I’m delighted to see that apparently “nice” is his top criterion for choosing a wife.
  • He loves his little brother. The other day he “tattooed” Sam’s name on his hand because “Sam’s my best friend.”
  • He has an incredibly soft heart for our kittens. We had to shut the power off the other day, and he insisted on cuddling them while we did because “they’ll be scared, Mom. They’ve never been through a power outage before!”
  • He really, really, really likes to talk. Sometimes it makes my head spin.
  • He will argue anything. The other night we got in an argument over the fact that you start reading a book on the first page. No joke.
  • He can drive me batty.
  • He can also make me laugh harder than another other person I know.

So there you go: my long-winded take on 2p16.3 and what it looks like in my son. I can’t speak to what it looks like in anyone else because it seems to be so different in everyone. But it certainly has created a unique, smart, hilarious, sweet little boy in our house.

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