In the world of intellectual disability, these days the polite way to refer to a child who does not have a disability is “typically developing.” Obviously, “normal” isn’t particularly polite, because it implies that children who have a disability are abnormal, when in reality they’re just not developing typically. So Sam is my child with special needs, or with an intellectual disability, or with Down syndrome, and on the other hand I refer to Theo was my “typically developing” child.
But the reality is that Theo has never been all that typical. He’s always been kind of “autisticky,” though it’s always been sort of a guess as to whether he really is on the spectrum—even in the minds of doctors and specialists. They refer to him as having autism because they assume he does (and indeed, many factors point to that), but they readily admit that they’re not quite certain—something just doesn’t quite add up.
That’s how it was when we had him assessed at almost age 4, and that’s how it was when we had him reassessed earlier this month, at nearly age 7. Again, he earned a classification as on the spectrum (autism spectrum disorder, level 1, if you want to be specific), but again they told us it was pretty borderline, and the pieces weren’t quite adding up. They also added that if we didn’t mind, they’d go ahead and do a routine genetic test, which they always recommend as part of an autism screening. “We don’t expect to find anything,” they said, “but on the off chance that we do, it can be helpful to know what’s going on.” So we gave our consent and went on our merry way.
I was so sure that nothing would turn up that I had actually completely forgotten we even had the blood draw done. So on Monday, when I received a call from Dr. F, I was surprised to hear him calling, and I immediately assumed he was just calling to check in and see how Theo was. Except he wasn’t…
Instead, he was calling with some very surprising news: Theo’s genetic screening had turned up something very unusual. So unusual, in fact, that he didn’t feel qualified to explain to me. He’s a really nice man, so I felt comfortable pushing a bit. “Come on,” I said. “You can’t call at 5pm and freak me out with news like that and not at least explain a bit more what you’re talking about!”
He agreed, and after a dozen disclaimers about how he’s not a geneticist and I really needed to talk to a geneticist, he said that Theo was missing genetic material on Chromosome 2, but that it was such an unusual deletion that there really wasn’t much information at all about it. I pushed a bit more, and he said it was known to be possibly associated with autism, developmental delay, and schizophrenia.
At that point, I totally panicked. Autism, fine. I can deal with that. We know what that looks like in Theo. Developmental delay—please. We know all about that over here, thanks to Sam, so it didn’t worry me. But schizophrenia? That was a whole new beast and one that scared the life out of me.
I hung up the phone and burst into tears. And then, as I generally do, went into research mode. Only I quickly learned that “chromosome 2 deletion” tells you very little, because there are a ton of different Chromosome 2 deletions, and they all manifest differently in every person.
I spent the next 20 hours trying to keep calm but dying for the genetics department to call me. When they finally did, I got more information. Theo has a very specific deletion called 2p16.3 microdeletion. And it is indeed extremely rare—so rare that there’s not much information on it. And yes, it’s thought to be linked to autism, developmental delay, and schizophrenia, as well as seizures (50% of people with this chromosomal deletion suffer from seizures, so that’s actually probably the biggest area we need to keep an eye on). But the genetics counselor cautioned me against worrying: The sample size of people with this particular microdeletion is so incredibly small that it’s very hard to tell what is linked to it and what is just a coincidence. We’ll learn more when we meet with the geneticist in April, but even then, there’s just not much to know.
I understand what the genetics counselor means, but at the same time, it’s really hard not to panic when you’re wondering what this all means for your child. I needed to know more, so I joined an online support group for parents of kids with chromosome microdeletions. And I did some more researching on my own. Through that series of events, I “met” a few other parents whose kids have this particular 2p16.3 microdeletion. I also “met” a man who has it himself—and it never affected him. The only way he found out was when his three-year-old daughter died from complications related to it, and he and his wife underwent genetic testing.
What I’ve found out is in some cases heartbreaking (like that man losing his beloved daughter) but also fascinating and helpful…and even a little heartening:
- This is indeed quite rare. So far, only a handful of people in the world have been identified as having it. One number I saw said 21 people are known to have it worldwide, but other data I read suggests that the number may be a little higher. And honestly, not many people have a genetic screening; if everyone did, I’m sure we’d find more people with this. But regardless, it seems to be pretty rare, and thus there’s not a whole lot of information about it.
- Many people identified with it seem to be much more affected than Theo. It’s thought that this microdeletion can be “expressed” in varying degrees, and so far it seems as if Theo’s is relatively minor in the grand scheme of things. Several of the people I talked to have children who have struggled much more with speech and motor development than Theo has.
- This may have been inherited from Chris or me, or it may be a complete fluke that simply occurred in Theo’s genetic makeup. Chris and I are being tested just to see whether it was hereditary or just a fluke with Theo.
- Because the sample size of people with this is so small, it’s hard to tell whether it “causes” a particular condition or whether it’s just a coincidence that some people who have it happen to have a particular condition. That seems to be the case with schizophrenia, which was the “symptom” I feared most. Yes, they’ve seen this chromosome microdeletion in schizophrenics, but very rarely. I believe the statistic was something like in 4,000 people with schizophrenia, one had this deletion. That’s a pretty darn small number, so I’m feeling a lot more comfortable about it.
- There are some conditions described as potentially being associated with this microdeletion that do fit with Theo—and maybe fill in those missing pieces in the puzzle:
- Reflux problems as infants. Those of you who knew Theo as a baby know that he was extremely fussy. As in, pretty much screamed or cried the first four months of his life. In retrospect (even before learning of this genetic issue), I don’t understand why his pediatrician didn’t treat him for reflux. Nowadays they seem to treat so many babies for reflux, and I do wonder if they might be over-treating. But in Theo’s case, I wonder why she didn’t. He was really, really fussy and had issues with all kinds of formulas and breastmilk. Nothing we did seemed to help very much.
- Autism. Well, yeah. We know he earns that diagnosis. And even if he isn’t really very far on the spectrum, he certainly has some autisticky traits.
- Motor delays. He never had many gross-motor problems (although I do recall being somewhat annoyed by the fact that I was supposed to worry that he didn’t jump on two feet by a certain age), but fine motor has certainly been more of a challenge. He’s made huge improvements in it, but certain fine-motor tasks (ahem, handwriting!) don’t come easily. He still doesn’t use utensils very well, and that was mentioned as a common issue in kids with this microdeletion. (At last, maybe I don’t have to feel like a failure parent because my kid isn’t very good at using a fork!)
- Speech. He was the tiniest bit on the late side with verbal speech. Not terribly, but a little later than some. Nowadays, that’s clearly a strength for him. 🙂
- Learning disabilities. It’s been brought to our attention that he may have a learning disability where visual-spatial tasks are involved. And indeed, he has never really been able to do puzzles. I can see how he might be slightly affected in this area.
There are various other bits and pieces that I’ve seen in Theo, but those are the main ones. And it’s not as if it really makes a difference what causes it: If he has autism, he has autism. If he has a fine-motor delay, he has a fine-motor delay. But as a parent who has worked for almost seven years to try to help him in areas where he struggles, I feel the tiniest bit better, knowing that there may be an actual scientific reason behind all of this—it’s not just me or Theo not putting in enough effort, you know?
I went through a period of grief this week, feeling bad that I hadn’t been more patient on some occasions. Because honestly, some of the autistic behaviors can be very challenging to deal with every day. And I haven’t always been saintly in my patience, you know? And I feel bad, knowing that maybe he couldn’t really help it. But then I come back to the same old idea: It wouldn’t be doing him any favors for us to just give him a pass on behavior because “oh, he’s autistic, so he can’t help it” or “oh, he has this chromosome issue, so he can’t help it.” There’s a fine line between being patient when you know something is extra challenging for your child and being so patient that you don’t set high enough expectations for them, I think. And so I’m constantly walking that fine line…and maybe, now knowing what I know, I will walk it a little bit better. I recently read an excellent post touching on this very idea; click here if you want to read it. I cried a bit when I read it, because I could understand it so very well.
After three days of feeling as if I had been treading water but slipping slowly under the surface, I returned to the surface, took a deep breath, and moved forward. I pushed the looming specter of schizophrenia out of my mind, because that wouldn’t manifest for another 15-ish years even if it does, and I refuse to spend the next 15 years waiting with bated breath for something that likely may never happen. I reminded myself that knowledge is power, and knowing that there’s a reason why Theo may have some struggles in school and such is helpful—it can help us better know what to do if such struggles arise. And I reminded myself that nothing has changed: We’ve always thought Theo is one in a million; now we just know that’s statistically true as well. Or maybe one in 300 million. Or somewhere in between.
It doesn’t matter, because to us, he’s always going to be one in a million.