When Mika was first diagnosed with Asperger’s, I set about doing two things: (1) fixing her; and (2) figuring out what I/we might have done to cause it. Neither task went well...but both, I think, are common reactions to finding out that something is “wrong” with your child.
The fixing her thing is a story (many, many stories, actually) for another day. Today’s topic is finding the cause of her autism. You may already be guessing that I never did, because of course, science itself hasn’t found a cause. It may or may not be genetic, it may or may not be evolutionary, it may or may not be a hundred thousand other things that probably won’t even be identified in my lifetime because the brain is so complex and new to us.
And you’re right. I did eventually (after years of research) give up on finding the reason behind my daughter’s autism. Partly because I realized there were no answers, and partly because I was driving myself mad with guilt...but mostly because it didn’t matter. It didn’t change anything. And it wasn’t helping Mika.
At least, I thought I gave up on the idea of a cause.
But somewhere in the back of my mind, it seems, my subconscious hadn’t quite let go. When Mika returned home from school last year, she mentioned something new to me: a tremor in her right hand. She’d had it for as long as she could remember but hadn’t said anything before because she thought it was normal. It had, however, gotten worse at school. Given that she was deeply traumatized by the whole experience, we chalked it up to anxiety and took a ‘wait and see’ approach. Then, one day in the late autumn, something called Fragile X Syndrome popped up in my Facebook feed on a neuroscience page that I follow—and its signs and symptoms included autism and hand tremors.
Little bells immediately went off in my brain (which apparently wasn’t as free of cause-finding as I thought), and I scheduled an appointment with our family doctor, who referred us to a genetics clinic at the local children’s hospital. We settled in to wait...and wait...and wait for an appointment.
Fast-forward to mid-January, and our meeting with a lovely doctor by the name of Melissa Carter, who talked to us for a good hour before telling us that she was almost certain Fragile X was not involved. She sent us for DNA testing anyway, however, and then we waited some more.
Two months slid by, during which time Mika’s tremor grew steadily worse. She has difficulty drawing (her potential career is video game art), writing, getting food from the plate to her mouth, holding a glass, and carrying or pouring anything. We’ve observed that the tremor is worse from anxiety, but not caused by it—and that a great deal of anxiety is actually caused by the tremor, leaving her caught in an unending loop. With still no word back on the DNA tests, we scheduled another appointment with our family doctor to discuss seeing a neurologist.
And then yesterday...results.
It turns out that Dr. Carter was right about there being no Fragile X. Instead, however, something unexpected has showed up. Mika has what’s called Triple X Syndrome (also called Trisomy X or 47,XXX), which means she carries an extra X chromosome in her cell. And according to the research Dr. Carter encouraged me to do online, it explains everything. From the autism to the short-term memory deficit to the learning difficulties, from the phantom stomach aches she’s suffered all her life to her poor muscle tone and her dental problems...and yes, even the tremor in her hand.
I’d been so certain the tests would show nothing that I’m not quite sure how I feel about the diagnosis. I’m still processing the news, I think. We’ll be meeting with Dr. Carter in a few weeks again to go over what all of this means for Mika—what will change for her and what will remain the same. There is no miracle cure for any of this, of course, and the autism will always be a part of her. But where she stubbornly refused any kind of therapy in past, discovering that there’s a concrete reason behind her autism seems to have flipped a switch in her brain.
Anxiety and stress are enormous factors in Triple X, and they’re lifetime issues—knowing that, she’s considering the possibility of counselling. The poor muscle tone that’s made her reluctant to exercise in past can lead to heart problems in women with the syndrome—so she’s thinking about being more active, too. And that short-term memory recall problem? Yup, she’d like to talk to an occupational therapist to learn some compensation techniques.
Where will all this take us? I have no idea. As with all journeys, we’ll still be moving forward one step at a time—no matter what direction we take. In the meantime, I’m going to have my coffee, get on with my day, and continue to do what I’ve learned works best: support my daughter in any way that I can.
And besides, as one of her sisters pointed out to Mika, if you have to have something, at least having it called 'XXX' is pretty badass. ;)