Last Tuesday evening (the day we got Koan’s diagnosis), I got home — super excited to actually talk to Jeri. We had mailed and texted but not actually conversed about Koan’s new diagnosis. I came in through the garage into our kitchen. Jeri was near the sink getting supper ready and Koan was in our connected great room scooting about as usual. The tv was on and tuned to some random Food Network show that Jeri will often turn on for white noise. Koan does not like “kitchen sounds” metallic clangs, etc… The tv helps cover that sort of thing up. We started a having a really fast, high-level conversation and mini-celebration on the spot. But, as normal, Koan did not wish to be left out. So, again, as he so often does, he began to talk to us at the same time. Soon, amongst Jeri and my conversation, the tv, and Koan singing, it was really hard to make sense of anything. There was a cacophony of sound that made it super hard to make sense of anything being said.
Koan is not the only person in our family that has had an IEP (Individualized Educational Plan — the documentation schools use for special ed services). I’m a diagnosed dyslexic and received special ed services throughout most of my K-12 experience. It’s really not much of a hindrance anymore except in a couple of ways. The main manifestation that still causes me to struggle is that I have a lot of trouble sequencing letters or numbers — spelling has always been a challenge for me — particularly if I need to do it out loud. Throw in the sensory clutter from the tv and Koan and for the life of me, I could not get the correct sequence for Koan’s diagnosis when talking to Jeri. When I complained about this, Jeri said, “Oh, that’s easy — Koan Can Not be Quiet, too.” It took me a second to realize she was not commiserating with me, but rather that she had already come up with a totally apropos mnemonic. It’s not perfect, but it makes it super easy for even my dyslexia-addled brain to process every time — Koan Can Not be Quiet, Too — KCNQ2.
Aside from the ongoing excitement, there’s really not a lot new to report. We have two appointments scheduled, both on May 9th, at the University of Iowa Children’s Hospital — one with neurology and one with genetic counseling. We are hoping to learn more about KCNQ2. I also suspect that we’ll also transition Koan to a new family of anticonvulsant, too. There also continue to be small, but powerful delights related to this news as well. For example, I just found out there’s a national caregiver/family and treatment professional summit for KCNQ2 on September in Anaheim, California. That’s a really terrible time of year for us — the start of school. But, it’s still really, really cool to think there’s a national group that is working on our specific cause. Awesome!
I’ve also realized how thankful I am for this particular diagnosis. There’s so much good news it holds — the de novo mutation (no one in my family needs to worry about this), there are no latent, hidden symptoms or problems waiting down the road, etc… In addition, and I didn’t realize it until I found out the label — this particular diagnosis means that Koan is Koan. I would have been just fine with an Angelman diagnosis. But, with KCNQ2, we know that all of Koan’s smiles and his (mostly) cheery disposition are all him — not a genetic predisposition. That’s a pretty cool revelation all by itself and makes the diagnosis an even more powerful gift.