It’s never a good idea to put me in front of about 200 people on a Friday morning. I’m not to be trusted enough to take things quite seriously enough to present to our department. Especially when I’m distracted. Which I am a lot. And which I’ve been a super lot this week. Monday was our, and when I say “our” I mean our son’s neurology appointment. It’s always annoyed me when people refer to an individual thing as a group entitlement as in “We’re pregnant!” Oh hell no, the collective you is not pregnant, just the one of you with the uterus is pregnant–what you are collectively is expecting. Our son’s neurology appointment was Monday, and I’ve not yet been able to recover from the absence of information received (not received? is that a double negative?) there.
What did we get this time? We got nothing. We got a big, steaming bowl of precisely, absolutely, entirely not one thing. It would be accurate to say we now know less about his diagnosis than we did the morning of the appointment. They’ve not identified what he has; all we know is that he has SOMETHING. I said to the neurologist, “In January, you looked us in the eyes and told us our child has muscular dystrophy. In April, you looked at us and told us he had limb-girdle muscular dystrophy. In October, you confirmed the LGMD, and now in November, we (again, by “we” I mean “he”) need more testing.” (only I didn’t say to the doctor what I wrote in parentheses. Obviously.) “I hate that he has the thing, but the thing at least provided something predictive; at least the thing provided a path to travel.” I guess we’ve been rerouted. I’m a nervous traveler on this neuromuscular disease highway. I’m really more a point A to point B kind of gal. I focus on the destination, and maybe less on the ride. Sometimes my inner control freak reveals herself in ways I don’t anticipate.
Don’t misunderstand me–I’m not that big of an asshole that I was verbally going after his doctor. I understand that genetics is in many ways an exact science, but I also understand that individuals prove science wrong on an hourly basis–patients beat cancer, your uncle wakes up post-stroke with full, spontaneous recovery, women previously told they’d never conceive a baby become pregnant–I’m all about telling the odds to suck it. Maybe he has an uncommon type of LGMD. He most definitely presents as such, in that they hold steadfast. Had he not had the genetic panel, he’d be an LGMD patient, no doubt. If he has it, he has a very rare subtype, maybe he’d be like one of six or eight on the planet with that variation. OK. My baby is one in a bajillion, I could’ve told you that! Maybe he has a congenital myopathy in addition. OK. Maybe his muscles are not being adequately innervated. OK. Next question from the blonde (yes, we’re going with blonde these days) in the back, “So we walk out of this room today, and then what??” Well, there are three options.
Option A is to test the nerve-to-muscle connection through some type of electromyography. This diagnosis, they say, is the least likely to be the case, and the test is unpleasant. Not devastatingly painful, but unpleasant. No, thank you. Option B is to continue with a muscle biopsy. This is a day surgery where they remove a portion of his quadricep muscle and examine it for whatever it is they seek to find. It was my understanding that this will examine the cell structure itself, and maybe shed some light into the myopathy. What it will not do is suggest or provide treatment. There is no treatment; it only ever gets worse. See? That’s what progressive, neurological means. There is no clear benefit to doing the biopsy now vs. later. In fact, his physician suggested that if we’ve met our insurance deductible for the year, then this would be a good time. That didn’t seem like a super motivator to me. We have met our insurance deductible for 2015 because MD is stinking expensive thank you very much, but for now for the biopsy, no, thank you. The accuracy and specificity of testing is improving all the time, so the biopsy results might even be more telling in a year or two. Option C is to do nothing, to wait. His next appointment was scheduled for May. Between now and then, we are to monitor his functioning and to watch for declination, to monitor his ADLs (activities of daily living–you know, BEING A KID) and note which things become more difficult or frustrating for him. Oh, how I super love the idea of looking forward with a negative eye. Oh, how I wish there was a font capable of conveying my tone of voice. For now, we went with what was behind Door #3. They had nothing. We gave nothing. I’m not the most patient person in the world. You might’ve picked up on that.
So yesterday morning I presented to our department, but my prep was disjointed all week by my distractedness. In a way it was great. I never got up the “I wanna puke” feeling I sometimes do before presenting, and I was feeling just enough “meh” to throw random contraband pictures into my presentation. See, my stuff has to be approved by central administration staff like 49 pay grades above mine, so I have to really censor myself now. And yeah, it’s much more professional to sneak it in after the fact. Hi, I’m 12. I got up there and didn’t think too much; I think it went OK. People offered kind feedback, some thanked me, and one SLP for whom I have much respect and admiration said this: “There is one thing I can say about your presentation: You are really smart.” Wow. That particular piece of something was a good way to end my week of nothing.