Part 1: We meet with the assistant doctor (and med student/s, usually). Update them on the past 6 months worth of appointments, discoveries, progress, etc. Brief physical exam. I present the new syndrome that I’m eyeing, my reasons for suspecting it, and the test that I think we should do. (I feel like I'm pleading my case to a judge and resist the urge to take a bow when I'm through stating my case.) Maya wanders around the room, investigating, searching for things to open/close/rip/crumple/make a mess of.
Part 2: The doctors tell me that she doesn’t seem like a typical kid with Xyz syndrome. She’s too tall or too short, too nonverbal or making too much effort to become verbal, too high functioning (hey, that one was at least nice to hear), too stable on her feet (really? Really?) or whatever. I counter with “Yes, but I read that 10% of kids with xyz are able to walk independently, or that 80% don’t have cardiac involvement”, or whatever.
I resist the urge to throw up my hands and says “Obviously she’s not a typical kid with any syndrome . . . otherwise we would already have a diagnosis. She’s an outlier. Join me in thinking outside the box, won’t you?”
Part 3: “Ok, Mom, let me just go and consult with Dr. Hesincharge and we’ll come back to talk with you in a few minutes.” Door closes, Maya wonders what’s going on here. We play, and
Part 4: Dr. Hesincharge enters and reaffirms that Xyz probably isn’t a match, but we’ll run the test just to “cross our t’s and dot our i’s”. I am happy that we’ll run the test, just to check. Then he says “So, after this test, there’s really not much that we can do here.”
I deflate a little, and the deflation surprises me.
Did he just break up with us?
Dr. H: It’s not you, it’s me. There’s just nothing else that I can bring to the table here.
Me: Uhhhh. You’re, like, the doctor. We need the doctor. You’re supposed to diagnose things. You can’t just quit on us. Shouldn’t you be trying to piece clues together and read research papers and solve our mystery?
Dr. H: All of the broad screening tests have been run. I’ve done fancy test #1, fancy test #2 and even fancy test #3! Then you wanted me to do test #4---even though I didn’t think she had Abc syndrome, so I did. And now you want a test for Xyz, so I’ll order that too. But there are, like, a LOT of other letters. Clearly we can’t test for all of them. And I could make you keep coming back once a year for physical exams, but I’ll be honest, I just have no clue. So really, why keep up the charade that I’m actually providing any diagnostic care?
Me: Ummmm. This relationship really can’t be that draining for you. Remember, I’m the one doing the legwork and the research? But you have the fancy bloodwork forms, and the lab, and the hospital. I can’t order the tests without you, man. Don’t give up on us. In a few months, I’ll start to wonder again. And I’ll start to google. And I’ll need your hospital lab and your bloodwork pad again.
Dr. H: (Sigh). Well, ok. I guess if you need me, you have my email.
Me: Thank you. That wasn't so hard, was it? And by the way, doctors shouldn't break up with patients. Talk about literally adding insult to injury. Sheesh.
That may be a dramatic elaboration, but the vibes in the room were similar. “There’s really nothing else we can do here” is the doctoral equivalent of “It’s not me, it’s you”, I think. (Although clearly, it’s not us, it’s him.)
And I thought I really liked this doctor, too. He seemed like a guy who would sink his teeth into the mystery of undiagnosed-ness and analyze all of the puzzle pieces with me, trying different things to see what fits. But now I’m alone again. Just me and the medical charts.
So I guess after the results of this test come back (3-4 weeks, but I’m not getting my hopes up) we’ll probably be done with Dr. Hesincharge. We’ll settle into preschool routines and enjoy the fall and I might not even think about genetics for a while . . . but when I do, we’ll go back to the first geneticist that we saw (who was very nice, but also not very aggressive). While he may have been a little more relaxed and slower to test, at least he hasn’t given up on us yet.