Posted by September Blue Thursday, 6 November 2008

"I thought you weren't doing the genetics test."
"No, I was going to think about it. And now I've watched Heroes and I've made up my mind."
"I don't think you're taking this very seriously," says my mother. She might have a point.

As well as the geneticist, I have appointments with a neurologist, an orthoptist, a hospital optician, and the ophthalmologist who sent me on to all the above, as well as the contact details for a vision impairment place that might be able to give me some useful advice for dealing with photophobia (if we were living in a parallel universe where I actually contacted them). The orthoptist has already seen me once and I don't know what she's still doing on the list, except that for most of that appointment she was fascinated by my condition and asked me questions I couldn't answer about precisely what they'd done in my childhood operations to deal with it so well, so maybe she's just curious and hoping I'll be able to do better than "Um... something with the muscles, I think?" in the future. (I won't. I don't know what they did. But in my defence, I was four years old and under general anaesthetic at the time.)

Plus, I'm not doing badly. I haven't had a migraine for a while now, and while I feel like a bit of a dork wearing sunglasses in November, I can't be doing that badly if feeling like a bit of a dork is the worst part of it. So maybe I'm not taking it too seriously, but it doesn't seem too serious. Certainly not enough to warrant the variety show of medical professionals it's getting, anyway. Right? Right.

(And then I remind myself that the variety show comes because there is possibly something wrong with my brain, something that might well be getting worse, and I feel very serious indeed.)

The ophthalmologist said it was obvious I'd spent a lot of time in hospitals, and I can guess why. The tests haven't changed much in ten years, and none of them bother me; shine bright blue lights into my eyes, put my face in a metal frame and crank another light closer and closer and closer for whatever strange Orwellian purpose that machine has, tap my eyeballs with cotton-buds to test their reflexes, and I smile happily and sit still. The exception is eye-drops, but these days instead of throwing myself to the ground and screaming in pre-emptive pain I look suspiciously at the nurse and say "Is that atropine? I hate atropine," and she tells me she's sure I'm used to it by now. The ophthalmologist said I had a very sensible approach to all this. I didn't make any Heroes references with him, but I must have seemed pretty relaxed.

There are downsides to seeming relaxed in such environments. When you seem confident enough to trade jokes about being somebody's ideal publication before you ask for a layperson translation of the line he read out from the Great Big Book Of Weird Eye Stuff, you probably shouldn't be surprised when the answer's "It means that possibly part of your brain is missing." And several minutes of "Oh, no no no! Not in a bad way! It's not a new thing, you have a PhD, it's obviously not affected you that badly!" later, my heartrate had almost returned to normal.

And then he talked to me about the different variations of my condition and the hereditability of said different versions, and I got confused again and said "So, wait, if mine might be autosomal dominant, what does that mean?", and he said "Oh, it might be like Huntington's," and then I hit the ceiling with enough force to ricochet across his office. ("No no no! It's okay! No! I don't mean it's like Huntington's, it's not like Huntington's, it's just the pattern of how it's inherited that's the same, please can you climb out of that drawer now?")

But the facts remain. My condition is sometimes accompanied by wider deformities of the central nervous system, and these come in many different flavours, and they are so varied and the condition is so rare that there's no pattern to follow. It's possible that my migraines and photophobia are connected to that, and it's possible that they're not. The doctor did reassure me that pressure to publish is still pressure to publish in the medical sciences, so people are going to write up the weird and unusual cases disproportionately, etc etc etc, but my condition is weird and unusual enough as it is and he's not immune to the lure of that. By the end of the appointment, his desk was covered in abstracts and articles he'd printed off to show me while I was waiting for the atropine to do its work, and he was pointing out various interesting things this condition has done to other people. "Learning difficulties - well, you're okay there!" he says happily. "And these hand abnormalities! Have you seen these? And see, more CNS things - gait ataxia, brain stem atrophy -"

We look at each other.

"- I'msureit'sveryrare."


Probably I'm fine. Probably the worst I'll ever have to deal with is looking like a bit of a dork in sunglasses when it's November. Probably nothing's going to get worse. But if I have to go through all this hassle all the same, I should get to make jokes about living in a world where rare genetic conditions mean that you can fly.


  1. Autumn Song Says:
  2. Don't forget that these genetics-related super-abilities don't always manifest themselves until well into adulthood. Your ability to climb walls / spin spider webs / read minds / freeze people / fly / manipulate time and space is just yet to be revealed.


  3. Francofou Says:
  4. If moral support came in little boxes, I would send you one each day.

  5. Francofou, :)