I have this thing with my eyes. It isn't very common, and it took a long time and a lot of doctors to get diagnosed as a child. This didn't bother me much back then, because being a medical curiosity with a non-painful, non-fatal condition is sort of fun when you're young, and it hasn't bothered me much since, because, well, these are my eyes and I'm used to them, but it's bothering me right now.

My eye condition is one of the disorders collectively known as congenital fibrosis of the extraocular muscles (CFEOM). The eye muscles are filled with useless fibrous tissue, and so eye movement is very limited. I had ptosis (extreme droopiness of an eyelid), hypertropia (a type of misalignment of the eyes that looks like this), lack of binocular vision, one eye that wouldn't move above the midline, and one eye that mostly wouldn't move at all; the hypertropia, ptosis and limited movement got fixed after diagnosis, but the 2D vision is here to stay. CFEOM was traditionally diagnosed as a muscle condition, but later research has found associated issues with one or two of the cranial nerves (usually the oculomotor nerve), and the general medical opinion is now that it's a neuromuscular condition where the muscle problems arise from a neurological defect.

Following that? Sort of? Doesn't really matter. If you even read that, you're currently doing a better job than my GP, who is uninterested in reading my medical notes beyond a single word.

As far as my GP's concerned, my sole medical problem was hypertropia - a kind of squint - which was operated on and fixed. It says so in the computer summary of my records, after all! And when he went to get the paper file, clearly pissed off with my insistence that no, really, there is an underlying condition that caused that squint, as diagnosed by a paediatric opthalmologist at one of the world's best children's hospitals, no really it will be in my file go and look, what he read out to me was 'operation for hypertropia caused by congenital fibrosis of the extraocular muscles'. Which I think proved my point, but which he was equally sure proved his point, and we were left with him saying 'I think this 'fibrosis' thing is just the way they described your squint, but at any rate, you do not have an existing eye condition,' and me and my single contact lens blinking at him in bewilderment.

I promise you, internet, I am not making this condition up. Nor did I diagnose it all by myself with the help of Dr Google. I'm used to trying (and failing) to explain this to people, doctors and opticians among them, and I have a lot of experience of being a Mac user phoning tech support ('Okay, just click on the 'Start' menu...') and being a person with a difficult-to-spell name, which all comes in handy in such situations ('no, I can't see through both eyes - no, not even if I try very hard'), but not quite to this point. It was a strange, strange moment.

Also, a very annoying one. But you got that.

And the point of this is, the reason I was talking to the GP in the first place is that my eyes have started doing some weird things over the past year or two. Suddenly, bright sunlight has gone from being a minor inconvenience to being painful. I've started getting migraines, which I never had before. And in my reasonable sensible way, I thought, hmm, existing rare eye condition which is partly neurological plus photophobia plus migraine, eh? Maybe that's worth speaking to a doctor about. (Which of course I didn't, because I'm useless, but I did end up mentioning it to my mother, and she shouted at me, so I ended up going to a doctor after all.)

But my GP will not refer me to a specialist, because there is 'nothing wrong' with my eyes.

Sigh.

5 comments

  1. Laz Says:
  2. I second my own, original, recommendation. Even if it's against the rules.

    Complain to the Practise Manager.

    You were not operated on by the world's leading Paediatric Opthalmologist at one of the world's leading childrens' hospitals, 300 miles south of your home, because your parents fancied a day out in London.

    At the very least you should complain to the Practise Manager - your doctor just dismissed your symptoms of migraines and photosensitivity despite you already having a neurological condition, because he'd never heard of it.

    Imagine what you'd do/say if a doctor treated your child that way? Why would you accept the same?

    I think it was Dr Murdoch I used to see; try him.

     
  3. I would demand a second opinion, and/or complain. My sister has/d very similar issues with her eyes and, as a child, five operations for 'squints' before she was sent to a top eye specialist who said it was her optic nerve that was damaged.

     
  4. Autumn Song Says:
  5. That's very frustrating. And Eeek! In a way I hope the doctor is right - maybe it's just the culmination of working x-many jobs whilst doing a full-time PhD. It would make anyone's brain hurt! And now you've finally submitted the hard bound copy, the relief is manifesting itself in various forms of pain? It's unfair. Fingers crossed it passes.

    If it doesn't, see a different doctor.

     
  6. dance Says:
  7. Wow. Best of luck in getting a new doctor and getting to the specialist.

     
  8. Anonymous Says:
  9. Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals: http://www.accessdna.com/condition/Congenital_Fibrosis_of_the_Extraocular_Muscles/779. I hope it helps. Thanks, AccessDNA