The Specialist's Diagnosis

I've discussed in previous posts how I might have Marfan's syndrome, a genetic disorder that I appear to have many of the symptoms of. A few months ago my doctor booked an appointment with a specialist to see if they could make a more conclusive diagnosis.

And remember, even if it turns out I have Marfan's, there is NOTHING they can do for me. There is no cure, and all they can do is manage the symptoms.

Kind of like how there's nothing they can do to make this cat look less ridiculous.

Let me begin by saying I hate the public transit in my city. The buses are rarely on time, the online trip planner is inaccurate, construction on the roads creates congestion and moves stops around, the people on the buses are usually really questionable.

Oh wait, I think I've described public transit in almost every city.

My point is, I hate busing. And I refuse to tell anyone in my family about these appointments because my Mother is just going to worry non-stop over something she has no control over so let's keep her out for now. But this means I can't get a ride to the specialist and I need to go at times where I can claim I'm on Campus or something.

And if I miss my appointment, it's going to be another few months until another opening pops up that I can take. I need to catch all the buses, at the right times, in the right order, etc. etc..

Or chase after the stupid thing.

Luckily, I somehow managed to get all the transfers correct on the first try and made it to my appointment with time to spare. The specialist examined me, asked a ton of questions, examined me some more and gave the following diagnosis:

"Inconclusive".

Turns out, the only way to definitively know if I have Marfan's is if I get a genetic test done. But only 2 people in my entire province can do it, they're heavily booked, and if they don't think you have a good enough case to perform the test, they'll just turn you down.

But here's where it gets a bit more interesting. Another reason why the specialist said things were inconclusive was because I might just have a disorder that's similar to Marfan's. There's a name for these class of disorders but I can't remember it.

But because I have such a range of symptoms that partially match up with various disorders there's only one thing they can do, more tests. He sent a letter of recommendation to see if they'll consider doing the genetic test on me. In the meantime I'm going for more x-rays and more blood tests.

Oh, and the funny thing, one of the possible disorders I have might be lupus.

House would be amused.

So, off to get more tests, wait for the results to get back, and we'll go from there. And I don't mind going for blood tests, I just hate nurses and doctors who suck at taking blood and need to stab me 50 times to get it done right.