Saturday, 6 April 2013

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.

34 comments:

  1. *HUGS*

    You could take a class and become a phlebotomist and save them the trouble...at least you'd know you were doing it right.

    BTW, a friend of mine trained as a phlebot with someone WHO WAS AFRAID OF BLOOD. Needless to say, that gal didn't come back after passing out on day 1. I wonder what kind of career counselor sent here there.

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  2. I know a little about lupus only through another lovely blogger "Desperate, Reluctant Housewife" but not about Marfan so had to google that! Oh dear!

    GOOD LUCK with all the tests. I hope you get to have this genetic test done. I'm always for knowing with certainty so I may prepare myself and move on!

    Take care
    x

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  3. It's horrible having tests for something they can't even do anything about. I've got Ankylosing Spondylitis and they made me do all sorts of test, to then just turn around and say "Well, nothing we can do. Here have some pain management drugs". Couldn't they have just given me the pain killers at the start and saved us all the time and effort?

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  4. I hope you get answers soon. The not knowing must be awful

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  5. That annoys me a little Damien because I feel like you were in the belief that this appointment would definitely lead to you finding out if you had the disease or not. It's very disappointing that they slapped you with the inconclusive result after you wanting it to come to an end yesterday but just keep on fighting buddy, you'll find out soon and hopefully results will be positive!

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  6. If I remember right it was only Lupus that one time. So as much as I want to say it's never Lupus, it was once. It really is a shame to hear the tests were inconclusive. I'd question why they even performed the tests if they needed a genetic one to be sure but I can understand if they're swamped and they need to prescreen people. It might have been nice for them to tell you that. I hope you can find your answers soon.

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  7. Sucks indeed in everyway, idiots still have no idea what I got, so good luck. Although if you have all these things, it may not be what you think, type in Humaworm in google and have a look.

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  8. I hope all the tests come back negative and that you get a clean bill of health!!

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  9. Keep testing until they can give you a definitive answer! Good luck.

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  10. Seriously??? How awful not to get an answer. I'm sorry!

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  11. I have lupus too and should be taking pills, but I can't seem to force myself to do it :)
    And we have another similarity - when I had my recent 5 hour surgery I also didn't tell anything to my family until the very last day, and then I went there and came back by myself.

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  12. Not knowing is the worst. Hope you find answers soon.

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  13. I've never heard of this syndrome before but at some point you'd have to tell your parents. In Jan they found some precancerous cells in me and I too, haven't told my parents. I guess at some point I will have to.
    Yes. Hate those nurses who prick you endless. Urgh.
    Take care of you.

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    1. Say it ain't so, Jaya J. And now what?

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  14. The worst thing about taking the bus?
    Bus people.

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  15. really hope that nothing serious will come out of those tests...

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  16. I know what you mean, getting stabbed several times before blood is withdrawn. Ia m sorry. I just it is smooth for you this time. You do need to find out so you have peace of mind. Hang in there.
    City traffic or suburban - - traffic in general blows.

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  17. It's amazing how many nurses and doctors who DO suck at taking blood, huh. I hope you get a conclusive diagnosis soon.

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  18. Not knowing... What could be worse? Well, let's not even go there. I am terrified of needles ans every time a nurse want to grab my arm I have to force myself not to strangle her. I mean, she's gotta make a living too, right. And traveling by bus.... I'd rather walk.

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  19. I feel for you...i just wish that everything is going fine especially for the result.

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  20. Ugh, that is SO frustrating! Hope you get an answer soon...

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  21. Well, I can definitely feel your pain, but on a much lesser scale with my own recent doctor woes. I don't know why it's always so hard to get a definitive answer, but I hope you get it figured out soon so you can start treating the symptoms in the most effective way possible.

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  22. I don't know much about this disorder but have you in my thoughts...hopefully the tests come back conclusively and everything is fine...*fingers crossed*

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  23. Vampires would be better taking blood!

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  24. I was at the hospital last Friday too for asthma test...kinda not enough symptoms to officially diagnosis me but till enough for a medication routine. I hope you get to see 1 of those 2 specialists. Yep the bus sucks everywhere.

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  25. I hope you find out for sure soon!

    The people taking blood almost always do the same thing to me as well. There was one nurse at a hospital where I stayed who didn't and I wanted to thank her so profusely.

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  26. You mention lupus, but you also fail to mention any other curable possibilities. I'm sure there's one or two in there. I know things look grim, but look at any potential good too. Does a human wonders.

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  27. Gosh, I'm sorry you need to continue testing. That stinks.

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  28. nice photos
    last one with eyes nice selection

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  29. cute cat, but on a serious note i hope you get diagnosed soon, it cute tat your mum worrys and considerate that u try not t worry her :)

    also (just a comment abt the post u linked) one of my friends has no sternum so he has a indentation in his chest, he likes to pretend to punch a dent in himself when he meets new people, their reaction is always so funny

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  30. Tch,I understand how sucky that could be! Hope you get an answer soon xx

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  31. I don't think you have marfans disorder. just drink some maple syrup and smoke some pot and all is cured. ancient canadianese secret, brah.

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  32. public transport is awful outside the major cities. My city bus routes are terrible and slow. If you don't have something in your route, then you don't go to it.

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