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Saturday, 29 March 2014

Mystery Hospital Appointment

"Insert a witty and relevant quote here."
Sara Bloo

I don't think I mentioned this before, but a few weeks ago I received a letter saying I had been referred to a Clinical Geneticist and it asked me to make an appointment. I was a little confused as it didn't say who had referred me or what it was in relation to. I was further confused when I made the appointment and when the appointment letter arrived, it said the location was at Action Cancer House in Belfast. Rather than in the actual City Hospital. I had initially assumed my Muscular Dystrophy specialist had referred me to genetics to see if I could be properly diagnosed. Although I was diagnosed with Congenital Muscular Dystrophy when I was three, I'm now technically undiagnosed as CMD is just an umbrella term for a collection of muscle wasting conditions present at birth that they hadn't properly isolated. Since then they have determined different types within the CMD umbrella and so I guessed it was in relation to that. What threw me was the fact it was at Action Cancer.

We rang the hospital and they told us as I'd thought, that my specialist had in fact referred me and just hadn't bothered to mention it. It just so happened that Action Cancer House was the only place they had to hold the clinic. Apparently a lot of people had been ringing, wondering why they'd been referred to Action Cancer too.

Today was the appointment. I was still a little apprehensive about going, because even though they'd confirmed it was in relation to my MD.. I still felt weird about it being at Action Cancer House. I don't know, I guess it was a bit irrational. I was also nervous because if they were going to say they had to do a muscle biopsy to be able to diagnose me, I wasn't sure I wanted that. It felt like a big thing to go through, just to have a label slapped on me. A diagnosis wasn't really going to change anything, but at the same time.. it also felt like a big thing to opt out of.

My 'I don't want to go to this appointment' face before we set off on the journey to Belfast.

My dad and I set off around 2pm, and the appointment was at 2:45pm. Gosh, the journey was rough. Back in October I got my first wheelchair accessible vehicle and for some reason, the motion whilst sitting in my wheelchair doesn't agree with me sometimes. When we got there, we didn't have to wait too long to be called. I was a little relieved when it turned out to be a doctor I recognised. 

This is me signing the book I was in with two doctors from the muscle clinic I attend. The doctor in the background is the doctor I seen today. I must be about eight or nine here.

Although I recognised him, he didn't seem to recognise me. I guess I don't make a big impression on everyone I meet. We went into a little doctors office and finally he filled me in on why I was there. Apparently my specialist had sent some of my muscle to England for some tests. He asked if I'd had a muscle biopsy recently and I said no, the only muscle they would have from me would have been from before I was diagnosed. I couldn't believe they STILL had my muscle from 20 years ago! Isn't there like a use by date on that kind of stuff? I guess not. To be honest, he was speaking really quietly, like he was telling me a secret. So I could barely make out what he was saying, but from what I could make out they found something abnormal to do with collagen in the muscle. I've always suspected I had a collagen deficient type of Muscular Dystrophy and figured that's why I my skin is so fragile and doesn't heal well, I have arthritis in my hip and my other joints feel like they've deteriorated. Basically he wanted to take a blood sample and send it to England to have them check it in relation to the collagen. I'm not actually sure what they were checking for specifically, because he was talking to quiet.. but the gist was that they'd check to see if I had a collagen deficient type of MD and that would take one to two months. He said it was possible whatever they found in the muscle was just a one off or something. He also told me the test they'd be doing on my blood cost over £1000! And to thank goodness for the NHS. If it turns out that the test shows nothing, he said he will then try and persuade them to broaden the scope and test for all the other types while they have my blood there.That could take five to six months because he said it was basically like trying to find a needle in a bunch of haystacks. So in one to six months I may be diagnosed, but he also said there's a chance it could turn out to be none they've isolated so far. I think the chances of me being that unique are slim though. 

I wasn't going to bother asking, but my dad asked if I was diagnosed was there any treatments or anything available. The doctor replied "Oh well, that IS the question! ...No, not yet." Which is what I figured anyway. All being diagnosed will really do is give me a proper label, and possibly give me more of an idea about how things might progress. I'm not sure how I feel about the latter though. I tend to stay away from predictions, because doctors get things wrong a lot. They told my parents I had eighteen months to live when I was twelve and here I am typing this at twenty three. Longest eighteen months of my life! Though he did say a diagnosis might be able to tell us whether there's a chance my children could inherit it. Which I've always been told wouldn't happen, but there was a possibility my sister's could carry the gene and their children could be effected if the father was also a carrier. Both parents have to carry the gene for a child to be born with CMD, but not every child born to carriers will have CMD. I have two able-bodied sisters. In relation to me though, it doesn't matter. I'm not planning to have children anyway. 

So yeah, I was brave and agreed to the blood test. I'm historically not very good with needles. As a child I was a kicker, kicking any nurse that came near me. I've opted out of so many vaccinations, despite being one of those people with underlying illnesses who is urged to get every vaccine going. I've got a lot better in the last couple of years though. My method of coping is looking away and imagining it's my cat Findlay clawing at me. I don't know why that makes it better, but it works. He tried in my left hand first, which hurt a lot and he didn't get any blood. I'm incredibly difficult to get blood out of, but the right hand wasn't as sore and he was able to get blood from it. I was surprised at how dark the blood was. There was a trainee in the room, who sat quietly in the corner. She made a lot of sympathetic faces when I was having blood taken. 

My 'I got blood taken and it hurt' face. You can see the minuscule little speck of  blood where the needle went in. 

All in all, I was only there for about ten or fifteen minutes. Not bad really. Now I guess I have to just wait and see what comes back. I still feel a little weird about getting diagnosed. For the last almost twenty one years I've had the label Congenital Muscular Dystrophy for my disability. I'm used to telling people about it and what it is and how it effects me. And a name seems so unimportant, but it doesn't feel unimportant to me. It feels like a big change to have to get used to telling people I have x type of Muscular Dystrophy, and learning what that specific type means. I've never been good with change, and I guess it feels a bit like ignorance is bliss. Still, change isn't always bad and I will get used to it. I just hope I get one with a cool name, because I have great priorities!


  1. i am a 40 year old man who uses a wheelchair full-time due to spina bifida which paralyzes me completely below the waist. Up to 3 days ago i never even knew you existed, now i cannot get enough of you, your blogs, your video diaries. You are the most beautiful, enigmatic, charming human being i have ever come across in mu entire life (and i have been all over the world) Your face, your voice, your physical mannerisms & gestures. Everything that makes you you. I even like your cat. I wish that i could see the world in the positive mature way that you do , but i cannot. You are beyond beautiful & beyond perfect Sara. MD or no MD & i sincerely hope that you live to be an extremely old old lady. It sickened me that one of your ex boyfriends made a derogatory comment about your physical appearance because your beauty hits me like a number 7 bus coming down a hill with no brakes. i was up until 5am 3 nights ago transfixed by you, Be well "Bloo" i live in Dublin. Zoltan,

    1. Gosh, thank you for such a lovely comment. I have no idea how to reply to that! I'm so glad you enjoyed my stuff. Sometimes I forget that people actually see it! Well people other than my close circle of blogging friends that is. I'm far from perfect and we all have our times of struggle, but I believe everyone is capable of learning to view the world in a positive light and appreciating the small things. Allowing yourself to realise you don't have to be happy 24/7 and accepting everything can't be perfect is one of the first steps! And even if you're not feeling the positivity yourself, you definitely spread it with this lovely comment. Thank you again! xo


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