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Friday, 29 August 2014

Operation Diagnosis!

"The best thing about the future is that it comes one day at a time."
Abraham Lincoln

Yesterday was the second of two hospital/doctor appointments I had this week. The first was on Wednesday with my local GP. I didn't mention it in my last entry because well, I kind of rambled on enough.

In order to get the assistance I need to attend class, I have to give Learning Support a proof of disability letter from a doctor. I guess my inability to walk and electric wheelchair doesn't speak for itself. I know, I know. It's just standard for everyone, and not all disabilities are obvious to the naked eye. Anyway, the receptionist at my local health centre told me I had to make an appointment to get the letter. My doctor however was less than pleased that I was taking up an appointment. I think he thought it was all a giant waste of his time, and they should take my world for it or something. He asked did I have to give one before, but I don't remember ever giving one. They said my old info would have been archived by now, and when I told my doctor that, he said it was a fancy word for them being too lazy to look. It was a little awkward how annoyed he seemed, but I know he wasn't annoyed at me. I guess he was just annoyed at the system.

After his slight hissy fit, I felt embarrassed for him when he said, "so, is it just Spinal Muscular Atrophy or do I need to write anything else?" I mean if you're going to be annoyed you have to write a proof of disability letter, and even more so that the receptionist had said I needed an appointment for it.. you probably should at least get the disability right. I mean my records were right there. I corrected him that it was Congenital Muscular Dystrophy, and then he asked if there was a fancy name for my chair. He seemed disappointed when I said it was just called an electric wheelchair. He really had no clue what he was supposed to write in the letter, so it ended up being about two lines long. I guess he doesn't do them much. I think it says a lot about how the system works when they can't take my word for it, but they can take the word of a GP who took my word for it and didn't even look at my records to check what I actually have. I literally could have told him I had anything and I'm pretty sure he'd have written it down. Oh well. Now I just have to wait and see if I get accepted, and then take the letter to Learning Support for them to do their thing. I'm really hoping I get a good classroom assistant this year.

On Thursday was the big diagnosis day! I'm not going to lie, I was kind of nervous. I'm not exactly good with change. I mean... I usually avoid it at all costs. Since I was three and a half I've been diagnosed as having Congenital Muscular Dystrophy. I knew it was an umbrella term and in the last few years they had isolated some different kinds. But I dunno, no matter how much my specialist said that I was technically undiagnosed, I felt weirdly loyal to the CMD label. Like it mattered what name I gave this disease, like changing it would make a difference to me. Sometimes the unknown does seem less scary.

The obligatory 'on the way to the hospital' selfie!
This is my nervous face. 

I ended up going with my dad again. I had wanted to go with my sister after how my MRI went with my dad. Luckily he was in a better mood on Thursday, and we were actually early for a change! That was even after getting stuck in traffic. I really like Belfast City Hospital. It has this weird homely feel to it. I guess it's because I've been going there for annual check ups for years. There's nothing like going to a clinic and seeing a friendly face that knows you. Some of the nurses haven't changed since I was a kid and even remember my goth teenage years! I remember a couple of years ago my older sister and I got the train to get to my appointment because my dad couldn't take me. This one nurse who has always been really nice to me couldn't believe we'd come up by yourselves. As if she'd just realised I'd grown up. She said my old doctor would be so proud at how independent I was. I mean, I could have totally found it patronising, but I knew it was coming from a good place. Anyway aside from the homely feel, I also just think the building is kinda cool. It stands out like a sore thumb. 

So like I said, we arrived early. It wasn't like my usual muscle clinic appointments because they didn't bother weighing me or anything. I also wasn't seeing my usual doctor as it was someone else that was diagnosing me. You may or may not recall the time I had an appointment at cancer house (it was the only place they had room for my appointment), well it was the same person I met then. I had prepared myself for there to be no news. I had been warned when they sent my blood away to London to be tested that they might not find what they were looking for and may have to do further tests. As much as I wanted to avoid change, I was also ready for this to be over and I didn't want to get my hopes up they would actually have something to tell me. Mostly I didn't want to have to listen to my dad complain about another wasted trip to the hospital.

It didn't take long for me to be seen and after we exchanged pleasantries he got right to it. He told me,

I finally had a diagnosis! 

As he explained the ins and outs of what they had discovered it all didn't seem so scary anymore. He didn't deliver the news with the hint of foreboding my usual doctor does. I have a Collagen VI Myopathy. Whilst trying to curb my anxiety about being diagnosed and what it might mean, I'd always told myself it wouldn't really change anything. I am what I am. My disability is what it is. My family had said much the same. And in some ways that is true. There's no treatments, so it's not like they can cure me because I have a fancy new name for what I have. I can't do any more or less than I did before and unless they do find a treatment, the future is going to come much the same as it always was. But as he explained about the disease and what it meant, we realised a lot of what we had always believed about my disability had been wrong. So... I guess I'll try and explain a bit about what this fancy new name means, well what I understood from what he said. He tried to get a little technical with DNA and genes etc. I got a little lost, but this is the gist. 

My doctor explained it all on this scrap of paper. 
But I guess his doodles won't mean much to you. 

Basically I have a faulty collagen gene. My COL6A2 gene to be exact. So rather than my muscles themselves being faulty, it's the collagen within them that has a defect and causes them not to work properly. Myopathy just means muscle disease. 

When I was diagnosed as a child my parents were told CMD was autosomal recessive, meaning both of my parents had to be carriers of the disease for me to have it. However they have now found that Collagen VI Myopathy is actually autosomal dominant, meaning only one of my parents gave me the faulty gene. He said since both of my parents are healthy and there's no history of the disease in our family, there is really no way to know which gave me it. It could have even been as random as my mum having one faulty egg that just so happened to be me. 

Another thing we'd always been told was that I couldn't be a carrier because I had the disease, so my children wouldn't have it. But both of my sisters could be carriers, and may have children with CMD if the father was also a carrier. However that also changed with this new diagnosis. He explained that because neither of my sisters have the disability, they don't have the faulty gene to pass along. So it's very unlikely their children would have it. However, there's a 50% chance my children would have it because I have it. Basically the kid would either get my faulty gene, or their dad's healthy gene. I was glad for my sister's that they probably don't have to worry, and I guess it kind of cemented the decision I'd already made not to have kids. I know there's a lot they can do when it comes to genetics these days, but for now it just feels like confirmation that my decision is right. 

Prognosis wise, he was very positive about everything. I guess that's what I'd been scared about all along, because I know certain types are more severe than others. He said I should be pretty stable strength wise now that I'm fully grown, but that possibly into my 50s to 70s that I'd experience more weakness much like anyone does when they get old, but a bit worse. I shouldn't develop any heart problems because of it if my heart has always been healthy, and it has. Well he said heart or lung problems, but I already have respiratory trouble. Though, even my breathing has been pretty stable. I've only had the levels on my BiPap changed once since I was 12, and I hope that was because I had a growth spurt between 12 and 20. It makes sense with the difference in size that your lungs would need more air to help fill them. If anyone knows if that's a thing, I would like to know? Anyway, I'm going to do my best to keep my lungs healthy.

And that is the story of my diagnosis. It wasn't as pointless as some people might have thought it would be (namely my family). And what the doctor said is true. Even though there isn't any treatments right now, if something does come up in the future for people with Collagen VI Myopathy, I know that's me. He also said I'm the first out of his patients that he's diagnosed with this type. Go me!

When I came home I did some Googling, and I kind of regret it. It kind of just made things confusing. I should have just taken his positive prognosis, but Google told me that it's still a spectrum and there are some more severe cases than others. But he didn't mention either of the types of Collagen VI Myopathy (Bethlem being the least severe and Ullrich being the most), so I guess I just fall somewhere in between. I shouldn't worry about it too much. If this has taught me anything it's that life is unpredictable. You have to take whatever doctors say with a pinch of salt, because they are learning new things all the time. Just a couple of years ago making this diagnosis wouldn't have been possible. Who knows what they'll come up with further down the line.


  1. I think it takes bravery to face this the way you do. Kudos to you.

    1. Thank you, I really appreciate that. :)

  2. You have such a light writing voice :)
    I really don't know how you do it!
    Good luck :)

    1. Thank you, I really appreciate that!
      I try and write how I would speak in person.
      There isn't much genius to it. :D
      Thanks again!

  3. Hi, I've been having a little read about your MD, my brother has Laminin alpha 2 negative CMD (Merosin negative CMD). Just having a little read of your My Disability page and this post, I'm obviously getting that you and Josh (my bro) both have CMD, but different types. Do you know anything about laminin? I don't know if your Dr had mentioned it, I was just wondering if it's that in your condition your laminin is fine, but the collagen doesn't have the thing to link to it- whereas Josh's condition mean his collagen is fine, but his Laminin A2 chain isn't there so the Laminin can't bind to his collagen. I don't know if that makes any sense! At any rate, I think you're pretty cool, you seem a lot like my brother and the attitude you both have towards your MD. Good on you. I hope you're doing well. (It was me who tweeted you saying I killed Lucy Beale. I've been following you for a while but never plucked up the courage to say hi... hi!) xx -Frankie

    1. Howdy! Hrm, I don't know anything about laminin actually. I don't recall my doctor mentioning it either. I have the WORST memory. D: I assume it's different since we have different names, but that's the only thing I have to go on. Sorry. xD Thank you! I try really hard! (kidding). That's cool though. What age is your brother? I recognised your name from the tweet. Sorry it took so long for me to get back to you and thank you for saying hi! Don't be a stranger. :) xo


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