Thursday, 19 December 2013

So it seems I've found my Holy Grail and it's goat-shaped.


Dysautonomia is a weird collection of illnesses. Even if you are lucky enough to find your subtype (eg Postural Orthostatic Tachycardia Syndrome (POTS), Neurocardiogenic Syncope (NCS), Pure Autonomic Failure(PAF)) that is no guarantee you'll know the specific cause of your subtype. One glance at patient forums and you'll find that the majority of patients seem to have either no, or only a rough, idea of what is causing their symptoms. It's one of the conundrums with research in the area. Even in a room full of POTS patients, the causes can be as varied as autoimmune diseases, mitochondrial disorders, connective tissue disorders and a plethora of genetic conditions. If you're stuck with only a weird collection of autonomic symptoms (waves from this side of the keyboard) the choices are even greater. But we all hold out hope of finding our particular cause.

You see until you know your underlying cause all you are doing is managing your symptoms. That's not a cure. And frequently, given the complexity of our presentations, not all that successful. Finding your cause is the illness equivalent of the quest for the Holy Grail. Something very few seem lucky enough to do, either due to complexity or a lack of medical support. But a cause gives you something to actively treat and potentially, cure.

I can't even begin to articulate how important having a name for what you are experiencing can be. Legitimacy, tangibility, hope. It's all wrapped up in that diagnostic title. The shadow is gone. The grey is gone. And good or bad, the defeat of that uncertainty, can be an amazingly cathartic experience.

For seven years I have sought my Holy Grail. Frequently, the search has been more Monty Python-esque, than inspirational quest. I have lived the hope/disappointment cycle throughout. Hope for a cause/diagnosis/treatment, and disappointment time and again. I wrote about the toll it takes way back in my first post:

"How do you explain to someone that not getting a serious or life-threatening diagnosis is disappointing? After months of living with uncertainty and the fear and the doubt it generates, you start to long for a concrete diagnosis no matter what it is. How do you plan your life or explain your illness when it is this shadow being that can’t be measured or understood. I’m a rather practical kind of person. If I know what it is I can educate myself, I can plan my life; I can do what needs to be done. I can be legitimately ill." (July, 2009)

It's exhausting.  

After seven, nearly 8 yrs now, I went into my neurology appointment on Wednesday with mixed feelings. The neurologists who conducted my SFEMGs said they were pretty sure they'd found my cause. Since then I have lived with a mix of excitement, dread (the look on their faces was less than encouraging), and the resignation that it could have been nothing more than yet another diagnosis-tease.

But it seems the completely unexpected abnormalities they discovered have led me to my grail.

Not Myaesthenia Gravis (MG) as was expected. No it couldn't be that simple. I had resigned myself to MG. Had started the research process and moved forward. There are treatments. There is research. There are organisations. But no.

   


You see those pesky out of left-field abnormalities led me down a different path. Myotonia. Or to be more precise,


What you haven't heard of it? Me neither. Yep, I have developed something no one has heard of (again). Even better I have developed something for which there is no treatment (well there's one, but it damages your heart and as my neuro admitted very few of her patients take it). That is degenerative. That is progressive. That, and what is stressing me the most, is autosomal dominant.


I did bloods on Wednesday to try and narrow it down from the 3 possible subtypes, two of which are systemic and have an autonomic component. So now I have to wait, again, until March for those answers. How much it explains my autonomic issues? I'm unsure. Is it an all or partial answer is unclear and even the available research seems to disagree? For now I'm putting it all aside and concentrating on getting through Christmas.


I like my neurologist. She's calm, caring and practical. That works well for me. I'm extremely lucky that she has taken this journey with me and never given up. She has held my hand, directed when needed, and listened to my need to find an answer and helped me achieve that. Something very few patients seem to experience.

She didn't even bat an eyelid when I asked for the 12th time "are you sure there are no other possible causes?"

(This is the face of someone for whom 12th time is not the charm.)


Looking back it was all a bit surreal.

Me dolled up with my Dorothy shoes. My son taking photos all over the room. Discussions about glitter trails throughout her rooms. Me reading and re-reading the paperwork from the neurophysiology department. All whilst being told that I have a degenerative neuromuscular disorder and organising genetic sequencing.

All the while documenting the moments of what it's like to get one of those diagnoses. 

After so many years ill, and so many years of the hope/disappointment cycle, it simply left me numb. I remember smiling. Laughing at a joke. Asking questions. And underneath it all, numbness.

If this was the start of my illness journey I think I may have freaked out far more, but now? That I have a degenerative condition is not a shock. That's been clear to all and sundry. That my muscles have been deteriorating? Also not a shock. I can see the muscle wasting in my right hand and on the left side of my face, and the weakness is spreading. I knew whatever was happening, my health is deteriorating and I'd come to terms with that a long time ago. As Mr Grumpy pointed out the other day, I am far more resilient these days. Far more than at the start. And you do have to find a way of coming to terms with your lot in life, otherwise the toll is too great to bear. However, I do reserve the right to freak out in the near future. To cry and yell and rock in the corner.

That evening my eldest son got it into his head that after such a day I needed a margarita. So out he went and brought all the ingredients and made me a large margarita in a salt rimmed glass. He's a good boy.


But for now numb, compartmentalisation, blinkers, denial and margaritas (well one margarita, and a week later I still feel hung over) are my method of coping.

Plus, at the moment, I just can't face talking about it again.

Oh and my love of goats now makes sense as one of my 3 options, Myotonia Congenita, is the same disorder that afflicts the famous Fainting Goats. They truly are my animal!

Michelle

I was going to add the obvious Hunters & Collectors classic Holy Grail as my musical accompaniment. But I think Throw Your arms Around Me, is more appropriate, because dear readers, I could do with a big virtual hug right about now.  

24 comments:

  1. Oh Michelle! Lots of love, hugs and support to you xoxo
    And as always, very well written!!

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    1. Thanks Sally I appreciate the hugs and support xx

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  2. Michelle, I agree, getting a name for the thing is great, but the implications are hard. There will be times when you freak out and pine for the days you didn't know the diagnosis. Does Autosomal dominant mean your kids could develop it too? Well done to the boy with the Margarita :) Goats are cool. I raised a baby goat who for the rest of his life remembered me as his mama. Lots of love, Jen Jacobs xxxx

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    1. Thanks Jen. Yeah autosomal dominant equals 50/50 chance of passing it on. I do think a name is a good thing long term, but it doesn't negate the emotions that come along with the ride. That's so cute about your baby goat. I'm hoping we can get a nanny with a couple of kids and use the milk as it's supposed to be easier to digest.

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  3. I'm not gonna lie, I'm sitting here crying. (Just a little...) We all want some form of happy ending, no matter what storybook life we are or aren't living. And some of want to find ways of laughing at everything, no matter how dark the humor may get.
    I know you'll find some way, some day, to wrap your mind around thins. And I know you're courageous and a fighter and you'll come out on your feet (even if they're up on a couch) but for now, I'm heart-sick for you as you face this path you never saw coming.
    Know that I'm sending you a ton of squishy hugs and a ton of love and all the extra hope I have. *hugs*

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    1. Big hugs to you too Chris. And can I say your wripple exploits have made me laugh and I needed that. So thank you for that xx

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  4. Oh, Michelle. I groaned out loud when I saw that autosomal dominant bit. I hope your boys will be okay. You've all gone through so much already. I hope it brings you a little brightness to know that here in the States, a large drugstore chain has been working REALLY hard to raise money for Muscular Dystrophy research. Hopefully treatments or even a cure can come of that :)

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    1. That does help C.M. at least there is active research and much has been identified about mechanisms, genes etc. That's gotta be a good thing. I think I'm just in that initial phase of Oh Crap! Once I get past that and can wrap my head around it all it will be easier. Managed to get this far with the whole chronic illness dealio I'm sure I'll get through this to a place where I am settled again. xx

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  5. Michelle, I hope you can open the link below, The Stereophics 'You're My Star', lyrics below. I wish sending you my love and 'cyber hugs' could dissolve all the crap for you, you give so much of yourself to all of us, may your god bless you with something good soon xx Tricia ps, ever the ageing 'letch' meself, the singer is a nice bit of eye candy ;>)

    http://youtu.be/D4dm4_SKbOs

    "You're My Star"

    You fly with angels wings
    You've got my blood in your veins
    And your eyes see everything
    And they shine like diamond rings

    You're my Sunday, make my Monday come alive
    Just like Tuesday, you're a new day, wakes me up
    Wednesday's raining, Thursday's yearning Friday nights
    Then it all ends at the weekend, you're my star

    At times, I cave right in
    (Times I cave right in)
    But this fights, we have to win
    (This time we have to win)

    And your songs you love to sing
    (La la la la la, la la la la)
    May your dreams forever live
    (La la la la la, la la la la)

    You're my Sunday, make my Monday come alive
    Just like Tuesday you're a new day, wakes me up
    Wednesday's raining, Thursday's yearning Friday nights
    Then it all ends at the weekend, you're my star
    You're my star, yes you are

    It's a thrill to see your imagination
    Just watching you is an education
    What's in your mind, is my fascination
    It blows my mind, it set's my heart racing

    You're my Sunday, make my Monday come alive
    (You make me come alive)
    Just like Tuesday you're a new day, wakes me up
    (You make me come alive)
    Wednesday's raining, Thursday's yearning Friday nights
    (You make me come alive)
    Then it all ends at the weekend, you're my star

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    1. Thank you Tricia you made me laugh with your letch comment. I'm all for a bit of cougar action. Just because we are a bit older doesn't mean we can't appreciate some fine male specimens. Thank you for that song. I love it. Everyone has been so lovely and supportive it really makes a huge difference xx

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  6. I started reading your blog about a week ago. I got diagnosed with dysautonomia at the beginning of October and have since been actively searching for my cause. 2 days ago I found http://bobisdysautonomia.blogspot.com/2010_02_01_archive.html your post titled Swoon. My blood pressure and heart rate do the same thing and I've yet to find someone among the dysautonomia forums whose bp/hr does that. My blood pressure and heart rate are all over the place and go from being really low, to really high, as does my heart rate, and then my pulse pressure will get super low also, like you mentioned, which is the only reason I was unable to get a diagnosis of POTS. So I've been paying close attention to your blog trying to figure out your underlying cause because I finally found someone whose symptoms seemed so similar to me. Last night right before I went to sleep I saw this post and looked it up and I seemed to have a lot of the symptoms and it seemed to explain weird things to me that I would have never connected myself, like my muscles tightening up and being unable to relax, my failing vision, the fact I'm constantly choking, and so on. I had a doctors appointment this morning and mentioned it to my doctor and he was doing the thumb test and my thumb muscle tightened up and was unable to relax and he said it's a good possibility that I have it and when I get on insurance we're going to test for it. I just have to say thank you so much for blogging. I'm hoping that is not my cause, but if it is I would have never found out or it would have been years had I not read your post last night. I'm only 20 years old, so If I did have it it would be the beginning stages of it as I don't even have all of the symptoms yet, although enough to cause suspicion and make me bring it up to the doctor. My doctor was suspicious enough that he even wrote down that I do have it on my handicapped parking permit because he said it would go easier then writing down the dysautonomia. Again THANKYOU SO MUCH. From the bottom of my heart I'm very grateful for you blogging because had I not seen the connection in symptoms and had you not posted about this I would have never looked it up. In all my research this had not once crossed my mind. If I do have it it would have taken a lot of progression and years without knowing before I finally got a diagnosis, so no matter what happens, thank you so much. Stay strong and good luck with everything!! You will be in my prayers. I wish you the best.

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    1. OMG Anon. Talk about kismet. I am sorry that it may be an option for you too, but it does make me feel easier about sharing when it may help someone else. It wasn't something I was familiar with and never something that has come up in the past. I always hope that in sharing my story it will help others in some way or raise awareness about different issues. My neuro said people often go undiagnosed as the initial symptoms are vague (heard that before) and often it is only when they get a weird type of cataract or find things like they can't release their hand after shaking. It really isn't a common thing to be looked at. I love that your doctor is supportive, that's half the battle. I will keep you in my thoughts and hope this isn't the case for you xx

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  7. Michelle, I am truly heartbroken for you. I so wanted your cause to be something fixable, as I'm sure you did too. Let's hope that they come up with better treatments and maybe even some gene therapy in the coming years. I saw that modafinil is used to help with the fatigue. This is being studied at Vanderbilt for POTS too, and they've been given it out to some of their sleepy POTSies already.

    But as always, despite the bad news, you find a way to make us all laugh with your comment about the fainting goats. Did you know that the Fainting Goat cocktail is the official adult beverage of Dysautonomia International? We know those goats don't really faint, but we couldn't pass up a drink with five flavors of rum. Now when we make a toast with this drink, we can tell people we are celebrating the fainting goat because our favorite dysautonomia blogger is a real life fainting goat. ;) Here's the recipe, in case you run out of that margarita:
    http://www.1001cocktails.com/recipes/mixed-drinks/300570/cocktail-fainting-goat.html

    Thinking of you. Hugs and rainbow sprinkles.

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    1. I think you just made my day, Lauren. Though if I had that cocktail I would most definitely be a fainting goat! It is a lot to process at the moment but even just writing it all out has helped tremendously. I've been gifted with much love and support from our community and from others. I'm really touched and it reaffirm that there is far more good in the world than anything else xx

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  8. Michelle, This is what I was told that I most like had in January (adult onset of Myotonic Dystrophy) and then because of insurance reasons had to wait for each test to be ordered and returned before the next could be run. It took until nearly August for all of them to come back negative. It still very possible this is what I have and it really matches my mother's symptoms and progression, and would explain why I seem to have all of her symptoms one to two decades before she did. The genetic anticipation is terrifying when I think of how it may then progress to my kids and I dread having the conversation that perhaps they should not have children so their babies aren't subjected to the worst version of it. I can't say for 100 percent that this is what I have, but I very obviously have the two EMG's that show at every site I have myotonic potentials. I also have the POTS like issues and my Mom's history. I hope good things for you. If you find a positive test it really seems the they are right on the cusp of revolutionary treatments right now. I did not see that you have the exact type listed above so here is hoping you get an answer soon.
    Jeff Grigsby

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    1. I didn't know that was what they were thinking for you too, Jeff. You articulate much of what is running through my mind at the moment. I'm having to stop take a deep breath and let it go or it all starts to get a bit overwhelming. MMD1 was what she mostly spoke about on the day but I'm getting tested for MMD2 as well. Then congenita if they come up clear (but that's yet more money). Ridiculously, one is a free test here and the other it's a user pays system. I hope for both of us we have more clarity soon so those big issues can be faced and dealt with. xx

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  9. Big old hug from the mountains of east Tennessee to my kindred spirit down under.
    Judy Tucker

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  10. Though "luck" is a word that I use with extreme caution when dealing with anything related to one's health, I must say, I think that you're extremely lucky, or perhaps fortunate would be a better word, to have had a doctor like that who has been there fighting the good fight with you and helping you find the best possible diagnosis. In 11 years of being chronically ill and having seeing a wide range of doctors (dozens in total) in three provinces and two countries, I've never one had one who had more than a vague passing interest in my health or well-being, and even finding that in someone has often taken years. I realize one could say that such was my perspective, but I promise you, it's not. Just ask Tony, who has been with me at most of the medical appointments, bless his truly caring heart, I've had in the 9.5 years (out of those 11) that we've been together. He'll say the same thing - plus some more choice words, I assure you. Perpetual optimist, I like to think that I'll find at least one doctor someday who is akin to your neurologist.

    My brave, inspiring, dear and very amazing friend, please know that I admire you to no end and that I'm wishing you and your family the best holiday season possible.

    Gentle hugs,
    ♥ Jessica

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  11. Dear Michelle

    I have been reading your blog for about a year now, after being diagnosed with dysautonomia about two years ago. I am also a fellow Melburnian (albeit with a distinct Kiwi twang). After reading your most recent post I wanted to firstly wish you and for family all the best during a challenging time. Secondly, thank you so much for your efforts in supporting the dysautonomia community. Your blog is a wonderful mixture of inspiration and information (with good dollops of much needed humour to boot), and has helped me so much during some difficult times. Thank you! All the best, Glen.

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  12. Hi Michelle - long time listener, first time caller :) I lurk here a little as I have autoimmune dysautonomia (going through a less well controlled phase at the moment, unfortunately), and always appreciate your thoughts - especially today, when I read I am not the only one who strips after dinner (do you have to lie under a blasting air conditioner as well?). And I'm really sorry that you got such crappy news.

    But I had to comment on this one as I sit on the flip side of your situation - my dysautonomia is most likely inherited. It is a little more complex in our family - doctors are sure the abundance of autoimmune conditions and other weird health issues in our family are genetic - they are just not sure where to start looking for the rogue gene/s. As much as I hope beyond all hope that your sons dodge this particular bullet, I'm hoping as someone who didn't this will help.

    Firstly, I don't blame my mum and your sons will not blame you. They sound like pretty awesome boys - although no metter how awesome chronic, lifechanging illness makes you mad. Mad at the universe, mad at whatever god you believe in and mad at a whole lot of other things. But I have never been mad at my mum - when she had me she didn't know.

    Secondly, be proud because your journey will make theirs easier. You have endured all the tests, misdiagnoses, dodgy medicines, mean doctors and all the other crap on this path and that will mean that they don't have to cop quite as much of it. Although finding the dodgy gene in our family may not be a cure for me, my mum keeps working with doctors to find it in large part so that I can have embryo screening done when I have children, and make this beast stop with me.

    Thirdly, you will understand. Chronic illness is a lonely journey and if you haven't lived it or been close to someone who has, you don't understand it no matter how much explaination you are given. And to have someone get it means a lot.

    Finally, you have set a great example, like me mum, of not giving up life to illness. And that is hard, but the only way in the long term to keep your sanity.

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  13. Michelle, how did this testing go for you? Did you get results? Anything definitive in the search for repeats?

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    1. MMD1 got ruled out quickly and finally got my MMD2 results and am just off in repeats, so don't technically qualify. So now I'm back stuck with unexplained and progressive myotonia, muscle weakness and wasting, on top of everything else. Basically living with all the features of MMD but not quite meeting the criteria. A wee bit over it at this point. Can't be bothered shelling out the ridiculous cash I don't have, for the next level of genetic testing. It's obviously in the family of disorders, but testing isn't going to change my treatment.

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All who are lovely enough to comment should be showered with cup cakes, glitter and macarons. I promise to use my spoon bending mind powers to try and get that happening for all who are lovely enough to share their words. Those who go the extra step to share posts should really get a free unicorn. Or at least the gift of finding the shortest and quickest line at the supermarket on a regular basis. xx