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,

adult-onset Myotonic Muscular Dystrophy (MMD). 

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.  

Single-fibre electromyography (SFEMG): The waiting game continues.

You know your life has taken a weird twist when you're lying down in a room with two neurologists, a needle hanging out the side of your face, your son looking on, and you're all giggling as the machine measuring the health of your nerves, chucks out a long, and loud, fart noise. But this is where I am. So far down the rabbit hole at this point that I don't know if I'll ever climb out.

There is nothing elegant or glamorous about the world of medicine. If you had pride back at the start, by year 7 it's long gone. You become resigned to a life peppered with small clinic rooms, festy waiting rooms, telling complete strangers the most intimate details of your physical being, and your personal space, and body, being invaded again and again and again. You have to learn to laugh at it all or you lose a little part of yourself with each encounter. And really if you can't laugh at your farting nerves what can you laugh at?

This past week I was booked in for a single-fibre electromyography (SFEMG) at a local hospital. The idea of having a needle inserted in the face with no anaesthetic is not exactly something to which one looks forward. But it is one of those things that sometimes has to happen. Part of the diagnostic process involved with Myaesthenia Gravis (MG, my latest lovely) is not only clinical observation and blood tests (ie the anti-MuSK and anti-AChR antibodies), but also fun things like the SFEMG.

Even resigning myself to the process it's still one that leaves you a wee bit stressed. To counter my increasing levels of "Argggghhhh", I took the obvious path. I dressed brightly and wore my Dorothy shoes. As you do. Yep, I face my fears with colour and glitter. And photographs. On this occasion, my eldest son and budding photographer, came along to document the process.

I'll have to give it to the two neurologists. They didn't bat an eyelid when I rocked up in my sparkly shoes. And the response when I asked if they'd mind if my son took photos? "Sure. That's not the weirdest request we've had." The mind boggles.

After my inept attempts to explain what has been going on, my son found a photo of my face on my phone which showed the start of the weakness and ptosis. I can't stress enough how important it is to record pictures and videos of these symptoms. So much about our disorder is intermittent and 9 times out of 10 they wont be present on the day of our appointments. But this way they were able to see what happens and pull it apart bit by bit.

It's strange to see your photo being divided up into it's parts. A miss-match of contractions, weakness and ptosis. What I just see as facial blancmange, they saw as the diagnostic motherload. It also allowed them to decide exactly where to put the needle to get the biggest bang for the buck.

Of course this meant that I had to have the needle inserted, not near my eye like everyone else, but in the muscle next to my mouth aka "we rarely do it here, but after looking at your photos it seems the best spot." Apparently, this is also known as one of the more difficult areas.

Having said that, the neurologist in charge of the needle was lovely and encouraging. And you need the encouragement. Trying to purse your lips for 20mins whilst a needle is moved around to find the nerve fibres is damn hard. Add in that the muscle on the left side of my month twitches like crazy with the slightest strain, and trying to keep it still is a lesson in futility. Thank goodness for my meditation practice.

I "So Hummed" the hell out of that test.

It's strange to 'hear' your nerves. The crackles and fart noises are not what you expect, and the latter make it hard not to laugh. Given the giggles that also emerged from the two neurologists it would seem that the pleasure derived from a fart joke, transcends all levels of society.

After all that I was met with a series of unexpected questions about my family medical history. Followed by tests of my hand strength, ability to make and release fists and a testing of the reflex at the base of my thumbs. Both doctors asked the same questions and finished each other's sentences. It was clear that something key had come up on the monitor. Something that had lead them both to the same diagnostic destination. My least favourite word "interesting" was uttered and a groan may have escaped my lips. Then there was a request to do an additional SFEMG on the hand.

Of course by now my interest was peaked. I may have had a worried "hmmm..." moment, but I agreed.

Well, that's not fun.

The hand version hurt more than the face one. Especially when they decided to hit me on, or just next to, the needle with the neuro reflex hammer. I mean I know that it was necessary, but OW. There really needs to be a safe word with all these tests. It's still a bit bruised and tender 4 days later.

And at the end of all this I am hit with the whammy:

"We discovered some abnormalities that were totally unexpected."

Totally unexpected.

Totally fricken unexpected.

*sigh*

Apparently whatever these abnormalities might be, they are indicative of a neuromuscular disorder but they wouldn't tell me what. They wanted my regular neurologist to interpret them in line with my previous history. They did say they may have finally found my cause, and that is big news. But.

Poker faces, boys. You need to work on your poker faces.

It's weird that I had become accustomed to the idea that I have MG. Emotionally, I'd come to terms with the diagnosis, as it all seemed pretty clear. I'd read up. Tossed up my treatment options and hovered on the edge of an online support group. And here I am again adrift in the seas of the unknown. From their reaction it was clear that whatever came up was not indicative of MG. What it is indicative of is, well, who knows. Now I get to wait until December to find out.

Waiting. Waiting. Waiting.

I think I have spent the bulk of the last 7 years waiting.

I feel like the kid in the back of the car constantly asking "Are we there yet?"

Thank goodness for the power of glittery red shoes. It would seem they bring joy not only to me but complete strangers in an elevator, fellow patients in a waiting room and even silver-haired neurologists.

Michelle

(Thumbs Up for Awareness blue thumbs combined with Dorothy heals

 has to kick Dysautonomia's arse) 

This one's dedicated to MG who may or may not be part of my package.

Develop all the symptoms!

I saw the above picture over on Carrie, from Just Mildly Medicated's, Facebook page today and thought it couldn't be more perfect for my current situation. If you follow me over on Facebook you know that despite Jeri's (my pacemaker) best efforts I've still had a dive in my symptoms. This is not to say that Jeri isn't doing her job. She's been a trooper, and I haven't had a collapse since she went in. Funny how a regular heart beat helps. But alas even Jeri is just not equipped to fully deal with my body.

I've had a step-wise progression. Ie I deteriorate for a while, then that stops, I become kind of stable for a while, and then I start to deteriorate again, until the next plateau, and on it goes, ad infinitum. It's been my regular pattern the past 7 years. But something definitely changed back in May. Not only did my heart decide to become a couch potato, but a host of other symptoms popped up, some new and some with an increase in frequency. As I said, "I think I may be in the "fall screaming" stage before I hit the next step plateau."

Luckily, I also had a neurology appointment coming up. Instead of my normal 'Take in my 3 Top problems', philosophy for medical appointments, I ended up with 7. Then as my appointment progressed and she started asking the right questions (because she's an ace neurologist) and Eunice (my last remaining, and thoroughly over taxed, brain cell) finally looked up from her latest edition of Woman's Day, more problems came to mind. 

Thankfully, instead of relying on my inadequate descriptive skills I also came armed with a host of photos and videos to show what my body does in these bad patches. Even more thankfully, my lovely neurologist was stoked that I had a multimedia display worked out for her, on top of my nicely set out, dot point, list in my notebook. (We may just share a love of organisation and structure.)

Thankfully again, or not depending on how I am reacting to the news in a particular hour of the day, she actually had an pretty clear idea as to why I can't walk periodically, and why the left side of my face (not unlike my boobs and sad derrière) heads south, and why my breathing gets difficult periodically, and why my meds are getting stuck in my throat, and why I can no longer squish a lemon, even with 2 hands, and..... 

You see not only do I have, as she put it on my referral for a biopsy of one of my facial nerves (that's right, they are going to cut another fricken nerve out of my body), "a very rare autonomic disorder" (so rare it doesn't even rate it's own name, though I did suggest FUBAR to her again. I do hope it takes off.) I have also developed another rare, this time neuromuscular, disorder. Because one just wasn't enough. No way, no how, baby. I'm gunna get me all the symptoms! Oh, and did I mention they are going to CUT INTO MY FACE. 

The culprit this time being Myaesthenia Gravis, or grave muscle weakness, for the less Latin-minded. Well at least that's the odds on favourite. The Black Caviar of all the potential neuromuscular junction disorders. I'll let the interested read up on it in their own time, as really I can't be arsed facing it enough to write about it in detail at the moment.

And after a a quick squizz of Medline the likelihood of having either of those rare disorders is indeed very rare. But to have them both together, to have The Universe insert the pointy end of the pineapple in my nether regions once more, and with great vigor, is pretty much rare to the power of infinity. Damn you body and your anal tendencies to do everything 110%! 

So now I am waiting on the confirmation from antibody testing and await the joy that will be the facial nerve biopsy. Admittedly there are a range of treatments, none of which are pleasant, (Mestinon and I did not part of good terms after our short-lived daliance) but it is manageable. YAY another no cure, progressive diagnosis. Just what every girl wants to hear.

And all my autonomic symptoms, small fibre, and now large fibre neuropathies are spreading/multiplying like randy little rabbits all over this sack of meat I call, my body (or Arsewipe, depending on the level of maturity of my coping skills at the time).

Oh and did I mention they are going to CUT INTO MY FACE!

Michelle :)

But I did get to up my pain meds. And my neurologist said I looked pretty, and she liked my skirt. And now every time Mr Grumpy moans about something I simply yell "WELL AT LEAST THEY'RE NOT CUTTING A NERVE OUT OF YOUR FACE", which frankly is the best come back EVER. So you know it wasn't all bad.

PS Go on over and visit Carrie over on Just Mildly Medicated, love her. She's a woman after my own heart. Taking the piss out of illness. Cracking sense of humour. And she understands and shares my love of both Game of Thrones and The Walking Dead. Oh, and she has a cape!