World Rare Disease Day 28th February 2011: (Re-post and update from 2010)

This is a re-post of a piece I wrote last year 2010, with updated information for the 2011 campaign.   

I've decided to be a bit more serious today.  Shocking I know, but this is a topic that deserves some serious recognition.  Even if you decide not to read this post please click on the link below to find out a little more about Rare Disease Day.

More Information

What is a rare disease?

It is estimated that there are 6000 to 8000 rare diseases in the world today

Characteristics of rare diseases

• Rare diseases are often chronic, progressive, degenerative, and often life-threatening
• Rare diseases are disabling: the quality of life of patients is often compromised by the lack or loss of autonomy
• High level of pain and suffering for the patient and his/her family
• No existing effective cure
• There are between 6000 and 8000 rare diseases
• 75% of rare disease affect children 30% of rare disease patients die before the age of 5
• 80% of rare diseases have identified genetic origins. Other rare diseases are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.

You have what? How many times have I heard that? For those of you who have read my blog for any length of time, you are well aware that I have demonstrated the intellect of a wet tissue by picking a disorder that no one has ever heard of. And I don't just mean people in the general community, even most doctors haven't heard of it, don't know how to recognise it, how to test for it or how to treat it. Good old Dysautonomia the bane of my existence. There are some more common forms, but I have been stupid enough to pick a rare version of this obscure disorder.  Despite three years of testing I still remain a medical mystery, the proverbial "Horse With No Name".  Collecting new and exciting symptoms and comorbid diseases along the way.

I thought getting in to see the top specialist in the country (or the Wizard of Oz as I like to call him) I would have an answer, but no, that would be too easy.  Instead I got the line you always hope to get from your doctor (yes that's sarcasm):

"I have only seen 1 or 2 people in my entire career with your symptom profile".

Also from my normal cardio:

"you may have Michelle's disease"

Or from my neuro:

"you really are a medical mystery aren't you?"


Then there have been the miscellaneous words like:

"special"

"unique"

"interesting"

I've also been told (repeatedly) that I may have Pure Autonomic Failure (PAF).  What's so rare about that?  Well PAF generally occurs in males over the age of 60, not 36-year-old women.  So there you go.  Not only am I not an 80-year-old woman, I may in fact be a a 65-year-old guy who pees like a horse and can't get it up.  YAY!  Maybe I just need a viagra.  

(2011 has rolled around and one year on PAF is now not thought to be the cause of my ill health.  One crappy disorder ruled out, well at least for this week.  At the moment the doctors are running with a diagnosis of  'WTF?', and thanks to increasing neurological symptoms I am now being sent off to see The Uberneurologist, in the hope he may have a clue as to the underlying cause of my 'Michelle's Disease'  I love his Wikipedia entry (and that he even has a Wikipedia entry):  

 "He is famed amongst his students and colleagues for his excellent impersonations, as well as demonstrations of the different types of movement disorders, especially hemiballismus. It is rumoured the Royal Australasian College of Physicians had to change their assessment method after a poor registrar had to perform a neurology examination in front of him. At the end of the examination, the registrar was presented with evidence based reasoning to why his method for sensory testing was neither sensitive nor specific".

I actually had classes with this Prof when I was doing my doctorate, and his impersonations were rather good.  Here's hoping he can work out what the hell is wrong with my body, or at the very least, entertain me with his impressive impersonations of various celebrities and movement disorders.  Maybe I can request a cogwheeling Meryl Streep or perhaps Gary Busey, as well, Gary Busey).

There are no answers when you are odd.

Will I get better?

"I don't know".

Will these tablets work?

"I don't know".

Where to from here?

"No idea".

So you live your life with the knowledge that you are getting worse and the reality that it doesn't look good.  Times like these tequila sounds good.

I'm not alone in this.  There are many obscure diseases and disorders around, with some that are unique to 1 or 2 people in the world.   Gene deletions or multiplications in a variety of forms.   Some caused by viruses or bacteria or unique environmental contamination.  Idiopathic (doctor speak for I have no idea why you have it) disorders.  Some little quirk of nature that creates a unique illness.

Unfortunately when you have a rare disorder there is little funding for research or treatments.  In many cases the top specialists are flying blind, using trial and error to treat their patients.  When things are rare it is hard to develop a standard treatment program. Governments look at the big picture, so funding goes to those disorders that affect the most people.

Rare diseases don't have the PR machine of other disorders eg Breast Cancer or AIDS. Government programs often don't have categories for these disorders, so patients find it extremely hard to get financial aid or access to rehabilitative programs.

World Rare Disease Awareness Day is a chance to bring attention to these hidden diseases.  To remind people that they exist and to give them a face.

Whether you call it Rare, Special, Unique, or Medical Mystery, it can be a hard road to travel when you have the disease no one has heard of, is difficult to treat, understand or explain.


Cheers
The Freak Michelle :)

Take the camera away from the crazy woman.

What do you do when you have limited oxygen going to your brain?  Why you grab a camera and make a video  of course.  Yes that's right, I decided I was going to bring out my inner Scorsese and record my insanity.  Hell, if the world can be exposed to the abomination otherwise known as Gigli, I can definitely have a crack at movie making.  So here it is.  I give you an insight into the vagueness, otherwise known as Bob plus two weeks of added pestilence.  Somehow, I don't think Hollywood will be calling anytime soon.



Cheers
Michelle :)

Pukefest 2011: The most craptastic event of the year.

Well it's on once more.  Yes that's right.  Bob and Jeff have been hard at work getting this project back off the ground.  I was hoping it was canceled this year, but no, it was not to be.  Pukefest  is back, as was evidenced by the big bag of carrots I had to squish down the shower drain with my big toe this morning.

(Every event needs a t-shirt. 

Especially when it has a unicorn with rainbow coloured puke.)

(Are 'carrot bags' an international phenomenon or are they purely Australian, like Vegemite?  I don't think Oprah discussed it on her recent tour, and given she was impressed by fornicating koalas, I'm pretty sure she's the kind of gal who'd be amused by, and would discuss, 'carrot bags'.  For those unfamiliar with the term, every person has a bag somewhere deep inside their bodies that is filled with a never ending supply of carrots.   Even if you haven't eaten a carrot for two years, when you puke, you will expel a bags worth of little orange carrot pieces, hence the existence of a 'carrot bag'.  Come on international readers, I need an answer.  These are the questions that consume me in my post puke haze.  And before you ask I already know that the meaning of life, the universe and everything, is 42, so I am down to pondering the big issues, such as the epidemiology of carrot bags). 

After a very pleasant two months of no nausea or puking post-angioplasty, it's back.  I sort of feel like the morning was was all very "Here's Johnny", except instead of an axe wielding Jack Nicholson, it was my breakfast saying an insane hello.  All this was accompanied by a rather elegant fall from my shower chair.  Naked, pasty, marshmallow body flailing under the falling water, landing legs akimbo, twisted like a pretzel, with a sound akin to a dead squid being slapped on the table at a fish market.  All accompanied be a lovely rendition of, "FRAK!* Frak me. Owwwww.  Frakking stupid shower chair.  FRAK! FRAK! FRAK! Owww. Fraking universe. Frakking useless body.  FRAKKKKKKKKKK........"  Halcyon days my friends.  Halcyon days.

YAY.  WOO BLOODY HOO!  Let me do the traditional 'Return of the Puke' dance of joy.

Slowly the nausea has been creeping back.  A little bit worse each day.  So slowly that for a while I could dismiss it as, 'it's just something I ate', 'it's just the stupid humidity and heat', 'it's not really coming back'.  You can convince yourself of anything if you say it often enough.  Hell, I still believe that Johny Depp is going to turn up n my doorstep offering to give me a back rub any day now.  Not delusional in the slightest, right?

I do wonder what this all means for Jeff, especially as my headaches have also been returning bit by bit.  I'm still not back to the soul crushing, insanity inducing migraines of old, but it is getting worse.  I've had to go out and buy my first lot of poppy derived drugs since my angioplasty, which is rather depressing.   I have a feeling that it all means that Jeff has once more turned my jugular into a dodgy rat infested squat. 

I knew his return was a risk, especially given his fractious nature and resistance during the procedure.  Many others who have the procedure have to have it done again as the veins re-stenose.  My bestie who put me onto the whole CCSVI idea has had it done three times now, so I'm not overly shocked that it may have collapsed again.

Not sure how I feel about it all or what I'll do.  Is two months nausea and migraine free worth the less than pleasant nature of the procedure or the stupidly long time it took me to recover?  I'm still tossing that up.  I have enough medical appointments on the cards as is, so I'm not sure if I want to add in another trip to the thumping tube of death, or The Balloonman at this stage.  If the 'two months' was instead 'two years' I may be more inclined to go back for round two.  If I hit frequent migraines again then maybe.  At present it's all very grey.

For those who live with nausea/puking everyday, you'll know how precious those two months of freedom were.  I have had nausea 24 hours a day, 7days a week since 2006.  Prior to the angioplasty I had not had even a single day's break.  The only thing that varied was the degree.  Was a I slightly nauseous, very nauseous, swallowing down mouthfuls of vomit, or riding the porcelain bus for hours on end.  It was like someone had snuck into my room in the middle of the night and flicked a switch in my body to the 'PUKE ON' position and it stuck.  So two months free has been like winning the lottery.

It's hard to explain what it's like to someone who is rarely ill.  It doesn't get better and you never get used to it.  It's the one symptom I've never learnt to tolerate.  The overall malaise, yes.  The feeling of dizziness every time I stand, yes.  The need to wear a bikini in Winter, yes.  A myriad of other symptoms, yes.  But not the nausea and puking.  It is continually foul and at times rather distressing.  Not to mention the cramp it puts on my social life and potential outings.

To give you an idea.  I went to the supermarket the other day with Mr Grumpy and half way through I thought I was going to throw up next to the bin bags and birthday candles. It was an overwhelming feeling.  The whole body stuff is horrible in itself, but the idea of throwing up in public, the hassle, the people watching, the poor staff having to clean it up, the fact you know you have no control over your body, that all goes through your mind and leaves you rather stressed and anxious.  I managed to get to the disgusting public loos to dry retch and had the joy of swallowing down mouthfuls of vomit on the car ride home.  You don't get used to that.  It never gets better, or easier to deal with, and there is not much in the way of respite.

I can prepare as best as possible, ie I always carry puke bags (see pics below).  I can tell myself it's out of my control.  It's part of Bob.  I can give myself pep talks and shout out positive affirmations till the cows come home, but in reality it sucks.  And each time it's simply 'Craptastic' (thanks Miranda for my new favourite descriptor).

(The cartoon of someone puking makes it all cute and fun right?  

Personally I think the addition of my pink sparkly feather boa really makes it special)

(Who thought it was a good idea to put cartoons on the bag?  

Who has the time, or inclination, to look at witty cartoons whilst they are blowing chinks?)

(Okay, I do like this one.  

There's nothing like a little cartoon puker to sum up the joys of a technicolour yawn).

So yes folks, Kermit was right, it really isn't easy being green.

Pukefest 2011 is truly the most craptastic event of the year.

The bleech Michelle

* Yes I am a sad geek.  The origins of 'frak'.

At least Pukefest 2011 does have a funky little theme song.  Beck, Nausea.

We can rebuild him.

Some of you may have noticed that I have been a tad slack on the blogging front of late.  Whilst most of that has been due to general apathy and a decided lack of work ethic, most of it has been due to the demise of my beloved laptop.  He has had many ups and downs over the last few year, but things have taken a turn for the worst.  Mr Grumpy feels he may be able to resuscitate him and new parts have been ordered from the Hong Kong Univeristy Laptop Hospital.  So I am anxiously waiting, crossing various body parts and downing a wine or two to ease my nerves, all in the hope that he may be cured.

At present he sits in pieces on the table in my loungeroom, collecting dust and dog hair.  I can't even take a photo and put it on, as I am stuck using eldest monkey boy's computer and am too scared to touch the manky socks, fetid underwear and musty cricket box that cover the hardrive.  I am reduced to reappropraiting someone elses photo of a deceased lap top that looks remarkably like my own (though thankfully I don't have the classic tartin teenage boy doona cover).

Given that the monkey boy's bedroom carries the odour of sweat, liquidising food, fart and other personal activities that tend to overly occupy the mind of a highly hormal teenage boy, I am loathe to enter unless it's a matter of life or death.  Add in that I have been feeling like death only slightly warmed up, and blogging has not exactly been up ther on my to do list.

So things may be a little quiet here until either Mr Grumpy does his House impersonaltion and Hal has been cured, or in the event of his demise, I can persuade him that a new lap top is necessary to my very survival, or at least sanity.

Please say a special prayer to the God of laptops that he may soon be restored to health. 

Cheers
The very worried  Michelle :)