Monday 28 February 2011

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.

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:

Or from my neuro:

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

Then there have been the miscellaneous words like:




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.

The Freak Michelle :)


  1. Well you definitely are "special." And I don't mean that in a short bus kind of way. Much. :)

    Thank goodness for the internet though, eh? Because if there are only five people in the world with one of these rare diseases, at least now there's a chance for them (and their doctors) to find one another.

  2. Elly Lou - I am 'special' in oh so many ways :)

    The internet has been a godsend for many. I can't imagine having this diagnosis even 10 years ago. Most likely I would never meet another person with Bob, and forget about finding info.

  3. What a mystery? Did you ever get to the bottom of it? Hopefully the internet will help bring some answers to you.

    1. Sort of. They can clarify what is wrong, just not why. After spending a week in hospital last year and being chopped and scanned and zapped and sampled to the nth degree, I'm stuck with an idiopathic Dysautonomia, secondary to a progressive neuropathy (most likely genetic in origin) that they can't work out the cause of, or what I now simply call a bad case of FUBAR. I've come to terms with the fact that after 7yrs I'm just one of those patients who'll likely never get a nice clear diagnosis. I'm not alone in that. At least my specialists are supportive and willing to explore any option for management or investigation that I put up. Mostly I just try and manage my symptoms as best I can and live life.


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