Thursday 24 January 2013

Diagnostic Hoops

Today, while I was organising the new year's diary (updating emergency contact information etc.), I came across a list that I had made a couple of years ago which summarises my medical journey:

In 2005 the GP said "I have a hunch you might have LUPUS". Then, over the next 6 years, after being sent to: a pain specialist, anaesthetist, physiotherapist, gynaecologist, gastroenterologist, psychologist, psychiatrist, neurologist, rheumatologist, eye specialist, dental specialists, cardiologist, sleep specialist, immunologist, endocrinologists and radiologists, finally the specialist rheumatologist diagnosed "connective tissue disease 'on the LUPUS end of the spectrum'".
Far out!




Is it any wonder I felt exasperated? All that energy/time/expense only to be told what my GP thought in the first place, but we had to go through that complicated process for her to confirm it.

The problem with mixed connective tissue disease (MCTD) is that it is a relapsing and remitting condition which can affect any part of the body, more than one area at once but not necessarily all at the same time. To catch it is like trying to hit the bullseye on a swinging dartboard.  A lot of the early symptoms can be so non-specific that they are not recognised as significant or they can be misdiagnosed as something else.

It is called "mixed" because it presents as a mixture of symptoms. Certain patterns of symptoms together are common and these patterns have earned names like lupus, scleroderma, Sjögren's syndrome, Raynaud's phenomenon, vasculitis and Addison's disease. In my case, the symptoms don't present in a typical pattern, instead combining some symptoms from all of the above. My GP and I joke about it and she calls it "Jodie's Disease" for short. MCTD will present differently in everyone.

Regarding symptoms, often they are annoying and inconvenient, frequently they are totally debilitating and some of them are downright life-threatening. They are caused by autoimmune processes: the body's immune system attacks its 'self' ('auto' comes from Greek for 'self').

There is no specific diagnostic test for MCTD so it has been an arduous process of detective work. Many of 'the hoops I had to jump through' were the doctors looking to rule out other disorders first because it was easier to eliminate "simple things" (although I would hardly call MS simple). 

Now that we know what is happening, it can be treated (sadly, not cured) and I can learn to manage it. The years of trial and error have been helpful for daily management.

The old list of consultants was written to help me keep track of everything and keep me sane. Coming across it again reminds me of how far along the journey I have come. Thankfully, the list of ongoing appointments is much smaller these days. I have a great team around me now with great results: an entire year with no hospital admissions!

All the better for crocheting and blogging!

I hope that this post will be encouraging for anyone going through a lengthy trial of medical investigations (there is hope for a better situation, hang in there!) and informative for anyone who hadn't heard of these medical conditions.

Postscriptum 26 January 2013
Coincidentally, within days of posting this blog entry, I turned on the radio to hear ABC Radio National's "Health Report" which relates to the experience of having symptoms that are not easily diagnosed. If you are currently on, or have been on, a 'diagnostic roundabout' you will relate to the issues discussed.  I would recommend having a listen but also view some of the thoughtful comments on the program web page.

We are not alone in our struggles, and while the program discusses the notion of "waiting to see what develops" with concerning statistics, there are cases where it is a matter of finding the right medical professionals who can find the rare or uncommon disease/disorder and that takes time. 

We also have to accept the limitations of current medical technology and knowledge.  Willingness to accept that  there may be no discoverable cause for a symptom, can free a person to stop searching for the impossible diagnosis and get on with finding strategies to cope with the symptoms and thus improve quality of life.  Cognitive behavioural therapy is a useful tool and this is also discussed in the program. 

The second article on the program called "The Good Doctor" will also be of interest. Anyone who has suffered the indignity of multiple referrals and investigations will be able to relate and certainly have opinions and experiences to support the discussion on radio.

Today's program broadcast on ABC News Radio was a repeat, first broadcast on ABC Radio National on 27 August 2012.

Links
  • Specific information about Mixed Connective Tissue Disease (MCTD):
    http://www.mayoclinic.com/health/mixed-connective-tissue-disease/DS00675
  • Information on specific conditions which may present as part of MCTD;  e.g. Lupus (SLE),Raynaud's Phenomenon/Disease, Scleroderma, Addison's Disease/Secondary Adrenal Insufficiency (hypoadrenalism), Vasculitis:
    http://arthritissa.org.au/
    http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/adrenal_disorders/addisons_disease.html?qt=&sc=&alt=
    http://www.mayoclinic.com/health/vasculitis/DS00513
    http://www.lupus.org/webmodules/webarticlesnet/templates/southeasternpa_lupus.aspx?articleid=929&zoneid=162
  • General health information (Australian database): http://www.healthinsite.gov.au/
    Example search topics include: 'autoimmune diseases', 'connective tissue diseases' and names of individual conditions such as those listed above.
  • "Unexplained Medical Conditions", Health Report, Dr Norman Swan, ABC Radio National, 27 August 2012: http://www.abc.net.au/radionational/programs/healthreport/unexplained-medical-symptoms/4407734
  • "The Good Doctor", Health Report, Dr Norman Swan, ABC Radio National, 27 August 2012: http://www.abc.net.au/radionational/programs/healthreport/the-good-doctor/4407732

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