Chronically "Dys" functional: The dirty "D" word that changed my life

This month is a very important month in my calander because October is Dysautonomia Awareness Month. This month is aimed to raise awareness and promote understanding and greater knowledge about a condition that has significantly changed my life since it began in 2010.

Because it is awareness month I thought I'd give a little run down on the symptoms myself and others with dysautonomia suffer on a daily basis. Whilst there is a significant range in disability and impact, there are many people fighting the good fight to kick some dysautonomia arse!

I suffer from two forms of Dysautonomia, primarily Autoimmune Autonomic Ganglionopathy (AAG) and secondary to that, Postural Orthostatic Tachycardia Syndrome (POTS). Dysautonomia is an umbrella term for conditions which involve malfunctioning of the autonomic nervous system. There is involvement of both the sympathetic and parasympathetic systems, with 'automatic' functions of the body impaired. In my case, I have a very severe form of both, with no other known case of equal severity that we (my team) are aware of internationally...not a title I want to own, nor keep.

So a bit about AAG.

AAG is a very rare condition, with limited research suggesting an incidence of 1 in 1 million. Basically AAG causes widespread dysfunction in all aspects of the autonomic nervous system, so things like blood pressure, heart rate, temperature regulation, breathing and many other 'automatic' functions don't work. Typical symptoms of AAG include, but are not limited to:

- severe orthostatic hypotension (very low blood pressure upon standing)
- fainting
- gastrointestinal dysmotility

- urinary retention (neurogenic bladder)
- fixed and dilated pupils

- dry mouth

- dry eyes

For me, I live with all of the above symptoms to varying degrees depending on the day. Some days are managable while others are really challenging which makes this illness very unpredictable and difficult to live with. I pass out/faint and loose consciousness after a maximum of 7 minutes in unsupported sitting (which is a HUGE improvement), my eyes need treatment multiple times per day for dryness, my mouth is an eternal desert, I have a bladder that has failed and ongoing GI dysmotility and symptoms. Other symptoms I experience are neuropathic pain, muscle weakness, deconditioning, dizziness, nausea and much more that I won't go into which just fade into the daily grind. All parts of what makes up 'Erika' and all hard work. Many of these issues can be hidden or disguised from the general public and fit under the category of an invisible illness, but unfortunately many of them I cannot hide making my disability quite obvious.

POTS

In my case, POTS is a symptom of my AAG, but brings its own significant challenges to the table. Researchers say that a person with POTS experiences a similar feeling to that of someone suffering COPD and congestive heart failure. For me, it feels like my body never rests. I can feel my heart beating in my chest 90% of the time, night or day and my heart rate rests tachycardic, at over 100bpm permanently despite medication, where a normal person rests between 60-80bpm. Upon sitting up, putting my arms above my head or rolling over my heart rate can jump to around 150- 200bpm on any given day.

While the diagnostic criteria focus on the abnormal heart rate increase upon standing (or even sitting in my case aswell), POTS usually presents with symptoms much more complex than a simple increase in heart rate. POTS patients often have hypovolemia (low blood volume) and high levels of plasma norepinephrine while standing, reflecting increased sympathetic nervous system activation. Approxiamtely 50% of POTS patients have a small fiber neuropathy that impacts their sudomotor nerves. Many POTS patients also experience fatigue, headaches, lightheadedness, heart palpitations, exercise intolerance, nausea, diminished concentration, tremulousness (shaking), syncope (fainting), coldness or pain in the extremeties, chest pain and shortness of breath. Patients can develop a reddish purple color in the legs upon standing, believed to be caused by blood pooling or poor circulation. The color change subsides upon returning to a reclined position. Everyday and even sometimes within hours my situation and POTS symptoms can change. I can go from my usual level of function to nauseated and dizzy in minutes and this fluctuation is not uncommon in POTS. It is an uncomfortable and highly debilitating illness.

Whilst there is NO cure for AAG or POTS, for me there is hope for better management and better quality of life. It's all about finding a personal balance, and for me, keeping my frame of mind in the right zone to stay hopeful but realistic. As my neurologist says, we like to remain "positively optimistic".

I will live with Dysautonomia for the rest of my life. It may progress, stabilise or somewhat improve - there is no set pathway and not enough evidence to truly know. I just thankful I am on the improvement pathway, rather than progressive for now.

The reality is though, until more research, funding and interest is taken into Dysautonomia the struggle will continue for all of us affected. In Australia there are very few doctors aware of this condition which makes diagnosis and treatment extremely difficult and frustrating, often resulting in mis-diagnosis and lack of understanding.