Delving into my Diagnosis
My road from sudden, out-of-the-blue onset to judgment day was a lengthy one. For eighteen months, we hustled our way through countless specialists and diagnoses, which covered everything from funky infections to gallstones and food intolerances, before we eventually found ourselves sitting in my pain specialist's rooms back in 2011. Truth be told, I wasn't entirely sold on the idea of being there either. I knew very little about the role he plays in the pain scene, other than the fact that he was recommending the same course of treatment he himself gave my grandmother to help mask the aches of old age. At all of 24, was I merely setting myself up for a long life of masking the pain rather than resolving it? Thankfully that appointment put me in the company of some of the most incredible folk that pain scene in Perth has to offer, who have got me up to speed on the intricate ins and outs of persistent pain, and have helped me realise that chronic pain can be a stand-alone illness in its own right.
The diagnosis of any chronic illness is a tough one to cop. The quick fixes we all hope for simply don't exist in that realm. It's sobering at best, and the absence of cures and overabundance of unanswered questions can be hard for people to wrap their heads around. Do they know what's wrong yet? Has she just given up on things returning to the way they were? Is it not obvious that what she's doing isn't working if she's not getting better? Has she got a second opinion? I could list a barrage of my own unanswered questions, and I could spend the rest of my days expecting those answers and remedies to come my way. While there's a whole lot left to discover, and I fully intend to do my best to keep uncovering it, what most people don't see is that we do, in fact, have some tangible info we can grasp onto in the meantime. It's ever-evolving, but here's what we've been able to decipher thus far.
Ehlers-Danlos Syndrome (EDS) is a group of disorders that affect connective tissues, such as the joints, skin and blood vessels. As of twenty-seventeen, there are 13 identified types of Ehlers-Danlos syndromes. In the most common form of EDS (known as Type III or Hypermobile EDS), common signs and symptoms include:
JOINT LAXITY: An unusually large range of movement in both the large (knees, hips, elbows) and small (fingers and toes) joints occurs in most forms of EDS, and it is a hallmark feature of the Hypermobile type. Although the joints affected in my case were of zero benefit back in my figure skating days, a lucky few dancers and gymnasts amongst us can manage to put that increased flexibility to good use. However, joint hypermobility often brings with it some pesky symptoms, including chronic pain and stiffness in the joints and surrounding muscles, clicky joints, joints that are prone to dislocation, and recurrent injuries, such as sprains.
SKIN ELASTICITY AND FRAGILITY: Many people with Ehlers-Danlos syndroms sport skin that's exceptionally soft and velvety to the touch (win!), but is typically highly elastic, thin and fragile, making it prone to tearing, scarring and bruising, and notoriously hard to heal (boo!).
Other indicative features of Hypermobile EDS can include:
- A family history of similar hallmark symptoms
- Functional gastrointestinal disorders (Check!)
- Orthostatic intolerances, such as neurally mediated hypotension or postural orthostatic tachycardia (Check!)
POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME (POTS)
Postural Orthostatic Tachycardia Syndrome, delightfully dubbed as POTS, is a disorder involving the autonomic nervous system, which controls many of our body's 'automatic' physiological functions, including blood pressure, heart rate, blood vessels, movements of the digestive tract, and body temperature.
One of the hallmark features of POTS is orthostatic intolerance. Because the autonomic nervous system is not functioning in its typical fashion, the constriction of blood vessels that usually occurs when we change positions, from lying to sitting and, more prominently, from sitting to standing, are decreased or non-existent. This lack of vessel constriction causes blood to pool in the legs and abdomen, which in turn results in a shortage of blood being pumped back up to the heart and brain. Upon changes in posture, that sudden shortage of blood at our body's epicentre can result in dizziness, light-headedness, and fainting episodes. Other symptoms can include fluctuations in blood pressure, heart palpitations, shortness of breath and chest discomfort, tremors, nausea, headaches and migraines, neuropathic pain, insomnia, fatigue and mental clouding, light sensitivities, abdominal pain, functional digestive complications and flushing due to difficulties regulating body temperature. Fun!
"Developing POTS is a game changer for that person and their family. While it is an invisible illness to untrained professionals, the symptoms experienced by that individual can be life-altering. A person with POTS uses three times more energy to stand than normal. Even minor movements around the house, including eating meals and showering, can be exhausting and increase symptoms. The quality of life of a person with POTS has been compared to those with congestive heart failure or chronic obstructive pulmonary disease (COPD). POTS can truly be debilitating." -Standing up to POTS
Although there are many underlying causes for POTS, it has been identified that the condition often co-exists with Ehlers-Danlos Syndrome (EDS), with an estimated 80% of people with EDS also receiving a diagnosis of POTS (but not the other way around). It's also believed that approximately 50% of people with POTS also suffer from chronic nerve pain.
Because the potential range of symptoms are plentiful and cases vary significantly from person to person, as with all chronic illnesses, there's no one-size-fits-all approach to managing POTS, but thankfully there are often some nifty options out there to help us keep things at bay.
Neuropathic pain, more simply known as nerve pain, is a form of pain caused by damage, disease, or dysfunction in the nervous system. Pain is felt when our nerve endings sense that something's wrong, making it integral to our overall wellbeing. It lets us know when things aren't quite right and serves to protect us from all kinds of harm. When injuries heal, illnesses fade, and that threat is diminished, our nervous system settles, and the absence of pain lets us know we can get back to our day-to-day. But, from time to time, that injury or illness can damage or over-sensitise our nervous system, winding it up and causing nerves to misfire and continue sending pain signals long after that threat to our immediate health has been removed.
"For example, where nerves are compressed or inflamed for a long time due to chronic low back pain, even after treatment has removed pressure on the nerves, they can continue to send impulses to the brain. This 'pain memory' leads to what is known as 'pain sensitisation', where the nervous system is sending the wrong signals to the brain." -Pain Australia
Although signs and symptoms vary significantly from person to person, nerve pain is known to include any or several of the following: shooting, radiating, tingling, crawling, stabbing or burning pain, feelings of heat or coldness, pins and needles, electric shocks and numbness. In many cases, pain can also arise from external stimuli that are not ordinarily painful, such as light touch, clothing, or a sea breeze on the skin. My personal plight with nerve pain over the years has seen us grapple with a mix of chronic migraines, back pain, sporadic chest and abdominal pain, and some digestive symptoms.
The possible causes of nerve pain are also many and varied, covering everything from spinal cord injury, multiple sclerosis, and stroke, to persistent post-surgical pain, and chronic pain conditions that are classically non-nerve related in nature, such as Ehlers-Danlos or osteoarthritis. It can be a problematic form of pain to identify, hence my 18-month road to an eventual diagnosis, and sometimes, despite all our best efforts, the root cause of neuropathic pain just can't be pinpointed. While there are plenty of theories floating around our household, from funky bugs picked up from work and travel, or the 5-month wait and eventual surgery to remove my gallbladder, full to the brim with gravelly stones, I'm one of the many that fall into that category with an unknown trigger. And, truth be told, after eight years of studying my nervous system, I've learnt to become pretty content with that mystery, choosing instead to work with what we do know; our nervous systems are complicated things, and this is all just a fickle, flighty, and ever-evolving quirk of my body's.
References x Resources
The Ehlers-Danlos Society: https://www.ehlers-danlos.com/
Genetics Home Reference: https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome
Standing up to POTS: http://standinguptopots.org/learning/pots-causes
POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME
Standing up to POTS: http://standinguptopots.org/
Health Direct: https://www.healthdirect.gov.au/nerve-pain