My journey with peripheral polyneuropathy has probably lasted my lifetime. It made itself known along the way but by 2009 its whisper was clearly audible, by 2011 it was shouting, by 2012 it was screaming at me. But what on earth had caused this autonomic then sensory, then by 2013 even the start of motor neuropathies?
I was born to an alcoholic who had attempted (failed) abortion twice with Quinine so peripheral nerve damage right from the start may well have been probable. By six months old I had recurrent infections (later diagnosed as primary immune deficiencies) and a number of viruses that could have caused it. I may have inherited salt wasting from my father and certainly did inherit a collagen disorder from my mother. Did I have symptoms of autonomic, sensory or motor neuropathies in early childhood? Autonomic, certainly, sensory, on and off, motor, maybe, episodically at different times throughout my life.
The closest we came to understanding why my polyneuropathy got to the level its now at was the theory that my collagen disorder – Ehlers Danlos Syndrome – had played a part; that collagen protects myelin which protects peripheral nerves and mine is degenerating. Another specialist suggested my autonomic neuropathy had developed as a result of chemo. But being immune deficient all my life, I wondered if this also played a part, particularly as I’d had Chicken Pox, EBV and Herpes Simplex 1 (cold sore virus), all of which have been linked to peripheral neuropathies. And what of salt craving and my dramatic improvements when on high sodium intake? I knew chemo had tipped the balance and that Tomoxifen was implicated. But how to make sense of the puzzle, the fruit salad?
I could have accepted the word ‘idiopathic’ but maybe that’s just a word people have when they cannot find the ONE cause. But what if that’s because there actually were multiple, cumulative causes?
For me, peripheral neuropathy was sensory, autonomic and finally motor neuropathies. It meant an ongoing fluctuating circus of stabbing and shooting pains in my toes and feet then up the back of my scalp with a scalp that would then hurt to touch, 10 months of pain so intense in my feet it made me cry to walk and hands that I’d wake to find immobile and clawed and stiff, surging pain running up my arms, tingling and numbness in my hands and feet, buzzing running up and down my legs, lips and tongue that lost sensation then turned burning with a permanent sensation of having eaten chillies and everything tasting like salt. It meant vertigo, nausea, temperature dysregulation, inability to sweat, urinary retention and frequency, nursing constipation, tachycardia, arrhythmia, hypopneas, bradypnea, mixed apnea (even during the day and requiring a bilevel ventilation machine at night), blood pressure and circulatory chaos, headache, hypersomnolence. It meant first one leg collapsing, then the other then both, falling up steps, legs going to jelly then sudden surging heaviness making it extremely hard to even lift my feet. It meant waking to find I was like Tin Man struggling to straighten my arms or lift my arm up at the shoulder, getting up from sitting and walking like a 90 year old until I got going. I had times many issues backed off, leaving me relieved and wondering how could it do that and keep returning? Surely it must mean that somehow it was all in my head or that I was somehow doing something to aggravate it. When it was all too full on I couldn’t cope, other times I did what I could to wing it, keep myself involved with life, keep seeing my personhood, keep finding my humor, keep adapting. I couldn’t return to my old life so I started one that I could manage. I went to U3A as probably their youngest member, joined classes then became a tutor teaching art and then drama. It wasn’t just my body I had to manage, it was the impact of this circus on my identity and mood. I needed to keep celebrating life even if my body was haywire.
From 2011 with the Oncologist diagnosing autonomic dysfunction during chemo, to 2012 with the sleep specialist diagnosing Mixed Apnea, the cardiologist diagnosing Orthostatic Hypotention, the Ehlers Danlos Specialist diagnosing EDSIII/IV (I have 4 ruptured relatives), the rheumatologist diagnosing inflammatory tenosynovitis, to 2014 with the Neurologist diagnosing neuropathy, then 2015 with the Opthamologist diagnosing sudden onset diplopia due to a failed eye muscle, then to 2016 with the new sleep specialist diagnosing Hypersomnia, and then the Podiatrist diagnosing Foot Drop, slowly the answers came together. The final verdict went something like this…
Collagen protects the peripheral nerves, in an essential part of immune regulation and is an essential part of forming connectivity in the brain which related to information processing. As a person with the collagen disorder of Ehlers Danlos Syndrome I may already have had some level of altered neuro-cognitive development, immune dysfunction and autonomic dysfunction all associated with this collagen disorder.
Estrogen replenishes collagen. As women get into their forties collagen decreases. Chemo damages collagen and results in menopause. Following chemo I was put on estrogen blockers. This kept me in menopause and reduced my ability to replenish damaged collagen. Part of my immune dysfunction is immune deficiencies and food intolerances. All my brain and spine MRIs could not account for the neurological issues. The picture was beginning to look a little too much like MS. My cousin has EDSIV (she had uterine rupture), survived cancer 3 times, and has MS. My brother has sensory neuropathy. But surely if I had MS it would show on my MRIs? Not necessarily. 5% of those with clinical MS have a normal spine and brain MRI and 10% of those with normal MRIs go on to develop MS lesions in future MRIs within 10 years. Then I found this 2015 Neurology Journal article titled Coexistance of Ehlers-Danlos Syndrome and Multiple Sclerosis which cited:
“Ehlers Danlos Syndrome is a rare, inherited disease characterized by disturbed collagen synthesis and enzyme dysfunction. Central nervous system involvements are remarkable, mainly in vascular type EDS (EDSIV). However, only one study could be identified that examined the potential association with MS, and it was emphasized in this study that MS prevalence is 10 to 11-fold greater in EDS patients compared to general population.”
I see the neurologist again this July. This time I have objectively observable diplopia in my left eye and foot drop in my right foot. Perhaps she finally have a conclusion that makes sense of this neurological circus.
I acknowledge Aboriginal and Torres Strait Islander people as the Traditional Owners of this country throughout Australia, and their connection to land and community.