Many people use the phrase “May you live in interesting times” as a blessing instead of the curse it was intended as. (I was about to quote this as an ancient Chinese proverb but as you can see from the link it turns out that this may be a misconception. Count that as the one thing I learned today). Lately I have truly been living in interesting times, and I do mean that in the way it was intended.
To put it succinctly: I’m broken. And in a fairly insidious, intractable way.
Where to start? I guess I can trace the whole sorry start of this affair back to April some four months ago. I had received notice from the landlord of my old rented unit that I would have to find a new place within five weeks as it had been sold to a new owner who wanted to take vacant possession. You may have heard (or indeed have first hand experience) of the insane condition of the current Sydney rental market. I wanted to try to take this opportunity to move closer to the CBD and closer to work. Fat chance. Any property within my price range in the city was either:
- a shoe box
- a slum
You wouldn’t believe the competition for said shoe boxes and slums either. In the face of a shortening deadline and uncertainty I started looking farther out (much farther) and quickly snapped up a nice, modern unit in Waitara on the fringes of Metropolitan Sydney with a few weeks to spare.
Coincidentally while this was happening I had been offered the opportunity to fill in as the interim Team Lead of the excellent Confluence team at Atlassian due to a little restructuring that was going on. Eager to help out and excited by the prospect of trying my hand at something new, I accepted. The new role proved to be a baptism by fire with the first week raising some interesting and challenging tasks. This combined with the accommodation situation had sent the stress levels a little higher than normal but I felt more than up to it – I hadn’t felt healthier and the opportunity to learn and grow was welcome.
On the day before the relocation date I of course came down with a bad case of Tonsillitis complete with fever and severe fatigue. I felt so guilty and useless on the move date with my gorgeous parents having to do most of the last minute packing and taking care of the final details. I went to see a doctor and was prescribed a course of Penicillin. Pretty much what I expected and almost routine for me; I used to get Tonsillitis fairly chronically as a teenager but this was my first relapse in about three years.
I had taken the remainder of the week off work to settle in to the new place but I ended up using it to convalesce. The antibiotics seemed to take affect on the third day, as usual, with the soreness in my throat retreating. I started unpacking things, returned to work the next week and things felt normal.
Two days after I finished the course of antibiotics my sore throat returned. This precipitated my first visit to new doctors in Hornsby. The new doctor (who was very nice by the way, probably the most comfortable I’ve been with a doctor since moving to Sydney) did the typical flinch when she say my tonsils (they always do) and quickly prescribed another course of the same medication. A resilient case evidently. Halfway through this second course is when things started to get interesting.
On the nights of May 9 and 10, I experienced some severe fatigue after returning home from work. Not just your regular type of fatigue but some sort of mind numbing and irresistible exhaustion. “It’s just the Tonsillitis,” I told myself, “I’m run down”. Then at approximately 11am on May 11 (a Friday) something hit me that I have yet to recover from. It was during Atlassian’s fifth Fed-ex day, an event that I had been looking forward to. I was working away feverishly (metaphorically at this point) on my project when, for want of a better way of expressing it, my consciousness changed, and it certainly wasn’t enlightenment. Everything seemed fainter, further away. I lost a fair chunk of cognitive power and couldn’t concentrate on anything. I was walking around in a daze, it felt like my brain had been replaced with some cretinous, imbecile backup. I was surprised I didn’t collapse in a heap. After some hours of no improvement, I abandoned my pathetic efforts at getting anything deliverable for the Fed-ex deadline and booked in to see a doctor in the CBD.
The conclusion: “No wonder you feel terrible, just look at those tonsils! There’s puss and everything. Go home and get some rest.”
Wow. This must be some killer virus I thought. It was safe to say that I had never felt worse then I did that day. I went back to work, feeling a little bit relieved that the doctor didn’t suspect something more serious, attempted to watch some of the Fed-ex presentations before capitulating and returning home. I collapsed in bed at about 7:30.
When I awoke the next morning something was wrong. I had a headache, which was probably not surprising given the events of the previous day but there was something else as well. It took me a while to figure it out: my vision was wrong. Once that realisation was made it took a few more hours to figure out what was wrong about it. Everything seemed a little blurrier than usual, and things would shimmer a little as if I was surrounded by the heat haze of some mirage. It appeared that my entire field of view was filed with noisy static, not at all dissimilar to an untuned television.
I do suffer from the very occasional ocular migraine, a condition where the migraineur experiences the aura of classical migraine but without the splitting headache afterwards. This kind of felt like the transition between the final stages of my usual migraine aura and the start of the after effect where I feel a little dopey and fuzzy in the head. I thought that maybe I had just suffered a particularly potent version of a migraine the day before and needed to ride the after effects out. I took the first few days of the next week off work to rest. When the symptoms hadn’t subsided by the following Monday, I saw my local GP again. At this point my tonsils were still swollen despite finishing another course of antibiotics so the doctor concluded that it was likely some reoccurrence of glandular fever which can have associated migrainous symptoms. To exclude more serious pathology she took some blood and ordered a full blood count, testing of liver and renal function, as well as testing for Epstein-Barr virus (the virus behind glandular fever) and Cytomegalovirus (a virus which can cause symptoms very similar to glandular fever). The test came back the next day, of course, fully normal. She still suspected glandular fever (despite no antibodies being found which would indicate a current acute infection) which I found a little odd. Still feeling well below par and having had the same vision problems and headache for a week, I took the rest of the second week off to recuperate in Newcastle where my parents would look after me.
By the end of that week I was feeling marginally better and hoped that I was on the road to recovery. I returned to Sydney and returned to work on Monday. On the train back home afterwards is when things turned very interesting.
First a small bit of background (the entire story would probably be worth another post): eight or so years ago during a slightly similar turn of events I was diagnosed (or at least this was my understanding as of a couple of weeks ago) with an idiopathic peripheral neuropathy. Peripheral neuropathies are conditions affecting the peripheral nerves, the nerves that run from your spinal column out to the various extremities of your body. Motor nerves that are responsible for sending signals from your brain to your muscles and sensory nerves for relaying external sensations back to your brain. My neuropathy was mainly affecting my motor nerves and mainly the nerves to my lower legs. I have basically no calf muscles to speak of, walk with an abnormal gait and can’t stand on my toes. None of these things bother me in the slightest any more. Some neuropathies can also affect the sensory nerves resulting in various parathesias and dysthesias such as numbness, tingling, pins and needles and burning sensations. There are horror stories of people with sensory neuropathies so severe that merely the touch of a sheet on their feet inflicts agony. For my part my sensation was pretty much normal (hard to verify objectively of course). I did have a little bit of a reputation as being resistant to inflicted pain in the extremities (thanks High School!) but I didn’t view that as abnormal, just that I had a higher threshold for pain. This condition had shown no obvious change over these last eight years. In fact, if anything, it had gotten slightly better as the constant muscle twitches I had been experiencing originally had faded away to barely a flicker.
Imagine my delight when, on that train, my left big toe started tingling. It didn’t stop there. Over the next three or so days the sensation had spread up the full length of my legs, was affecting my hands, arms, neck and head alternating between numbness, tingling, prickling and burning. Up until this point I had been considering various nasty pathologies for what I had been experiencing such as Leukaemia, Multiple Sclerosis and Chronic Fatigue Syndrome. I never once suspected that my neuropathy may have been involved.
Crestfallen, I booked in to see my GP to report the latest event, and he referred me to a neurologist. I was lucky enough to be able to book an appointment with the neuro within 2 weeks as someone had cancelled but during those two weeks I had one night of fairly bad headache, visual symptoms and parathesia. Fed up and totally exhausted I checked in at the local emergency department where they ran more blood tests and took a CT scan of my head. After some initial concern about a white spot on the right side of my brain, they declared everything normal and told me to follow up with the neuro. In the interim I also consulted an optometrist who declared my eyes to be healthy and my retina as “very sexy”. He still prescribed glasses for computer work just in case that was the problem.
The neurologist patiently listened to me deliver a blow by blow account of what had been happening over the past couple of months, with events given on an almost daily granularity. He arranged a brain MRI, intra-cranial MRA and a Visually Evoked Potentials test to evaluate the status of my optic nerves. He seemed hesitant to say anything until he had my records transferred from my old neurologist in Newcastle. He scheduled a follow up appointment for four weeks later. He did mention that my optic nerves seemed a little red from his visual examination (optical neuritis? A hallmark of Multiple Sclerosis).
In the meantime I had the VEP and MRIs done. During the next four weeks there was no change in my vision or headaches. I still felt totally off in the head but at least I wasn’t getting hit by some of the zombie like states I was experiencing early on. Unfortunately the slight tremor that I have always had in my hands increased significantly and I was finding walking more difficult than usual, especially climbing stairs. My typing became clumsier and I could no longer keep my thumbs poised above the buttons of my video game controllers without them shaking madly. I started to consider another wretched possibility: Parkinson’s Disease. Was I imagining it? Was it just the exhaustion? Were my motor nerves deteriorating more? While I was interviewing a candidate for a new position at work, I repeated a question that my co-interviewer had just asked. I had clicked off because a few minutes earlier I noticed that I could see a distinct halo like glow around the candidate’s head. More misery: the slight tinnitus that I have with my hearing was also getting worse and I noticed that I was slurring and stuttering a little. I basically felt like the cartoon character that gets gonged with two large symbols in the head except my head vibrations never stop. Constantly concussed.
Somehow I managed to make it through the four weeks to the next appointment with my neuro. During this session he went over my records from Newcastle before examining all of my MRI slides and VEP results. These confirmed that I do indeed have a brain (still) and that my optic nerves are apparently functioning to specification. In other words I am completely normal with respect to how my central nervous system looks at the level of detail that MRIs allow.
In the end, my neurologist’s bullet point diagnosis list to my GP has no less than five points on it:
- Axonal sensori-motor neuropathy
- Migraine equivalent
- Panic attacks
Then that was it; I was prescribed some medication that is meant to address the neuropathic pain and I was quickly shown the door. I asked the neuro if he wanted to start an annual check-up similar to what I was doing with my old neurologist in Newcastle and he replied “that he would be happy to”. I got the distinct feeling that neurologists are more than happy to see the back of people with cases like mine.
I should clarify the first bullet point on the diagnosis list. The latest diagnosis is that I have Type 2 Charcot-Marie-Tooth disease. This disease is an insidious, inherited, degenerative disease of the peripheral nerves with typical onset in the first or second decades of life and a generally slow progression. It typically affects the more distal parts of the nerves (i.e. the parts towards the extremities of the body) and is more pronounced in the legs than the arms. The two main types of CMT are:
- Affecting the fatty, myelin sheaths surrounding nerves, slowly damaging and stripping it away from the underlying nerve or axon (demyelination)
- A malfunction of the nerve axon itself (axonopathy)
I won’t go into any more of the gory details, there are plenty of resources on the internet that explain the disease.
As there is no history of affliction in my family (neither of my parents have it, nor does my brother, thank the universe) it is suspected that I have a form inherited in an autosomal recessive pattern (AR-CMT2). CMT is one of the few diseases that can be passed on via all of the major modes of genetic inheritance: autosomal dominant, autosomal recessive and X chromosome linked inheritance. As some of you may remember from biology classes, recessive diseases arise when two parents who each hold one normal copy of a gene and one defective one (this arises as most complex biological organisms hold two copies of each inherited chromosome, one from each parent) and a child inherits the defective copy from each parent. The probability of a child of two carrier parents being afflicted is twenty-five percent. The other probabilities are:
- fifty percent chance of being a carrier (inherit one defective copy and one normal copy)
- twenty-five percent chance of being diseased gene free (inherit both normal copies)
So as you might appreciate there is still a certain amount of misfortune in being affected by a recessively inherited disorder even given two carrier parents. When you also consider the fairly long odds of two carriers of a defective gene associated with AR-CMT meeting and having children you start wondering whether you are seriously overdrawn at the luck bank.
However there’s another possibility that does not involve inheritance: random mutation. From my limited reading of the literature available the most common form of CMT (Type 1) does frequently also arise via mutation. It’s easier to identify in that case as the gene responsible is easily tested and if no parent has the gene the only remaining explanation is mutation.
Now onto another element of the diagnosis: migraine equivalent. As I mentioned previously I suffer from a fairly infrequent ocular migraine that affects me maybe once a year on average. When I first experienced one of these it was extremely frightening but after a few occurrences I learnt the effect was always only temporary, lasting on the order of half an hour, and at worse I would be left with a little bit of fuzziness in the head which would resolve with a good night’s sleep. Let me tell you that having migrainous vision constantly for over three months is somewhat more disturbing.
What I am experiencing at the moment sounds a lot like a condition known as Persistent migraine aura without infarction. The “without infarction” bit simply indicates that the symptoms aren’t the result of a stroke. Up until a couple of months ago I had no idea that there were pour souls on this planet that suffered from constant, non-stop migraine aura. I wish I still didn’t know.
There are four main symptoms I have related to this:
- Visual snow and more persistent after-images
- Increased tinnitus (ringing in the ears)
- Some speech difficulties (slight stuttering and slurring of words)
- Some form of constant headache
At the beginning of this whole drama and for a couple of weeks afterwards I was also having bizarre episodes where I felt like a total zombie, unable to concentrate on anything with a weird sensation of almost not being in my body, as if viewing events from afar. Thankfully I haven’t had a recurrence of this state since.
I find the diagnosis of migraine equivalent a little puzzling. It just seems too much of a coincidence that I developed it two weeks before the sensory symptoms of CMT kicked in. I’ve read that CMT rarely affects the Central Nervous System but I just can’t kick the feeling that it’s related. Could the axons in my brain be similarly affected? CMT typically affects the distal parts of the very long nerves of the legs and arms but I get fasciculations and sensory abnormalities all over my body, which would seem to indicate that perhaps it isn’t just the long nerves affected. What about the very much shorter axons of the brain? Who the hell knows?
I’ve had a very hard time dealing with this assault on several fronts. If my head hadn’t been so afflicted I probably could have dealt with the peripheral sensory symptoms much more effectively. As such some nights I was returning home to an empty apartment, my body wracked with numbness and burning all over, my vision snowy and flickery, my head feeling like it had no brain in it. I would occasionally collapse on the floor and just bawl my eyes out for an hour or so. Normally you would expect to feel better after a good outburst of emotion but I didn’t: I felt exactly the same, stupid and cretinous. I eventually didn’t even cry anymore, there was no point. I would just sit in the gloom, numb, listless, hopeless, in despair. There was no relief in anything. The old fallback of going to bed and sleeping was a scary option as I couldn’t feel the sheets properly anymore; they provided no comfort and prickles would run up me from my toes to my face. Mercifully, once asleep, I felt nothing, but would often awake a few hours later, my forehead and neck feeling numb and desensitised. I would stumble into the bathroom, furiously pinching and gouging my forearms, trying to evoke a response which only came at the point of drawing blood. The pain was faint and alien, a distant, imperfect simulacra of the pain I was accustomed to. I felt trapped in a body that was dying around me and every day would bring some new and terrifying sensation. I’ve always been, I feel, abnormally scared of dying, but now I was also terrified of living. I started making absurd bargains in my head: how I would gladly trade being able to walk if it would end the relentless tingling and burning; anything to kill the phantom colony of ants that were on the march under my skin. Of course there was no reason why I couldn’t end up with both. Even worse than the burning was the occasional random stabbing pains that would shoot through my feet or legs, like lightning being conducted along the nerve that would strike from nowhere, a pain so intense that it left me breathless and would cause me to involuntarily recoil. As bad as everything else was those were the worst. Even scarier was that I could tell that there was still capacity for even worse pain.
So where does this leave me now? Had I ended this post on the night that I started it there would have been nothing but despair. I would have posted it in the faint hope that it would have made me feel better, however slightly. I’m glad that’s not the case. I’ve noticed over the last couple of weeks a slight upward trend, the symptoms seem to be retreating, I suspect a combination of medication taking effect and general adaptation; the human body seems to be amazingly adaptable even in diseased states. All of the symptoms are still there but they seem weaker and infinitely more bearable. I remain more easily fatigued and I find myself using the hand rails on stairs more. I still don’t feel like the person I was before the 11th of May, I’ve been changed at some fundamental level.
Last Friday I received a pleasant, welcome surprise. At Atlassian we were having birthday celebrations for a few of our colleagues and giving a few gifts to a couple of guys who are getting married shortly. There was a third, and totally unexpected presentation to me in thanks for taking the interim position of Confluence Team Lead. They had arranged a two week trip for two to Thailand. I was dumbfounded. It was a privilege to be offered the opportunity in the first place and it was far from necessary to thank me with such an awesome gift. I just wish I could have been the energetically proactive person that the role and team deserved, rather than the weakly reactive one I had been. I had to use most of my will to keep the emotion in check. I am truly fortunate to work for such an amazingly understanding group of people.
When I got back to my desk I opened the included card, read through the kind words it contained and immediately had to tear off to the restroom where I burst into uncontrollable tears. These weren’t the evil tears of the last three months; they were because I at last was feeling some relief. Coincidentally that day had been the best I had felt physically and mentally for quite some time. There was something else: I was looking forward to something again, something only a few weeks earlier I would have thought impossible. For that I was so deeply grateful.
While this story is still in progress, I’m starting to see some things with clarity:
- I need to try to do all of the things I want to soon and stop putting things off. I may not get the opportunity to enjoy them later.
- My career as a software engineer may be shorter than I would like. This is not a certainty of course but given the increase in severity of tremor in my hands it is possible that my typing will be adversely affected before I’m ready to give it away. Some CMT sufferers have significant weakness in their hands and contraction of the finger muscles by my age so I am somewhat fortunate. I need to make preparations now so that if that eventuates I am not left destitute.
- I need to take better care of myself. I need to take the things that I can control and change them for the better. Diet, exercise, sleep. I’m really starting to realise now that I am not built as well as everyone else and as such there are some things that normal people can get away with that my body just won’t tolerate. I’ve discovered just how much of a role physiotherapy can play in trying to keep the functions that I have in my legs, arms and hands for as long as possible. I’ll be setting up sessions with a physiotherapist as soon as I can.
If you’ve read this far I thank you for your time and attention. I was considering not posting this, I hate appearing so vulnerable and weak. However there may be value in this, if not for me, then for others who may have similar experiences. Misery enjoys company, and there has certainly been some misery here. The main problem with this disease is that you have very little to show for it. You look relatively normal on the outside and anything but on the inside. It’s hard to find words to articulate the feelings and symptoms to doctors, to those around you. Neuropathic pain and sensations are qualitatively different from regular nociceptive pain, and I can certainly vouch for that. If anyone reading this has had similar experiences, I understand.
I’m not going to spend too much time going back over what I have written here, nitpicking minor defects and problems, rewriting sections and choosing different words. Life is far too short to waste time on such things and I’ve still got so much left to do and learn; maybe one day I’ll even learn how to use a semicolon appropriately.