WAS THE DAY YOU WERE DIAGNOSED REALLY TERRIBLE?
No! I was surprisingly lucky the day I learned I had ALS – the ‘fatal’ form of MND – basically because nobody had to break the news to me. I diagnosed myself. And within five seconds I got expert medical confirmation. What’s more, although it was certainly not the diagnosis I’d expected, I already knew a great deal about ALS and I definitely knew that – contrary to its very bad press – it was not fatal unless you wanted it to be. As did my husband. I’d also already shared with him my view that these days there was a lot of newly-available hi-tech that could make being Locked-In vastly more enjoyable than even just a few years ago. So, I didn’t unduly have to worry about telling him the news when I saw him half-an-hour later. And, as a result, it didn’t disrupt our plans for the rest of the afternoon. All in all, really lucky all around…
WHAT DID YOU THINK YOU HAD BEFORE YOUR DEFINITIVE DIAGNOSIS?
After a year of slowly-progressive paralysis of my legs, pretty well every possible cause had been ruled out. Including ALS. The MRI of my entire brain and spine was clear. My lumbar puncture was clear. My EMG (a legally-sanctioned form of enhanced-interrogation that tests nerve conduction by giving you – what I at least consider to be – excruciating electric shocks whilst asking you to Try To Relax) was clear. An increasingly comprehensive and esoteric raft of blood tests were all clear. My genetics were clear.
By a triumph of elimination, this left Primary Lateral Sclerosis (PLS) – a rare, slowly developing, and largely benign form of MND. So, habitual scientist as I am, I studied the heck out of it.
It turned out, PLS is only a disease of the upper motor neurones, whereas ALS (the far more common, albeit ‘fatal’ form of MND) destroys both upper and lower motor neurones. It’s the loss of the lower motor neurones that causes muscle wasting that, without intervention, terminally emaciates or asphyxiates you. PLS, in contrast, may even leave you able to walk.
WHAT ELSE DID YOU LEARN ABOUT PLS?
Trouble is, PLS is so rare that there aren’t really any scientific papers exclusively about it. Instead, it’s a condition that – on the infrequent occasions that it’s mentioned at all – is mentioned as part of some more general MND research. Usually in the context of ALS.
Long story short, it’s impossible to learn much at all about PLS without as a by-product learning a lot about ALS. And so it was in my case. By the time I was referred to the Head of the MND Clinic at the National Hospital of Neurology and Neurosurgery, I was a walking encyclopaedia on ALS – and I’d also memorised what little I’d been able to uncover about PLS too. This had the great benefit that, although I still felt woefully undereducated on the disease everyone agreed I actually had, I had studied ALS so much that it was self-evident to me that – despite the overwhelming weight of fake news concerning prognosis – the truth was that if you wanted to live with ALS then the odds were very much in your favour that you could. In the absence of anyone else to whom to pass on this fascinating but apparently-irrelevant titbit, I explained it in detail to my husband. He agreed that it was ridiculous the truth wasn’t made clearer. And, more importantly, why wasn’t there more information about PLS.
It was in that state of mind that my husband and I travelled the 200 miles to London for a couple of days of repeat tests.
SO, WHAT HAPPENED IN LONDON?
MRI negative again. LP negative again. Which left me once more reluctantly volunteering to test my pain threshold – or, as my Test Schedule euphemistically listed it, ‘EMG’.
I’d decades before concluded that when having meetings with members of the medical profession the trick is never to have a Patient-Doctor conversation. They’re boring. They’re conventional. And worst of all, I’m treated like a Patient. Instead, after about thirty seconds of traditional chitchat I rapidly elevate the dialogue to one of Scientist-Scientist. I stop talking about me. And start talking about Medicine.
And so it was that I quickly built a rapport with the doctor responsible for my next forty minutes of torture. As she gave a running commentary of my test results, we discussed the science involved. Which was a lot better than simply waiting in stony silence for the next electric shock to come.
GIVE A SPECIFIC EXAMPLE OF WHAT WAS SAID
“Ahh, bit of denervation here.” She was staring at the needle rammed into my calf. Basically, that meant that the single nerve running all the way from the junction-box near my brain to the muscle in my lower-leg had a problem with its insulation. It was breaking down a bit. “Fascinating!” I replied.
Well, it was fascinating. Because the insulation was supposed to be fine. It had been six months earlier when I first suffered an EMG. We carried on chatting about attenuation and myelin sheathing.
“Hmm, looks like another site.” “Really. Well, that’s very interesting then. It’s definitely indicative of a change in the last six months.” I wasn’t faking a cool, calm exterior. That’s the way I think and talk when I’m in Scientist Mode. To be fair, part of me was having an inner-dialogue along the lines of: “Oh! Didn’t expect that, did we?!? PLS is, by definition, now ruled out. Which leaves ALS. Probably. Not yet definitive though…” I’d probably have had a far more cogent conversation with myself if I hadn’t felt a professional obligation to maintain a highbrow conversation with the dominatrix dolloping out the volts.
SO, WHAT HAPPENED NEXT?
I carried on chatting while she carried on shocking and nothing much progressed for about ten minutes. No more denervation. Until we reached the lump of flesh between my right thumb and forefinger. She stabbed it with her needle, which she proceeded to wiggle around a bit as she listened to the static emanating from a loudspeaker somewhere. I knew that the sooner the noise was good and loud the better – because then she’d stop wiggling the bloody needle.
If only to take my mind off her exploratory repositioning of the electrode I demonstrated my limited anatomical knowledge with the words: “Ah, the First Dorsal Interosseous! That’s a common one to go…” Because it is. It’s a classic sign in more-advanced ALS that you can see a long gap between the thumb and forefinger where the FDIO muscle has wasted away.
“Yes,” she said, “and sure enough … yes, definite denervation.” So, that was that then.
Without having time to process anything but the obvious conclusion I immediately replied: “Ahh. So, according to El Escorial, incipient ALS.” El Escorial is shorthand for the internationally-agreed criteria for diagnosing ALS. For example, if in addition to signs of upper-motor neurone deterioration you also show lower-motor neurone deterioration (such as denervation revealed by EMG) in three or more different sites then it’s concluded you definitely have ALS.
HOW DID THE DOCTOR REPLY?!?
Without hesitation. Without thinking. She simply said: “Yes, exactly.” Just as if I were a Medical Student checking a diagnosis. Which was precisely what I wanted.
One second. Two seconds.
“Oh My God! I shouldn’t have said that!! I’m TERRIBLY sorry!!! Are you alright?!?”
I spent the next minute profusely reassuring my guilt-stricken Doctor that I was PERFECTLY OK. And lying to her that I’d expected the result and had merely been seeking confirmation. After all, she’d done exactly what I’d wanted her to do. And I was intensely grateful to her. The diagnosis of ALS not PLS was certainly a big surprise. But, on the back of my Literature Survey, I’d already outlined in my mind what was needed to survive the disease (namely feeding tube and tracheostomy) as well as what was needed to THRIVE with the disease (namely oodles of supercool hi-tech). As I lay back on examination table, and my unintended-diagnostician completed the EMG, I remember thinking two things: I’d better start fleshing out the details of what hi-tech I’m going to need AND how could I best explain the diagnosis to my husband to avoid any risk of upsetting him or unduly delaying our pre-arranged visit to the Ancient Egyptian Petrie Collection located a few blocks from the hospital…
HOW DID YOUR HUSBAND, FRANCIS, TAKE THE NEWS?
Fortunately, thanks to our chats and his own online detective work, Francis was almost as up-to-date with the reality of ALS as I was. As we walked to the Petrie Museum, we agreed that my diagnosis was a Big Deal. But not AS Big a Deal as everyone thought it was. With that sorted, we spent the next two hours luxuriating amongst the tens of thousands of artefacts secreted in a couple of upstairs galleries within an almost-hidden part of the University College campus. We enjoyed it so much, we even bought the exorbitantly expensive catalogue. All in all, it was a highly-educational day.
And, in its own way, a very lucky day too. Mine must be one of the least traumatic diagnoses of ALS in history.