Day #327: What, When, Where and Why?

“Questions always start with a what, when, where, or why!” proclaimed our six-year-old son during dinner last week, emphasising each word with a fish finger wobbling in his hand.

“Really?” I said, immediately breaking this new rule.

“Who told you that?” asked my wife, gently removing one of his feet from the dining table, only for it to be immediately replaced by the other one. 

“My teacher”, he sighed, poking a neglected blob of broccoli around his plate.  “You see, that’s how you start a question sentence.”

He’s been learning how to structure sentences at school.  Something I don’t think we covered until we were about 14 in the comprehensive education system of the 1990s.

“Well”, I said, “did you know there are other ways, too?”. I was feeling a little bit smug that we’d already found 3 of them.

“No”, he says confidently, “It’s only those.”

This signals an end to that particular line of questioning.  ‘Tis now an issue unworthy of further debate.  There can be no other ways to ask a question – only what, when, where, and why. 

Then his eyes suddenly lit up. “Can I have an ice cream?”

---

A good way to start

What, when, where, and why are great questions to kick-off my first blog post about living with Motor Neurone Disease (MND). 

Being one of the few lucky winners of this shitty lottery, I’ll do my best to give a quick overview of MND, so we can all move on to talk about more interesting things.

---

What?

First up, what is it?

MND is a neurodegenerative disorder, in the same boat as Parkinson’s and Alzheimer’s, except it’s in a terrible hurry to try and kill you faster.

The motor neurones in your brain and spinal cord which are responsible for voluntary muscle movement get sick and die.   Voluntary muscles are those you can consciously control, including your arms, legs, fingers, toes, tongue and diaphragm.

It gradually paralyses those muscles, spreading across your body and getting worse over time, eventually causing them to shrink and waste away.

MND is actually an umbrella term for a collection of related disorders, the most common of which is called Amyotrophic Lateral Sclerosis (ALS).  This translates roughly to: “muscle wasting, cell death in the spinal region containing motor neurones”.  Lovely.

ALS is the fastest progressing type of MND, as both the upper motor neurones (in your brain) and lower motor neurones (in your spine) start spontaneously combusting.  No prizes in guessing which type I have.

ALS isn’t actually all that rare. Each of us has a 1 in 300 chance of developing it at some point in our lives.  On average, 6 people in the UK are diagnosed with it every day.

“Where are all these people?” you might reasonably ask.  Though you might also reasonably regret it. 

You see, they’re mostly rather dead.  Sadly, people with ALS don’t tend to last very long. 

Most die of respiratory failure within three years of diagnosis (about 1,000 days, the title of this little blog site) but the prognosis is highly variable.  Some snuff it within six months.  Stephen Hawking famously lived with ALS for over 50 years.

It can strike any age but it’s most common between 55 and 75 years old.  I was diagnosed at 40, as I was mad keen to avoid the rush.  I’ve already met people in their 20s and 30s with the condition.

Mercifully, MND doesn’t affect your sensory nervous system (sight, touch, hearing, smell, taste) or bowel control.  So by the time I’m dribbling down my T-shirts, at least I’ll still be able to hold in the farts.

For better or worse, MND rarely affects your cognition or memory, leaving you fully “switched on” inside a body which is rapidly switching off.

---

When and Where?

There is no single test for MND.  It’s a diagnosis of exclusion. 

Neurologists, radiologists and phlebotomists will poke, prod and scan you to rule out more benign conditions, until you’re left holding the short straw with a little skull drawn on it.

So, for most people, it takes months (or even years) to get a diagnosis.  For me, it was all done and dusted in 4 weeks.

In late May 2023, I started to get a persistent muscle twitch in my left shoulder.  I couldn’t cross the fingers on my left hand and I struggled to hold down chords on my guitar.

Then, on the 22nd June 2023, I had an EMG test at the Royal United Hospital in Bath and was told, in rather matter-of-fact way, that I had this rotten disease. 

Then I had a cup of tea and cried a lot.

---

Why?

So, why do people get MND?

About 10% of cases are caused by a faulty gene inherited from your parents.  The taxman seems strangely uninterested in taking a cut of this inheritance.

The remaining 90% – of which I am a proud member – are called ‘sporadic’ onset, meaning the medical profession doesn’t have a Scooby Doo what causes it.  Some combination of genetics, environment and lifestyle factors is the best guess. 

There is currently no cure for MND and only one licensed medication called Riluzole, which has been around for 30 years, and extends life by about 3 months…

However, there are reasons to remain hopeful. I cling to these like a desperate limpet…

• There are more clinical trials taking place now for ALS than ever before
• One of these trials resulted in a breakthrough treatment for inherited ALS in 2022
• The ALS ice-bucket challenge in 2014 helped raise badly needed funds and awareness
• Emerging therapies such as Stem Cell Therapy and direct electrical current muscle stimulation look promising
• My own rate of progression has not been too aggressive so far, giving me more time to prepare and fight

---

So…

…yes, you can have some ice cream, my darling boy. 

But only if you get to the tub before me.