I became aware recently that a patient suffering from motor neuron disease whom I have been following up at the clinic was admitted for breathing difficulties.
She wasn’t the first patient with motor neuron disease that I had diagnosed from start to finish, but she was the first patient with a likely hereditary form of the disease that I have crossed paths with.
Now, you may not know a whole lot about motor neuron disease.
But I’m sure you remember the viral videos of your Facebook friends doing the ice bucket challenge 10 years back.
Ring a bell?
You might have heard the acronym ALS and how Stephen Hawking defied the odds of living beyond 70 with the disease.
The disease freezes one up, by disintegrating the connections between your brain and your muscles, in perhaps the most sinister way possible.
It does so one limb at a time until it gets to your swallowing muscles, and lastly your breathing muscles — all the while you’re helplessly observing yourself wither away.
She initially presented with a 6-month history of slowly worsening weakness in both her arms.
What was striking was how the muscles in her arms had already thinned down to her bones at the first clinic visit a month earlier.
What was even more striking was that she followed a line of siblings who had suffered from an almost identical disease trajectory.
Losing muscle mass in their arms, followed by the legs, then difficulty in breathing, and lastly an inevitable death within a year.
Two brothers and a sister with identical DNA storylines unfolding before her eyes.
Turns out she descended from a fisherman’s family known as the Danga people who carry a founder gene within their bloodline, while the patient herself has left the seafaring lifestyle to become a fishmonger.
That transition onto land did not change her DNA script.
But what was the most striking of all was the first question she asked me when I broke the bad news to her and her husband: Why me?
That question caught me off guard.
I wasn’t that I did not know how to answer it.
It was how fundamentally naive a question it was.
I mean, she witnessed how the disease took place three full times — her eldest brother, then her younger brother, and then her elder sister.
That’s probably more motor neuron disease patients than a general medical practitioner would see in a lifetime.
What’s more? She witnessed how the disease took place in her own body
And yet she waited six whole months to seek medical attention.
Why me? Really?
I opened my mouth to answer her question.
And I realized — I didn’t know.
Yes, there was a mistake in your DNA which was passed down from your parents.
Yes, the DNA mistake probably messed up some processes in your nerve cells.
Yes, those messed-up processes resulted in your muscles wasting away.
I was caught off guard by how fundamentally naive an answer it was.
That was the best answer I could give as a neurologist in training.
How do the nerve cells die from the DNA mistake?
How did her younger brother develop the disease earlier than she did?
How did the DNA mistake appear in the first place?
I didn’t know.
She was the tenth patient with motor neuron disease that I’ve seen in my year-and-a-half career in neurology.
That’s definitely more motor neuron disease cases than she has seen with her siblings and certainly more motor neuron disease cases than most general medical practitioners would see in their lifetime.
Yet I didn’t know how to ask the simple question that my patient asked me:
Why her?
What’s funny is how this question hasn’t bothered me as much as it has bothered her.
We are obsessed with not missing a differential diagnosis in our training.
We are obsessed with giving all the possible treatment empirically when we are not sure, even though most of these pills are merely tackling the symptoms or at most marginally effective at modifying the disease course.
We are, however, somehow not as obsessed with why some people have this disease and not others and why some people with the disease behave differently than others.
It reminds me of a phrase that my mentor always repeats:
Clinical neurology is easy.
I guess he’s trying to say that we’re not asking the hard questions.
The question that my first patient with likely familial motor neuron disease is asking.
Why me?