One of the more subtle gifts of receiving treatment for a once-untreatable condition is the way the process challenges subliminal notions of 'what's possible'...
I had never encountered a slope that wasn’t a gift. Up or down, regardless of gradient.
Then I crushed a vertebra in the bottom of my back. I remember being suddenly, jarringly confronted with a moderate downhill I couldn’t cope with on a family holiday thirteen years ago. And then another. Since then, assessing the viability of a downward incline has been a slippery, interpretive art, featuring much vertigo.
With Spinal Muscular Atrophy (SMA), a mutation in the Survival Motor Neuron gene means the body doesn’t produce the crucial Survival Motor Neuron (SMN) protein. As a result, motor neurons - responsible for facilitating communication between spinal chord and muscles - get weak and die off. The net effect is progressive muscle wasting.
The treatment I’m taking is called Evrysdi. It’s active molecule, Risdiplam, stimulates a ‘shadow gene’ present in all humans, cunningly named Survival Motor Neuron 2, or SMN2.
While SMN2 has the ability to produce the SMN protein, it only does so in nominal amounts. Risdiplam boosts SMN2’s production levels, creating more available SMN protein, healthier motor neurons, and more responsive muscle cells. It can’t, however, restore muscle cells that have already decayed or turned into fibrous white tissue.
It’s possible to have up to eight copies of the SMN2 gene. More SMN2 copies equals more SMN protein, and more SMN protein generally equates to lower levels of atrophy. I came out on the right side of this particular role of the genetic dice - there’s little doubt I have several SMN2 copies, quite possibly the maximum number.
When Robyn and I first heard of Risdiplam we would get pretty dreamy. If we ever get this stuff, we would say to ourselves, we are gymming every day. Every single day. All day if possible. We’ll take this thing it as far as it will allow this body to go.
Well, we got it, and it turns out real life doesn’t allow ceaseless exercise. Work gets in the way. So do many other things. Also, perpetual gym is tiring. Mentally as much as physically.
Even so, we have put in plenty of hours in the last four months. I have already written about the changes to my core strength and back, but thus far we haven’t been able to get my legs to come to the party. This has a lot to do with the fact that I have no quadraceps. Above my knees there is only fibrous white tissue, which means leg improvement has been an intriguingly open question, with the slope outside our back door hovering as a tough, and often quasi-existential, challenge.
Two weeks ago, we attacked that slope. Up and down, up and down, turning mid-slope, down again, up again. Twenty minute slope sessions as a gym warm up, with the single rule being that I should lean on a railing only as an emergency measure. Otherwise it’s Robyn’s shoulder for balance, or bust.
Each day the improvement has been marked, with the benefits immediately manifest well beyond the slope. In fourteen days my walking strength and independent standing levels have gone through the roof. Even without quadraceps, at times I feel like I actually may have thighs.
I have read case studies and reports of people taking Evrysdi saying they feel xx number of years younger. One in particular stuck with me. A man in the USA, in his sixties, with a severe case of SMA Type II, who said he felt 20 years younger after taking Evrysdi.
What does a phrase like that mean? Is it really possible to wind the clock of life back in such leaps? To me, the notion has always felt faintly ridiculous, as if such articulations are just a bit lazy – a poor way of describing nuanced and difficult realities.
But over the last days I just can’t help myself. Walking in a mall, or washing the dishes, or chopping garlic, or, indeed, going down the back slope… are starting to feel like they did a decade ago. I have stability in my body that I had lost touch with. It has come snaking back not as a lost story of the mind, but as an embodied physical experience. My cells are remembering things that had become smokey and opaque, like a childhood dream.
Which has brought on two repeat thoughts.
I know many people with much more severe cases of SMA than mine. They live on the line of what is possible when you only have a couple of copies of SMN2. The fact that I am having this treatment experience and they aren’t is increasingly difficult to process. Where does the roll of the life dice end? When will they get just a single positive outcome? For how many more decades will Neuromuscular Disorder patients living in mid income economies like South African be ignored, as if their illness simply doesn’t qualify for care? For how long will questions like these echo in the air, unheard?
The second thought is a memory from 2019. I had wrecked my right knee – already lacking most of its cartilage from previous incidents – again. We were faced with a challenging daily slope on another family holiday in the Lowveld, but every day the challenge was significantly easier. At the time I ascribed this to the warmer weather, but now, looking in the rear-view mirror, it’s obvious that it wasn’t the thermometer but the slope. Up and down, up and down, every day for five days, sometimes turning in the middle, just like we do now…
How could I have missed this?
Yes, Evrysdi is giving me physical capacity, but I now also understand that slope work on its own, without any treatment, is an ideal exercise for me, with exactly the right levels of challenge and resistance.
Where would I be today if I had been doing slope work for the last thirteen years? This is an intriguing counter-factual, and it also illuminates one of Evrysdi’s more subtle gifts. The treatment has opened up space in our minds, and our hearts, to try. To imagine growth, not degeneration. And to re-imagine a few important but awkwardly cemented ideas – like slopes.
Evrysdi has allowed us to experiment. To push. To dream. And to say to ourselves, right, that step is next! I may well never climb it, but it’s become clearer and clearer through these fascinating weeks that just being given the chance to imagine the process is a powerful treatment all on its own.