It’s occupational therapy month and I’ve been trying to figure out what I should write my annual OT blog post about. I got the idea for the post this morning on my bus ride home from the grocery store. It came to me as I contemplated punting a cantaloupe that escaped a grocery bag while I tried exiting the bus with my hands full. It turns out what I thought would be a brief visit to the store for a few items quickly became somewhat of a survivalist food storage shopping expedition.
Note to self: stop going grocery shopping when you’re hungry. (why did I think I needed three bags of craisins?)
So there I am, cantaloupeless, with eight bags of groceries in my hands and a full length mirror under my armpit (don’t ask), walking home from the bus stop. My fingers are becoming increasingly numb, anxiety is setting in, and the self-critical thoughts begin. “This was a stupid idea. I should have just taken a cab home.” My back starts seizing up and I can feel the top of my hand lose sensation. I think to myself, “How bad is the numbness going to be and how long will the weakness last? I really hope this isn’t permanent.”
I have a rare genetic neuromuscular disorder called Hereditary Neuropathy with a Liability for Pressure Palsies (HNPP). Don’t worry if you haven’t heard of it – most medical professionals barely know what it is. Only around 2-5 in 100,000 people are affected by it. It is a disorder of the peripheral nervous system that involves numbness, loss of muscle function, and pain in the limbs. The symptoms are caused by nerve compressions and can last a few days, months, or they can be permanent. Given its rarity, it’s a poorly understood illness.
It’s something I’ve dealt with my whole life, but I only got diagnosed a few years ago after having some genetic tests done. The first significant episode that I can recall was when I was a kid and had broken my leg. Being a lazy adolescent, I would often just slouch and rest on my crutches. Unbeknownst to me at the time, this pressure under my armpit damaged my nerves significantly. I remember realizing something was wrong when, one morning at breakfast, I reached to grab a cup of orange juice. I couldn’t muster the strength to grip the cup, let alone pick it up, and the cup smashed on the floor. It was pretty alarming. I didn’t understand what was happening. I visited my family doctor who told me that I just pinched a nerve. That pinched nerve and the associated muscle weakness and numbness lasted about 9 months. During those 9 months it was hard for me to get basic things done. Over the course of my teens I visited various neurologists and sat through many painful nerve conduction tests, and none of the doctors could really explain what was happening.
When I finally saw the geneticist in my late twenties and got the diagnosis, it was weirdly relieving. I found it quite validating after years of thinking what I was experiencing wasn’t real. But, it was scary too. The reality that I had an irreversible genetic mutation made me realize that the consequences were also very real. I live day to day knowing that there’s a chance that my next palsy might be permanent – and so, it is a constant and delicate act of balancing risk aversion and just living my life as carefree as I can. My genetic counsellor advised me that where I could, that I should take precautions. That I should avoid doing things that would aggravate my nerves. He told me one story about how another patient of his (who at the time of his trip didn’t know he had HNPP) went backpacking with a heavy pack which extremely compressed his nerves and essentially lost all function in his hands and arms permanently. Before my visit with the geneticist I had started exploring the possibility of hiking the West Coast Trail that summer. Realizing that I really enjoyed using my hands and arms and that I probably didn’t have the resources to hire a sherpa to carry my pack, I quickly cancelled any plans I had.
The prognosis is highly variable for HNPP. It appears to present in different severities. There isn’t much out there in the way of coverage, but this BBC piece details the severe symptoms one woman with HNPP experiences. I would guess that I have “moderate” symptoms at the moment, but that can change with time from what I’ve experienced so far.
HNPP is incurable and there are currently no medical treatments. I’m guessing the big pharma companies don’t see much of a cash crop with a disease that has an incidence rate of 2/100,000. In terms of “treatment”, you get a diagnosis from a doctor and pretty much get told to “be cautious” and avoid activities that can aggravate your nerves. And that’s not to say doctors are falling short. There really isn’t much they can do. In my own research, I found that occupational therapy was one of the only things that could help. OTs won’t stop at telling you what you can’t do – using a strength based approach, they’ll tell you what you can do and how you can do it. In terms of symptom management, OTs can help develop splints to decrease pressure on nerves; they can do ergonomic assessments and adjustments to ensure proper posture and work habits (which is important for me as I spend most of my time sitting at a computer for my PhD); and, in the unfortunate event that function is severely compromised or permanently lost, they can provide assistive devices.
As I get older, the disorder seems to be getting worse. It takes less pressure to cause numbness and weakness, and the symptoms tend to last longer. I’ve lost strength and sensation permanently in various parts of my body. Due to this, my gross and fine motor skills are pretty impacted, which has affected many of my activities of daily living. Buttoning up shirts can be challenging (not that I need any more excuses to wear t-shirts every day…). Opening jars can be hellish. I’ve been wanting to up my guitar skills but those chords that require the pinky are pretty much a write off. I’ve stopped playing competitive basketball as my muscle weakness in my legs has made it pretty easy for me to twist my ankle. Leaky nerves make fatigue a constant issue which is exacerbated by poor sleep. Sleeping is challenging for me, as sleep is when a lot of nerve compressions can occur. I get woken up throughout the night by the pain and numbness that comes if I spend too much time in one position. These are just a few of the issues that come with HNPP (for me at least).
As I reflect on what it means to have HNPP, I realize just how necessary and special occupational therapy is. I don’t think I truly appreciated the importance of occupational therapy until I began to recognize how HNPP affected my daily living skills and my engagement in the activities I loved to do. Helping people with those areas are within the domain of occupational therapy. I can remember when I was doing my masters’s, having a bit of a crisis, thinking, “my friends in med school are doing the important stuff and here I am helping people brush their teeth”. At that point, I hadn’t been diagnosed yet and my symptoms weren’t as severe as they are today. Looking back, it’s pretty apparent that my feelings at the time were naive, and really, quite far from the truth. OTs do much more than that. And, my own experiences have reminded me of how we can take things for granted when they come to us with ease. Living with HNPP has been an interesting exercise in reflecting on privilege and recognizing the ableist attitudes that are ingrained deeply in our society.
As my former professor Dr. Susan Rappolt recently wrote in the Toronto Star, OTs appreciate complexity. Dr. Rappolt also says “For those whose health condition changes the way they get by in the world — who no longer have the physical or cognitive levels they are accustomed to — an occupational therapist can make a world of difference.” This rings true for me.
Occupational therapists take note of the fine details in life – such as brushing your teeth or buttoning your shirt. They recognize how engaging in meaningful of activities like playing the guitar or cooking, are necessary to wellbeing. OTs work with people to help enable them to do the nitty gritty small detail things, the big picture “this is what life is all about” stuff, and everything in between. It’s a really wonderful profession that has a lot to offer.
To any OTs out there reading this: thank you for what you do.
My HNPP story is one that is evolving. The nature of the disorder is temperamental and hard to predict. I’m really not sure what to expect with it but I can say that I’m optimistic. My background as an OT has equipped me with an outlook that prefers to see the possibilities in life – and for that I am grateful.
Thanks for reading and Happy OT Month!
…now, I’m headed back to the market to replace that damn cantaloupe…