Rare Disease Day

Rare Disease Day LogoToday is Rare Disease Day, an international day of observance to raise awareness of rare diseases (described on Wikipedia as “any disease that affects a small percentage of the population”).

I have a rare disease. It’s called Chronic Inflammatory Demyelinating Polyneuropathy. Fortunately, there’s an acronym for that: CIDP. I was diagnosed in April 2013 after having felt the symptoms for several years, and having been to several doctors, none of whom had any idea what was going on.

CIDP is an an autoimmune disease in which your body’s immune system gets confused and attacks the insulation around of the nerves in your peripheral nervous system. The results vary from person to person, but in general it means reduced sensation and/or motor control in the extremities (hands and feet, although it can extend to arms and legs). It is not contagious. There is no cure, although remission is possible; as is relapse.

If you’ve ever heard of Guillain-Barré Syndrome (GBS), CIDP is considered the chronic counterpart to that acute disease. In other words, GBS hits quickly and hits hard. GBS patients are usually paralyzed for days or weeks, and then they make a gradual improvement and are eventually cured, with most suffering no lingering effects. CIDP onset is slower (usually weeks but it can be months), there is usually no paralysis (largely due to effective treatment), but there is also no clear recovery path. Some people go into remission; most don’t. Some people are hit hard enough to require walking aids or even wheelchairs, and many end up on long-term disability. Many qualify for the coveted “handicapped” sticker, which gives them better parking options, so it’s not all bad.

Fortunately, I seem to be on the “mild” end of the spectrum. I receive regular treatments at the Montreal Neurological Institute (“The Neuro”), which consists of intravenous infusions of human immunoglobulins, derived from the plasma of all those excellent people who are kind enough to donate blood. My current treatment regime sends me to the Neuro every three weeks, where I spend about four or five hours plugged into a machine similar to what’s used to give chemotherapy to cancer patients. Thank goodness for Wifi and Netflix.

As a result of the treatments, I sometimes look a bit drunk when I walk instead of always looking a bit drunk. In particular, my right foot sometimes “flops” when I walk instead of always flopping when I walk. There are days when I can barely hold a pencil instead of never being able to hold a pencil. I can still ride a bicycle, but I use extra large pedals to help keep my feet from rolling off.

If you see me using a fork in a Chinese restaurant, don’t judge. It’s likely one of those days where my hands are simply not cooperating, so using chopsticks is out of the question. On other days, chopsticks are fine. Mostly. Soup dumplings are particularly difficult, but I don’t think that’s a CIDP thing.

All of this is largely invisible, thanks to the treatments I receive at the Neuro and my good fortune to not be severely affected by this disease. Many of the afflicted people I see in online forums, and the Facebook group for people with CIDP, have it much worse than I do. On the plus side, it has increased my tolerance for ambiguity, as I now understand how an appendage can be painful and numb at the same time.

On this Rare Disease Day, I also want to talk about what I’m grateful for.

I’m grateful to the doctors at The Neuro for figuring this out. It took several neurologists, a bunch of EMG tests, some MRIs, a battery of motor- and coordination tests, a nerve biopsy, a lumbar puncture (i.e., spinal tap), and a good hunch, but there it is. Nailed it.

I’m grateful to the nurses in The Neuro’s day clinic for their good humour and professionalism. They listen when I have a concern, and they’re always on the spot when the machine beeps.

I’m grateful to my employer for granting me flexibility in my work schedule. I started working there before my diagnosis, when I had flexibility built-in because I was on contract and billing only for hours worked. But when I transitioned to a permanent position (post-diagnosis) they understood my situation and my need to be away from the office on treatment days. We came to an agreement that works for both of us. I have known employers who treated their employees with resentment and disdain, who never would have offered such an arrangement. My experience here was the polar opposite.

I’m particularly grateful to Martine, for accepting my “new normal” and all the aggravations that go with it, such as my constant grunting and groaning as I move around on my leaden legs, or my reduced mobility in terms of needing to be close to the Neuro for my treatments every few weeks (so much for living in Berlin for a year). That’s not what she bargained for when we hitched our wagons together. (Is there an emoji for this?)

A few takeaways:

  • Although rare diseases are (ahem) “rare,” there are plenty of them, so you probably know someone with a rare disease, even if it’s invisible.
  • Mobility aids like wheelchairs and “handicapped” stickers are not just for paraplegics. There is a range of diseases and conditions that can make it difficult to walk sometimes or maybe always, or that make it difficult to walk very far. Don’t judge when you see someone get up out of their wheelchair and walk a few steps.
  • Yay Canada. I don’t pay for my treatments, but a lot of U.S.-based people with this disease struggle to get them. Even those who have insurance often have to fight to get their treatments covered.
  • Give blood.