Let's Learn a Little About Central Core Disease

TIL there's no common internationally (or even nationally!) accepted definition of what a rare disease is, but that in Canada, the European definition is common: a disease is considered rare if it affects less than 1 in 2,000 people.

A few years ago, after seeing a Rare Disease Awareness Month post from Chronic Love Club's Instagram, I was curious about the stats for Central Core Disease (CCD).

Apparently, CCD is the most common form of congenital myopathy, meaning any genetic muscle disorder typically noticed at birth, which as a group occurs in 6 out of every 100,000 live births. 💁🏽‍♀️

CCD is a neuromuscular disorder where some of the mitochondria in your muscle cells is missing, so it's harder to build up muscle tone and strength. In my case, which is considered mild, I have about 33% of the physical strength of the average person.

My neuromuscular specialist has said that's typically just above someone who uses a cane all the time, but that in my case, since I've grown up with it and adapted to it as my "normal," I'm ✨not a typical representation✨ of 33% strength. (💃🏽)

But if someone were to drop suddenly from 100% to 33% because of an injury or something, they'd have to learn how to walk again. Wild!

I didn't get my diagnosis until I was about 20, after my third muscle biopsy. My "Lauren Says Yay" speech pinned on my profile was about my first biopsy on my leg when I was 10 days old, and I had a second biopsy on the back of my arm when I was about 12.

As a kid, I did a lot of physical and occupational therapy to keep up with physical milestones and strengthen my muscles. I used to not be able to jump off the ground, and I still can't run or do sit-ups or push-ups or a lot of things that feel "normal".

But I'm convinced if I did have 100% strength, I'd probably be fighting crime or queen of the world or something, and I'm just not sure I want that kind of responsibility. 🙃

Just over a week until Rare Disease Day on Feb 28! 🩷🩵💜💚