From Healthy to Zebra to Unicorn

My story starts with me being a normal, healthy kid.

Or was I? My parents would’ve said so, and so would I, I think. I just wasn’t very strong or into sports… but I did figure skating for a while and danced for over 15 years!

Yet I was also the kid who was always sick, missed 50% of my school year when I was 13 because I caught so many infections, was called the ghost because I was pale and absent so often, and was also nicknamed “cat frame” because I’d injure myself quite frequently too. I’d sprain my ankles regularly and would sprain fingers every year when we played volleyball or basketball in PE. I spent most of my last year of high school in crutches.
But… I was healthy, right?

It was normal kid stuff!
Our GP told my mom I just had a slightly less efficient immune system, but it was normal for kids to catch bugs all the time. I never needed to go to the hospital so I was perfectly fine. Same for my injuries… I just had growing pains, was just clumsy and unlucky.

 

We were wrong. I was not healthy, it was not normal.

At the age of 24, after a viral infection, I developed postural orthostatic tachycardia syndrome (POTS), a type of dysautonomia, and my life suddenly stopped.

It took me years to be diagnosed with POTS and get treatment, and only after I got a diagnosis for the root of my injury problems… which was hypermobile Ehlers-Danlos syndrome.

I am indeed a bit clumsy, but this isn’t the reason why I sprain or dislocate so many of my joints, so often.
It’s because of hEDS.
My collagen is defective and my connective tissue isn’t doing its job!

In the late 2000s, I learned about EDS and about the zebra.

For those unfamiliar, the zebra represents rare diseases in the medical community, as future doctors are often told “when you hear hoofbeats, think horses, not zebras.”
And it makes sense; when they first learn of all the weird, exceptional diseases, they might tend to see them everywhere, and want to be the wonder-doctor to make the discovery that saves the day. The problem is that many go from “all headaches could be brain tumors” to “rare is impossible.”

So, for a while, I was a zebra.

And then, a few years ago, some new symptoms started to emerge.

I was very lucky in that, unlike in the early 2000s, when I got misdiagnosed and dismissed for years, I now had a good team of doctors I could trust and who wanted to help. Yet even then, it took time and some pushing from my part before I got diagnosed…

…with multiple rare diseases on top of EDS!

The first one was primary adrenal insufficiency (Addison’s disease). My adrenal glands stopped producing cortisol and I came close to death without even knowing. We just learned a few months ago that I also have primary ovarian insufficiency and hypothyroidism, which means I have autoimmune polyglandular syndrome, type II… which, of course, is rare.

The following year I got diagnosed with corneal ectasia. My corneas started bending out of shape, probably thanks to my hEDS. It took a while to get this diagnosis because it’s rare, and I had an unusual presentation to top it off.

Finally, I was just diagnosed this year with a yet-to-be-specified autoinflammatory disease, and, you guessed it, it’s unspecified because it wasn’t even in the ones —already rare— they tested for first…

I’d love to tell this story to those who used to tell me “that’s a rare disease, so you can’t have that, it’s impossible!”

What’s rarer than a zebra, I wondered when I got my second rare diagnosis?
Well, a unicorn, of course!

Annie-Danielle Grenier

Annie-Danielle Grenier

I raise awareness, educate and advocate for people living with rare and invisible diseases, having a few myself. I do that mostly as an expert patient and public speaker and through Ma vie de zèbre (My Zebra Life), a blog now turned website that I started in 2013 because I couldn't find much information in French (and none relevant to Québec) about Ehlers-Danlos syndromes, the only diagnosis I had at the time, and I wanted to change that. I'm very active as a patient partner as well, being involved on various committees, and doing things like help change policies, create surveys, educate future healthcare professionals and much more. I used to be a freelance translator (in French and English) and studied in arts and literature as well as in cultural and corporate event organization, worked many years in show business (on stage but also in production) and have a bachelor's degree in psychology. My atypical life experience gives me a different vision that I love to share with people and hopefully inspire, reminding others that life's obstacles are not obstacles to happiness!

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