Realizations about my CD happen so randomly. It was only during my long training days in the mountains (3+ hours) that I found a magical peace with my brain. I cannot explain it, but the dystonia will stop for upwards of 30 minutes. Imagine yourself in the most intense game of tug of war and then the rope goes slack. That’s what it feels like. A rare white flag surrender, relaxed neck, deep breaths. The scientist in me screams why? Is it fatigue? Is it calm? Is it dopamine? What happens to a body at these distances and intensity that stops dystonia dead? And since finding people crazy enough to run in the mountains by choice is already a stretch, I know no one with dystonia to see if it happens to them too.
Life with a rare disease is full of these ‘I dunno’ kinda moments. With my doctors, it feels like we are stumbling and bumping about together in the biological darkness.
Here are some observations that make my ‘Why does this happen list’ about CD:
- The dystonia stops when I sleep and yawn
- There are multiple places I can press on my neck and face which temporarily shuts off my dystonia
- If I think (just think) about moving – like a workout to do – the dystonia gets more intense
- Running uphill causes worse dystonia than downhill, even sprinting downhill
- Any illness makes my dystonia significantly worse, even if it barely qualifies as a cold
- My CD fluctuates predictably with my menstrual cycle
If we all put on our virtual lab coats and start considering disease biology, the curiosity grows. Why is the immune system so deeply intertwined with dystonia? What happens during exercise? Why are women in their 40s far more likely to develop CD? What is the biological interplay between hormones and immune triggers with dystonia? Could these represent novel treatment targets that extend beyond our current botulinum toxin and DBS options? I would happily carry dry ice in my running pack and do timed sample/data collection. Knowledge is worth the extra weight and trail inconvenience. Like many rare disease patients, I would make huge sacrifices to enable meaningful research.
Rare diseases need basic observational science. As an industry, we need to hear about these unexpected phenomena from the patients, study them and elucidate the disease biology. This is what will bring first in class drug development. This is how science changes lives.