I was officially diagnosed with Stiff-person syndrome in 2017, but the onset of my disease was when I was 20. I was in college at the time and had to drop out because I was having pain and trouble walking. Then began horrible, twisting, pulling, contorting muscle spasms that could last hours on end. It would feel like my tendons were about to tear apart, and there was nothing I could do but wait it out until the next one came along.
Thankfully, I am lucky enough to have found treatments that work for me and have improved my quality of life by miles. I go for infusions every month and another infusion every six months. I still rely on a wheelchair for any sort of long distances and face my challenges with my muscle spasms, but they are much less frequent thanks to the treatments I’m on. This disease causes a lot of pain, but I am so grateful for the improvements I’ve made with finding the right treatments.
When you have a rare disease, you face two challenges: One being the illness itself, and the other, living in a world where so few people understand what you’re up against. I’d like people to know how important it is to learn about rare diseases when they have the opportunity. The power of feeling understood and seen is underestimated. It can get very lonely living with a rare disease, and having support for your disease, whether that means other people learning about it or sharing about it, means the world to those of us in the rare disease community.
I recognize that having had the means to get the right diagnosis, and to be getting the treatments that have changed my life for the better, is a privilege. I wish for a world one day where everyone, wherever they lived, no matter what they could afford, and no matter what they looked like, could have that privilege and access.
I feel like it is important to spread awareness for rare diseases so that those of us who live with them can feel less alone. Spreading awareness is also important because I am hopeful that the more people know about rare diseases and the more talked about they are, the wait for a diagnosis might lessen. For me and for others with rare and orphan diseases, it took many painful years.
For Rare Disease Day this year, I’ll be posting about Stiff-person syndrome on all my platforms and reminding everyone that it’s only one of many rare diseases that need awareness!
