Rare Disease Day
Image description: A photo of Kae leaning on a shelf, wearing a white tank top, black belt and beige cargo pants. Both her hands loosely resting on her belt. She wears a neutral expression as she looks into the camera. Her straight hair is all moved to one side. Dark green lettering for “LGMD2B/R2” is broken into each corner of the image as a graphic design choice. “Limb Girdle Muscular Dystrophy 2B/R2” is also in green text, written out on the right-hand side of the image. A vertical strip of a white zebra pattern is behind Kae which is a symbol of rare disease patients.
Image description: A quote by Thomas Jefferson in 1786 in black text on a textured paper background, “Who then can so softly bind up the wound of another as he who has felt the same wound himself?”.
Today is Rare Disease Day. 🦓🧬
I live with Limb-Girdle Muscular Dystrophy, a progressive muscle-wasting disease with no known cure. I was diagnosed in my teenage years and hid it for as long as I could. Now, I intentionally have it in my bio and openly write about life with MD for everyone to see. I’ve come a long way since my days of internalized ableism; my formative years were full of fear, shame, anxiety, ignorance, and isolation. Eventually, I found the courage to share my story. Self-advocating began out of necessity but later grew into a passion for helping others to not feel alone—I never want anyone to endure what I had to go through.
The internet is the first place to start when seeking health/healthcare information, resources, and support, and people use social media to find others with the same health condition—which is how I found my community. Currently, approximately 1175 people worldwide are confirmed to have LGMD2B/R2, including myself (source: Jain Foundation). Rare disease patients are often neglected due to our limited patient population and therefore, funding is hard to secure. With more awareness and patient advocacy, it will incentivize pharma and biotech companies to focus on us. We matter, our numbers matter, and we can begin to close the funding gap to accelerate developing therapies.
TLDR: if you’re part of the rare disease community, find and sign up for your patient registry and stay connected. If you’re not, hear us and see us. Be our allies and support; we’re stronger together. 💚