Rare But Not Alone

Every year our community recognizes Rare Disease Day, which is a day of observance for people around the world impacted by a rare disease. The definition of a rare disease varies from country to country, but estimates for the number of rare diseases found worldwide are usually cited as over 7,000. This is an underestimation of the true number as new disorders are continually being discovered. STXBP1 related disorders (STXBP1-RD) is not alone, and this year’s Rare Disease Day was special in a number of ways. 

Due to 2024 being a leap year, Rare Disease Day was held on its official day, February 29. The STXBP1 Foundation launched the social media campaign #leap4stxbp1 to raise awareness around STXBP1 and strengthen our community all around the world.

Additionally, the STXBP1 Foundation brought back the popular STXBP1 Rare Disease Day T-shirt. It was so amazing to see all the posts about STXBP1 and Rare Disease Day on social media! If you missed out, it isn’t too late. You can still find RARE shirts in the STXBP1 Foundation Store.

Rare diseases also got a huge boost in recognition with the first ever White House Rare Disease Forum on the evening of 2/28, where researchers, regulators, and rare disease community members discussed issues important to the rare disease community. Our own STXBP1 Foundation President and Co-founder, Charlene Son Rigby, participated as a panelist. Check out the blog post on the event.

Rare Disease Day at NIH was also an exciting time. Since my first visit to Rare Disease Day at NIH in 2019, I have watched presentations and panel discussions on topics ranging from clinical trial development to exciting new treatments being evaluated in clinical trials for many rare diseases. This day also gives the STXBP1 Foundation the opportunity to share information about the disorder with researchers, representatives from governmental agencies, and other rare disease organizations. I was proud to wear my “rare” and represent our community! 

The NIH Rare Disease Day presentations were also made available online and can be found at here.

Jackie Steinberg