Rare Disease Day 2020 Recap
Rare Disease Day 2020 Recap
“When you hear hoofbeats, think horses, not zebras”. This well-known saying is what medical students hear as a way of discouraging them from searching for exotic conditions before considering the more common, general ones when diagnosing their patients. It’s also one reason the zebra was chosen to represent the rare disease community in the United States.
Rare Disease Day is the last day in February, this year it was February 29th, and in case you missed the hoofbeats of the STXBP1 community throughout the month, we have the entire recap for you here. STXBP1 Disorders is just one of the 7,000 rare diseases recognized globally and our STXBP1 families are among the 300 million affected by rare disease.
The month of February started out with a T-shirt campaign for Rare Disease Day with two different designs, including “I Love Someone Rare” and “Unique. Special. Rare. STXBP1.”. Follow the links provided if you missed out on a Rare shirt and just have to have one! There were 209 shirts sold and $2,184 raised for research and awareness.
One of our parents, Jackie Steinberg, staffed the STXBP1 table at the National Institutes of Health (NIH) Rare Disease Day Event in Maryland. She talked with scientists, rare disease advocacy organizations, and other rare disease patients. Jackie sported zebra ears and handed out stress balls in the shape of brains (which we have heard were a hit), informational brochures, and pens to help raise awareness.
A Facebook campaign was set up for people to “wear and share” their rare and STXBP1 gear. There were photos posted from all over the US and Canada, and even Honduras and Sweden, in a show of support for the STXBP1 community. Nothing warms our hearts more than to feel love in the form of people wearing our shirts!
The Foundation held a fund drive, announcing they would match the first $4,000 in donations. The amount raised was $5,039 with the first $4,000 matched for a total of $9,039. Add to this the $2,184 from the t-shirt campaign and the grand total raised for research, just for Rare Disease Day, was $11,223.
The STXBP1 Beyond the Diagnosis portrait of Emma was showcased in New York City at the Positive Exposure 109 Redefining Beauty Event for Rare Disease Day. It shared a space with FRAME (Faces Redefining the Art of Medical Education) Film Forum. Positive Exposure 109 was founded by Rick Guidotti, an award-winning photographer who was challenged by the dehumanizing images depicting disease, lacking all humanity. A special, rare experience forced Rick to turn his lens from the more traditional ideas of beauty, to the beauty and richness of human diversity.
Our partners at Clara Inspired made a very exciting announcement on Rare Disease Day. Clara Inspired awarded their first-ever grant of $30,000 to Dr. Zachary Grinspan at Weill Cornell Medicine in New York, who is the Principal Investigator for a potential drug therapy for those impacted by STXBP1. This grant, combined with the $69K grant from the Orphan Disease Center and raised by Lulu’s Crew Team STXBP1, allows Dr. Grinspan and his team to, not only study the drug’s impact on humans, but doubles the clinical trial participant count!
Finally, NORD and the Rare Disease Film Festival posted a new, short film in honor of Rare Disease Day discussing Bad Days, Good Days, and Rare Days in rare disease. Eleven families, including two of our STXBP1 families, shared what was bad, what was good, and how life can be for and with their child. The film covers eight rare diseases. Check it out on YouTube, but you may want to make sure you have tissues handy.
As you can see, the STXBP1 community was out in full force for Rare Disease Day. If you missed out and want to make sure you are included in the fun next time, follow us on our STXBP1 Disorders Facebook page. Oh, and the next time you hear hoofbeats? You can be sure it’s zebras!
