Each year, we make holiday donations to deserving non-profits by crowd-sourcing our community for nominees. This is one piece of our ongoing efforts to give back and be good global citizens. You can learn more about our values and other organizations we interact with on our Company page.
For our 2023 holiday giveaway, we took nominations in the categories of Arts + Education, DEI, and Sustainability, and each contest winner received a gift of $1,500. Our randomly-selected organization in the area of DEI was the ASXL Rare Research Endowment (ARRE) Foundation, a non-profit that supports research and education for Bohring-Opitz, Shashi-Pena, and Bainbridge-Ropers Syndromes. These are extremely rare genetic disorders of the ASXL genes that most doctors have never heard of, let alone know how to treat.
About the ARRE Foundation
The ARRE Foundation provides education to parents and caregivers about managing their loved ones’ many medical complications, brings more researchers to the table to study these syndromes, and encourages families to actively participate in research.
ASXL syndromes are ultra-rare neurodevelopmental disorders typically caused by a random change to one of the three ASXL genes (ASXL1/Bohring-Opitz Syndrome, ASXL2/Shashi-Pena Syndrome, and ASXL3/Bainbridge-Ropers Syndrome). They estimate that there are about 500 people currently diagnosed worldwide and many more living undiagnosed.
The three ASXL syndromes have overlapping characteristics on a wide spectrum of severity that commonly includes developmental delay, intellectual disability, feeding difficulties, severe constipation, orthopedic complications, seizures, sleep disturbances, and challenging behaviors. There are currently no treatments for ASXL syndromes other than treating symptoms as they arise.
There is little understanding of the natural history of ASXL syndromes, so doctors and families have limited knowledge of what’s coming next for their children other than what parents learn from each other through online support groups. The only treatments are to manage symptoms as they arise. There is currently limited research interest in ASXL syndromes and their genes, which means families living with ASXL syndromes live in a sea of unknowns.
Learn more about this incredible foundation with their video below and consider your own donation to ARRE today. You can also watch our social channels every year for a new holiday contest and a chance to nominate an organization you care about.