How do we find treatments for ASXL-related disorders? It starts with research.
What if your loved one had a genetic disorder so rare that no one had ever heard of it before -- let alone knew how to treat it? For many families with Bohring-Opitz Syndrome, Shashi-Pena Syndrome, and Bainbridge-Ropers Syndrome, this is their reality.
The ASXL Rare Research Endowment Foundation is trying to change that. Your contribution helps support research and education that improves the quality of life for families living with an ASXL syndrome.
From research grants for scientists to educational events for families, your gift to the ARRE Foundation is supporting a brighter future full of knowledge and hope.
About the ARRE Foundation
The ASXL Rare Research Endowment (ARRE) Foundation is a family-led patient advocacy organization focused on advancing knowledge and understanding of ASXL-related disorders (Bohring-Opitz Syndrome, Shashi-Pena Syndrome, and Bainbridge-Ropers Syndrome) with the goal of developing effective therapies and medical interventions.
We are raising funds for research, building and continuously expanding the network of clinicians and scientists who are committed to studying the ASXL genes and their associated disorders, developing resources for clinicians and parents to improve clinical outcomes, and facilitating collaborations among health professionals who have experience treating ASXL syndromes.
About ASXL-related disorders
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). We estimate that there are about 500 people are currently diagnosed worldwide and many more living undiagnosed.
The three ASXL syndromes have overlapping characteristics on a wide spectrum of severity that commonly include:
- developmental delay
- intellectual disability
- feeding difficulties
- severe constipation
- orthopedic complications
- seizures
- sleep disturbances
- 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.