My parents got to take me to Disney World this fall and I absolutely loved it! I had so much fun! A week of no therapy and no doctor's appointments. Just getting to be a family in the Happiest Place on Earth
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.
Our story
When Quinn was born everything seemed ok but some concerns started to occur. He had difficulty feeding and low tone which made his milestones start to slow down. We spent a week in the NICU and several months trying to figure out his feeding troubles. It was scary and stressful wondering why your baby won't eat enough to grow properly. Quinn also started havinig some G.I. troubles and his milestones slowed more. We received a diagnosis of Bainbrige-Ropers Sudrome (ASXL3) on November 29, 2023 (the same day Quinn had surgery to place a G-tube). Quinn now receives weekly Physical, Occupational (Feeding), and Speech therapy along with monthly visits with a dietician. Quinn had made incredible progress and is using a reverse walker to get around now! He is such a happy, silly guy and we are so proud of him. We know that the future holds a lot of unknowns and a lot of hard days and moments but he makes it all worth it. We have learned that there are a lot of unknowns but when you don't know anything for certain anything is possible.
That’s the difficult reality for families like us, and hundreds of other families around the world living with ASXL-related disorders. But with the ARRE Foundation there is hope for answers.
The ARRE Foundation is bringing together the doctors and researchers needed to build the body of medical knowledge that will guide the care of kids like our and help them live to their fullest potential.
Please invest in families like ours by making your donation today.
Why we need your support
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.