Charlie is our 4 year old daughter who was diagnosed with a rare genetic conditon called Bainbridge-Ropers Syndrome in July of 2022. She is one of about 300 with this rare condition.
We spent the first 2 years of her life looking for answers to her feeding issues, low muscle tone and developmental delays. We were referred to nearly every pediatric specialist to help find answers.
When we finally received a diagnosis, we were not as relieved as we thought we would be. We had so many questions that our geneticist could not answer because there is so little research. He was able to tell us that each case ranges in severity and that individuals with BRS have intellectual disabilities along with speech delay or absent speech, and overall developmental delays such as sitting and walking.
As of today, Charlie does not walk but we know she will so soon. She continues to receive physical, aquatic, occupational and speech therapy. She has also attended two intensive therapies to get her closer to walking and meeting milestones.
Currently there is no cure for Bainbridge-Ropers Syndrome but with your help we can support research and education to improve the lives of families living with this disorder.
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.