Newly diagnosed
Welcome to the ASXL community. We are so glad you found us. The ARRE Foundation has many resources to help you learn about your loved one’s disorder, find the best care, and contribute to the growing body of research to help us better understand these rare disorders.
While there is still much we do not know about Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), and Bainbridge-Ropers Syndrome (ASXL3), you will find a community of families around the world who are fighting to change that.
You are not alone
Join a welcome call
Join an informal, virtual conversation for parents and caregivers with a loved one who has been recently diagnosed with an ASXL-related disorder (ASXL1/Bohring-Opitz Syndrome, ASXL2/Shashi-Pena Syndrome, or ASXL3/Bainbridge-Ropers Syndrome). Welcome calls include a brief introduction to the ARRE Foundation, an overview of resources helpful to newly diagnosed families, and informal discussion with parent volunteers.
Welcome calls are held every two months in English unless otherwise noted. For immediate support or for email support in other languages, please contact Sarah Scott at sarah@arrefoundation.org.
Information for newly diagnosed families
Find support
A 1-minute welcome message for newly diagnosed families from ARRE Foundation founder Laura Badmaev and her son Alex
There is a private Facebook support group for families for each of the three ASXL syndromes. These Facebook groups are warm, welcoming, and full of the collective wisdom learned by families over time.
Some families also have public Facebook pages or blogs that document their lives as they live with a rare and complicated disorder. These can be great sources of wisdom and support as you find “your people.”
Support resources are listed on the following pages:
Read the right things
As you have probably figured out, ASXL syndromes are not well studied. There is not much recent, peer-reviewed medical literature about ASXL syndromes. We suggest using our list of relevant published research as a starting point.
Keep learning
We are building our resource library for families with recorded video trainings and articles. We also host the ASXL Family Conference that is open to all families. We recommend watching the recording for your loved one’s syndrome from the 2021 ASXL Family Conference, which are found in our resource library for families. These sessions provide the most up-to-date information and answer many common questions.
Follow us on Facebook, Instagram, and Twitter and sign up for our newsletter to stay up-to-date on new resources and opportunities.
Family-centered rare disease organizations, such as the National Organization for Rare Disorders, EURORDIS, and Global Genes may also have helpful information relevant to your family.
To learn more about the basics of how genes and genetic conditions work, the National Institute of Health offers a detailed reference guide called “Help Me Understand Genetics”.
Article
What causes ASXL-related disorders?
Find care
Use the ASXL Care Directory to find doctors, therapists, and other medical professionals recommended by families of individuals living with ASXL-related disorders
The doctor told us, ‘Don’t place limits on your son because we just don’t know what he’s capable of.’
— Jamie, mom to Asher (Bohring-Opitz Syndrome)