Newly Diagnosed
ARA is happy to help you connect with the patient community and provide you with valuable resources and information.
If you or a loved one was recently diagnosed with a genetic alteration in the ATRX gene, there are a few immediate things you need to know:
1) YOU ARE NOT ALONE.
There are more than 200 families around the world with reported disease-causing variants in the ATRX gene. Many families have come together to form online communities. We have a large private family support group on Facebook, as well as smaller region specific groups where you can connect with folks by location. Additionally, we have an ARA Facebook group where you can be part of the ARA team and stay up to date with the latest news. Click below to jump to our Patient Community page where you will find information regarding the various Network organizations throughout the globe who support the ATRX patient communities as well as links to the regional Facebook groups.
Our foundation supports research and treatment discovery and is currently working with several organizations including Coriell Institute for Medical Research, Nationwide Children’s Hospital, and the Ottawa Hospital Research Institute. These teams work closely with ARA to identify areas where research should be expanded, and areas where the patient community can take action to support researchers, such as patient registries and biobanking. These researchers also work with ARA to discern/explore the various treatment options that could potentially benefit the ATRX patient community.
You can advance ATRX research by contributing to the ATRX biobank. Please visit our Biobank initiative webpage page to learn more.
If you have received an ATRX diagnosis, feel free to email Dr. Richard Gibbons, our leading expert at: richard.gibbons@ndcls.ox.ac.uk to help with any questions that you may have regarding the diagnosis.
For questions regarding our ongoing research initiatives, reach out to: info@atrxresearch.org
ATR-X syndrome is a neurodevelopmental disorder with a wide range of symptoms and severity. No two patients are affected the same way. Still, there is much we have learned from one another.
To help researchers better understand the needs of every family affected by alterations in the ATRX gene, please join our efforts to support the ongoing and upcoming initiatives by becoming a member. As a member, you will receive up to date communications on the ongoing initiatives and stay informed with the steps to take that help drive research forward.