Find researchers and clinicians who are dedicated to the cause
Founders and co-chairs Liz Berger and Beth Buccini connected when their daughters received a newly discovered diagnosis of DDX3X syndrome, with only a handful of affected patients identified. Determined not to have another family go years without answers, they quickly formed the DDX3X Foundation and built relationships with a network of researchers and medical professionals. A researcher who attended one of the organization’s scientific roundtable meetings wrote, “I left that night feeling connected to these families and their children, and I knew I would never see my research the same way.”
Diagnosis of DDX3X syndrome typically occurs when an infant or child fails to meet milestones such as sitting up, babbling, walking, and talking. Some patients experience more significant medical issues such as heart or digestive issues or seizures. Although there is no cure, various forms of therapies, including occupational, physical, speech, and feeding, can help those that are impacted. Medications are often prescribed for hyperactivity, anxiety, seizures, and sleep disturbances.
Liz and Beth recognize the value in collaboration and make it their mission to keep researchers and clinicians focused on the collective goal of finding a cure for DDX3X and a better and brighter future for every child.
Research Progress & Capacity Building Updates
Thanks to the RAO grant, the DDX3X Foundation has made great strides over the grant period. The Foundation hired its first Executive Director, Chelsey McCarthy, in January 2021, and instituted an annual International DDX3X Day to take place annually on June 12 to raise money and awareness for DDX3X research. Additionally, the Foundation is planning an in-person Scientific Conference in November 2021 with an expected turnout of more than three times that of any past conference. The Foundation also has plans to host its first European Scientific Conference in 2022.
“I left that night feeling connected to these families and their children, and I knew I would never see my research the same way.”