Resources for Families

Understanding DDX3X Syndrome and how it can affect your child and your family is a daunting task, but you’re not alone. The DDX3X Foundation was created to support individuals and families experiencing the effects of the DDX3X mutation.

Welcome Letter to Parents

Hello and welcome to the DDX3X Foundation! If your child has just been diagnosed with DDX3X Syndrome, please know you have landed in a place of people who understand. You may be feeling scared or overwhelmed, or maybe you’re feeling grateful to finally have an answer to so many questions. Either way, you have found your tribe and we are here for you.

As moms of daughters with DDX3X Syndrome, we created this international foundation to provide you with the support you need to navigate this journey. This website and our Facebook group are intended to explain what we know about DDX3X mutations and to provide a sense of community, no matter where in the world you are located.

Our Recently Diagnosed page provides some key information to get you started, but there is a lot more to learn in the Facebook group’s timeline. If you are interested in something specific, do a quick search in the timeline as it may have been covered before. If you don’t find what you are looking for, then post your question to the group. Additionally, a simple and comprehensive summary of DDX3X Syndrome is available by RareChromo.org in English, French, Dutch, Portugese and Spanish.

We often hear from parents after receiving a diagnosis asking what they can do to help; a great way to start is to join our Facebook group, geneDDX3X, to connect with our larger community.

Thanks to our generous supporters, we are proud to have funded research at a number of top institutions in the United States and look forward to expanding our reach further into Europe. Learn more about the research we have funded here.

Lastly, we host regular scientific conferences as well as activities across the world for International DDX3X Day, each June 12th. It’s an opportunity to bring everyone in our community together to network and hear from researchers in the field about the latest developments on DDX3X. We would love to have you join us at our next gathering!

Welcome to the tribe – we are so glad you are here!

Warmly,

Beth and Liz

Formed by parents of children with DDX3X Syndrome, we understand the challenges associated with raising a child with DDX3X Syndrome. Many of the families affected by DDX3X Syndrome went years without knowing the cause of their child’s delays. We exist to connect and support you.

This website and our Facebook group are intended to provide support to you as you navigate this journey. Our Recently Diagnosed page provides some of the key information to get you started, but there is a lot more to learn in the Facebook group’s timeline. If you are interested in something specific, do a quick search in the timeline first. Then post your question if you don’t find what you are looking for.

DDX3X Syndrome is caused by a spontaneous mutation within the DDX3X gene at conception or can be inherited. The syndrome was discovered in the United States in 2014 and primarily affects girls due to its location on the X-chromosome, though there are some boys it has affected as well. Although it has only been identified in about 1000 individuals, doctors believe it is the cause of 1 to 3 percent of all intellectual disabilities in females.

DDX3X Syndrome is often misdiagnosed as autism spectrum disorder, cerebral palsy, Rett Syndrome, Dandy-Walker Syndrome, or a generic developmentally delayed label. It is linked to intellectual disabilities, seizures, autism, low muscle tone, abnormalities of the brain, and slower physical developments. It has a broad spectrum—some individuals develop the ability to speak in full sentences, while others are nonverbal. Some individuals run, jump, and even ski, while others are unable to walk.

The DDX3X Foundation is an international nonprofit organization founded in 2015 to aid in the process of finding a treatment or a cure for DDX3X Syndrome. As part of our mission, the foundation will support existing research, education, and treatment programs focused on DDX3X Syndrome. The foundation has three primary functions: support research, connect families, and raise awareness.

Join The Facebook Group

This Facebook page is an online forum for support, resources, child updates, and parent questions.

Say Hello! – introduce your child on the group’s timeline.
Go to the Files section of the Facebook page to access various group documents.
Invite your friends and family who want to know more about DDX3X Syndrome to join the group.

Join This Group