Finding Our Tribe Has Made All The Difference
The DDX3X Foundation was created by parents of children diagnosed with DDX3X Syndrome to support children like theirs, as well as adults, who have been diagnosed with this condition and the families that love them. As part of our mission, the Foundation supports existing research, education, and treatment programs focused on DDX3X Syndrome.
Welcome to the Tribe
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.
What is DDX3X?
DDX3X Syndrome is a rare disease caused by a spontaneous mutation within a DDX3X gene at conception or can be inherited. This means nothing either parent did caused their child’s condition. 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 currently only been identified in about 600 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 presents in 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.
A simple and comprehensive summary of DDX3X Syndrome is available in this document from RareChromo.org. For more information read the DDX3X Manuscript.
Recently Diagnosed with DDX3X?
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. If you just found this site and want to get involved, here the few steps to get started.
Contact us to get in touch with other DDX3X families in your area!
Research on DDX3X gene functionality and mutations has accelerated drastically over the last years. Click below to read the research papers currently available on DDX3X Syndrome.Browse
Watch this series of talks at DDX3X Family Day events with speakers including geneticists and genetic counselors.Watch
Here are some other useful links to learn more about DDX3X Syndrome and to hear some inspiring stories.Join
Frequently Asked Questions
The information is handled according to the Terms and Conditions. In short, the information is compiled together to create research-friendly data for medical and genetic researchers.
Here are a few things you can do to get involved:
- Please fill out the DDX3X Syndrome registry so we know how to reach you.
- Join our Facebook group.
- Read Recently Diagnosed With DDX3X Syndrome? and take action.
- Contact us for more information.
Yes! Check out this awesome summary from Unique (rarechromo.org) in English, Spanish, Portugues
Annabelle was diagnosed in January of 2016 at the age of ten. She is a fraternal twin and we suspected from the day she was born a full pound and a half lighter than her sister that something was not right.Read More
Sonya has the unique ability to see beauty and amazement in everything around her. Sonya is kind, bright, beautiful, and proud. Her favorite activities are singing, coloring, horseback riding, and playing with her baby sister.Read More
Scarlett was diagnosed with DDX3X in October 2018. It was the final piece of our puzzle after six years of searching. Scarlett was small at birth and had noticeably low muscle tone. She was late on most of her milestones, but just barely, so she flew under the radar for a long time with her doctor.Read More
Hadley is a determined and joyful girl whose excitement for life rubs off on everyone around her. There is no song out there that Hadley couldn’t make up a dance to. She also loves water, maps, and interacting with just about anyone.Read More
Elizabeth is a happy and fun five-year-old girl who’s always up for an adventure. She makes friends wherever she goes with her infectious smile (and dimples). Her favorite activities include playing outside, swimming, and art.Read More
Our sweet Lucy was diagnosed in October 2016 with DDX3X. The pregnancy and delivery of Lucy was completely normal, but we knew at a very young age that something was not quite right. Although a very happy and calm in nature, Lucy was a “floppy” baby who had severe reflux.Read More
Mason was diagnosed in March 2017 with DDX3X and has been confirmed as ‘de novo’. He is now 7 years old and had a rocky few years but is the happiness little boy you could ever wish to meet. He had a rare heart condition at birth and after having open heart surgery at 10 days old he’s has proved his strength and determination.Read More
She’s very happy, sociable, quiet, observant, and easy going. She brings a lot of love and happiness to those around her. DDX3X is not easy everyday but love and hope are our guides and we are positive and confident for Rose’s future.Read More
Nico & Josie
Nicole Marie “Nico” and Josephine Jude “Josie” Mueller are our identical twin daughters that were born in 2007. Both have a mutation on their DDX3X genes, which has caused them to have cognitive and physical disabilities.Read More
Our sweet Virginia was born in March of 2005. After a completely normal pregnancy, she was breech, so the doctors flipped her and induced delivery. Virginia was very colicky from the start, and was late with all of her milestones.Read More
Peyton is our smart and joyful daughter who is full of spunk and a ton of fun. She brings happiness to everyone that is lucky enough to know her. All of these things trump her DDX3X diagnosis.Read More
My beautiful daughter, Lanie, has been through years and years of testing. Early in infancy we knew that Lanie was unique. She was not reaching milestones and was classified as having a developmental delay.Read More
After testing negative for everything explored, Mila had whole exome sequencing and the DDX3X mutation was found (though not known yet as the cuprit.) Once DDX3X began being named, we found the wonderful community of families we’ve come to know and love.Read More
At the age of 3, Annie was diagnosed as having the DDX3X gene mutation. While it has been enormously insightful to connect with other girls and their families upon receiving this diagnosis, we are well aware that as of now there is not a medical cure for what Annie has.Read More
Emelyn is a social butterfly with a giggle that brings a smile to the face of every person she meets. Emmy, as she’s affectionately known by most, loves water, music, books, and people. She’s yet to meet a stranger.Read More
Kate is globally developmentally delayed, non-verbal and has autistic characteristics. She attends school in a severe/profound program where she continues to make slow but steady progress.Read More
We finally got her diagnosis in November 2015. We have since become part of an amazing group of families and caretakers. Lena recently celebrated her 2nd birthday by learning how to crawl!Read More
Braylee was born February 2, 2014. Pregnancy was normal, but she decided to make her appearance at 36 weeks. She spent 3 weeks in the NICU due to failure to thrive, low blood sugar, breathing abnormalities and two different CHDs.Read More
News and Press
Chan Zuckerberg Initiative to Fund 30 Patient Groups, Aiming to Build a Model for Tackling Rare Disease
Originally posted on STAT by Rebecca Robbins on February 3, 2020 SAN FRANCISCO — When Facebook founder Mark Zuckerberg and his spouse Dr. Priscilla Chan in 2016 vowed to get all diseases […]Read More
Funding Available – Request For DDX3X Research Applications
Request for DDX3X Research Applications The DDX3X Foundation, a nonprofit organization dedicated to supporting research to advance theunderstanding and treatment of DDX3X mutations, announces the availability of funds to support […]Read More
Strong Community Drives Support For DDX3X Research
Originally posted on Duke University’s Regeneration Next Mariah Hoye, a Regeneration Next Fellow and Postdoctoral Research associate in the laboratory of Debra Silver, shares her experience at the 4th annual DDX3X […]Read More
Genetic testing solved Stilwell family’s medical mystery
“Everything’s fine, everything’s normal.” That’s what a Stilwell family heard time and time again about their daughter. But everything wasn’t normal and deep down, they knew it. It was just a matter of finding the right test to back up their hunch.Read More