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Our Stories

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. After nearly four... 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... 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. Hadley has... 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. She has limited... read more
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. Annabelle achieved all of her milestones... read more
Lucy Douglas
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... read more
Mason Platt
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... read more
Rose Michel
Rose was born the 3rd of May 2014 in Paris, France. We did not notice any initial developmental challenges until around nine months when she wasn’t sitting independently and seemed sensitive and stressed. At that point, we turned to our... 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. In utero, the... read more
Virginia Frances
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. After 10 years of... read more
Peyton Grace
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. Peyton has difficulty with every aspect of her... 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. We knew something was not quite right.... read more
Mila came into our world the day after her due date on September 9, 2012 following a “typical” pregnancy/no complications. Immediately, however, we noticed she was hard to soothe and to nurse. Within a few months, our pediatrician... read more
Annie has a twin brother named Buck. They were born pre-maturely, at 31 weeks gestation. Both came into the world very small, but as they grew, a disparity became apparent between the two in terms of their rate of development. At the age of 3, Annie... read more
Emelyn Grace
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. Despite the lack of verbal... read more
Kate was born on October 9, 2008 after an uneventful pregnancy. Early on she had a terrible time sleeping, abnormal cry and was unable to keep down feedings. We were referred to a specialist when Kate was six months old and were told that she... read more
Our lovely Lena was born in May 2014. She was happy and healthy, other than being diagnosed with microcephaly. At her 4 month checkup we were referred to a developmental pediatrician. That began a year of test after test, endless doctor visits, and... 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. She had open heart... read more

Recently Diagnosed With DDX3X?

If your child has just been diagnosed with DDX3X or you’ve just found this site and want to get involved in this community, here are a few steps to get started.

  • Join the DDX3X Facebook group
  • Join the DDX3X Foundation Research Facebook group
  • Follow us on Instagram
  • Become familiar with what we currently know about DDX3X
  • Join the Patient Registry & Bookmark DDX3X.ORG
  • Participate in the next Family Day!
  • Join Dr. Sherr’s Brain Development Research Study
  • Arrange for a Skin Biopsy
  • Share your story with Face2Gene (Developed by FDNA)
  • Fundraise

News and Press

Funding Available – Request for DDX3X Research Applications
  Request for DDX3X Research Applications The DDX3X Foundation, a nonprofit organization dedicated to supporting research to...
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Chan Zuckerberg Initiative to fund 30 patient groups, aiming to build a model for tackling rare diseases
Originally posted on STAT by Rebecca Robbins on February 3, 2020 SAN FRANCISCO — When Facebook founder Mark Zuckerberg and his...
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Genetic testing solved Stilwell family’s medical mystery
STILWELL, KS (KCTV) -- “Everything’s fine, everything’s normal.” That’s what a Stilwell family heard time and time again...
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