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229
KNOWN CASES
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159
REGISTRANTS

Our Stories

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 three weeks early on May 3, 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... 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
Lanie
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
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
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
We welcomed Emelyn to our family in March of 2013. She’s about the most laid-back child you’ll ever meet with a giggle that will bring a smile to anyone’s face. Whether it’s splashing in the bathtub, paddling around the pool, or... read more
Kate
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
Lena
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
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

News and Press

Finding Our Tribe Has Made All the Difference as We Navigate Our Daughter’s Disability
Originally posted on The Mighty I sit here, on a plane, traveling back from San Diego where our family has spent the last four...
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A Small Request to the People Who Pray for My Child With Special Needs
Originally posted on The Mighty My daughter Emelyn’s first year was probably the toughest emotionally. Suddenly my picturesque...
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Newly Discovered Rare Disease Unites Parents, Researchers
Originally published in The San Diego Union-Tribune by Bradley J. Fikes More than 100 people gathered in San Diego on Sunday...
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