DDX3X Stories

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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!

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.