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 to discuss a rare disease that wasn’t even known to exist until three years ago. Caused by mutations in a gene called DDX3X, the disease produces moderate to profound developmental disabilities. It’s associated with physical…

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 family portrait wasn’t anything like I imagined — there’s maybe a wheelchair or leg braces or facial dysmorphisms or who knows what. The thought brought me to tears on more than a few occasions. Now, two years…

Lucy Douglas photo wearing a dark blue shirt and a helmet

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 “floppy” baby who had severe reflux. At around 6 months, I…

Mason Platt on his wheelchair

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 after having open heart surgery at 10…

Rose Michel looking very cute

Rose Michel

Rose was born the 3rd of may 2014 in Paris. The beginning of pregnancy was ok, at the 6th month echographs saw a “ventriculomegalie”. I did a foetal RMI, everything was “perfect in her brain” as the doctors said. The “karyotype” was fine too. Rose arrived 3 weeks early, she started to grow up like…

A mother and daughter lovingly hugging each other in a green field

Recently Diagnosed with DDX3X?

Connect. Gather Resources. Further Research. If your child has just been diagnosed with DDX3X and you want to get involved in the DDX3X community, here are steps to connect, gather resources, and further DDX3X research.     Join the DDX3X Facebook group (https://www.facebook.com/groups/geneddx3x/) This FB page is an online forum for support, resources, child updates,…