Our daughter Clara is a bright, funny, happy, toddler from Los Angeles, CA, who has two extremely rare conditions: DDX3X Syndrome and White Matter Disease of the brain (leukodystrophy / leukoencephalopathy.)
Clara’s white matter changes were discovered by MRI just two weeks before her 2nd birthday, in July 2017 via a routine MRI done to prepare for the cochlear implant process, as she was born hearing impaired.
After initial tests for the most common forms of white matter disease were negative, Clara’s entire human genome was mapped through Whole Genome Sequencing (WGS) conducted through the LeukoSeq Research Trial at Children’s Hospital of Philadelphia Leukodystrophy Center.
The WGS did not reveal the type of Clara’s white matter disease, which is currently unknown. There are more than 30 known types of leukodystrophy and many more are currently unknown, to be classified as genetic research advances.
The WGS did, however, reveal Clara is one of about 500 people worldwide known to have mutation in the DDX3X gene – and Clara is the only one in the world currently known to have her exact mutation (heterozygous de novo c.1088G>A (p.Arg363Lys) within the DDX3X gene. It’s still a lot to wrap our heads around – Clara is truly one-of-a-kind.
Progressive white matter changes are the cruelest of diseases because children – even those who have developed typically – are eventually robbed of their ability to walk, speak, eat, and breathe on their own. Sadly, many do not survive childhood. On the other hand, while certainly a challenge for those who have it, DDX3X Syndrome is known to be stable, so our hope was that Clara’s white matter changes were caused by her DDX3X mutation and would, therefore, be stable.
Unfortunately, MRIs done in 2017 and 2018 show that Clara’s white matter changes are progressing.
OUR HOPE – PLEASE HOPE WITH US
With her future uncertain, and far more time than anyone would like spent in and around hospitals, we are focused on making every day of Clara’s life as happy as it can be. We are doing our best to stay strong and keep giving Clara the care she needs to grow, learn and thrive until such time as she cannot. If a miracle occurs, that day will never come.
We are hopeful medical breakthroughs in gene therapy will be quickly forthcoming, in time to identify and alter this terrible disease’s progression and allow our daughter to continue to meet milestones and live out a natural life.
This is naturally very difficult for our family, but we decided early on that sharing Clara’s journey 
as it unfolds – wherever it leads – may help others who are facing similar challenges, and bring us closer to others whose experiences may be similar.
If that speaks to you, please feel free to contact us.
THANK YOU.
#TeamClara
The Miracle for Clara web site was generously constructed by Isaac Cuchilla.