During the summer of 2018, we finally received a diagnosis for the difficulties that Brooklyn had been experiencing since birth.  Through genetic testing, we discovered that she presented with a genetic mutation described as DDX3X.  At the time, Brooklyn was only the 2nd child in Maine to have been diagnosed and one of the first 100 in the world.  The genetic disorder had just been discovered.  We felt such a huge sense of relief when we received this diagnosis because it gave us clarity and answers.  

Since that time, we have been learning more about the genetic disorder.  Here are some key features taken from the DDX3X website: 
-Primarily affects girls due to its location on the X-chromosome, though there are affected boys
-Was only recently discovered in 2014
-Has only been identified in about 300 individuals, however, doctors believe it is the cause of 1 to 3 percent of all intellectual disabilities in females
-Is often misdiagnosed as autism spectrum disorder, cerebral palsy, Rett Syndrome, Dandy Walker Syndrome, or a generic developmentally delayed label
-Is linked to intellectual disabilities, seizures, autism, low muscle tone, abnormalities of the brain, and slower physical developments
-Has a broad spectrum—some children learn to speak in full sentences while others are nonverbal; some individuals run, jump, and even ski while others are unable to walk

For the first year, the DDX3X foundation has identified June 12 as International DDX3X Day.  We want this day to be a celebration of Brooklyn!  She is amazing!  So happy, spunky, and big-hearted!  As part of this celebration, we are inviting our friends and family to join us in a 5k Fun Walk/Run!  We, as a family, will be participating in our own walk but would love for anyone to join us! More details to come.  In conjunction, the 5k event will also be used as a fundraiser for the DDX3X foundation.  If you do not wish to participate in the walk/run, please feel free to use this page for any donations and they will go directly to the foundation.  We thank you so much for your continued support and love for our beautiful Brooklyn!

REGISTER FOR THE FUN RUN/WALK! 

https://ddx3xfoundation.z2systems.com/np/clients/ddx3xfoundation/event.jsp?event=8&.   T-shirt included

https://ddx3xfoundation.z2systems.com/np/clients/ddx3xfoundation/event.jsp?event=13&. No T-Shirt (Just wear your own purple shirt!)

The inaugural DDX3X Day will be held on Saturday, June 12, 2021. To commemorate the day, The DDX3X Foundation will host an international family day for DDX3X Syndrome patients and their families to participate in person or virtually in a community-building event. To increase awareness, The DDX3X Foundation is asking those that know someone impacted by the disorder to wear purple on June 12th, participate in a virtual 5k, and post on their social media accounts using the hashtag #DDX3XDay. In addition, in an effort to generate funding for research, the Foundation is hoping each impacted family will raise $612 in celebration of the 6.12 date and help reach the fundraising goal of $150,000 to develop Centers of Excellence for DDX3X Syndrome. Centers of Excellence are facilities with clinicians and staff who specifically understand the diagnostic criteria of the disorder and are dedicated to identifying and meeting the various needs of those diagnosed.