I'm John, and between June 11th to 13th, I will attempt to skate 378km on behalf of my daughter Maddie, to raise money for the DDX3X Foundation on their inaugeral International DDX3X Day, June 12th.  On each of the three days I will take to my inline skates in Kelowna, British Columbia and attempt to skate 126km as a nod to the 12.6 date. 

My daughter Maddie was born with a genetic disorder which features a broad range of symptoms including intellectual disabilities developmental delays, poor fine motor skills, limited speech, low muscle tone, as well as an infectious smile and joyful demeanor.  Thanks to the tremendous efforts of the doctors at BC Children's Hospital and a genetic research program, in September of 2018 Maddie was officially diagnosed with a newly defined rare disease known as DDX3X.  DDX3X Syndrome is a rare disease typically caused by a spontaneous mutation within the DDX3X gene at conception or can be inherited. The syndrome was discovered in the United States in 2014 and primarily affects girls due to its location on the X-chromosome, though there are some boys it has affected as well. Although it has only been identified in about 600 individuals, doctors believe it is the cause of one to three percent of all intellectual disabilities in females. There are cases in 46 countries around the world.

Upon hearing Maddie's diagnosis, we were welcomed into an international family with similar stories, resourses, information, and hope through their establishment of the DDX3X Foundation.  The DDX3X Foundation is an international nonprofit organization founded in 2015 by two mothers each with a daughter afflicted with the disorder. The Foundation’s mission is to connect families, resources, and the medical community to advance research for a treatment or cure for DDX3X Syndrome. The Foundation’s ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals. The Foundation has three primary functions: support research, connect families, and raise awareness. 

The DDX3X Foundation has announced the declaration of International DDX3X Day to be recognized every June 12th.  The mission of the day is to increase awareness of the rare disorder so that both parents and healthcare providers can identify symptoms and request testing to diagnose patients. The only way the DDX3X disorder can be diagnosed is by whole-exome sequencing (WES) which is typically done by a geneticist.

Please visit www.ddx3x.org to learn more about DDX3X Syndrome and the impact it has on patients and their families.

Please note, that I believe donations are in USD.

 

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.