Support Adelaide's Rare Disorder Journey

This is Adelaide! On December 15, 2021, after nearly a year of testing, she was diagnosed with a rare genetic disorder called DDX3X. This disorder has a wide spectrum of symptoms, including developmental delays, intellectual disabilities, seizures, and hypotonia, to name a few. In most cases, including Adelaide's, the disorder is de novo, which means that there was a spontaneous mutation at conception.

Currently, there are around 1,300 individuals worldwide that have been diagnosed. Since this syndrome is so rare, there is very limited information out there about what to expect. Adelaide has been invited to participate in a research study in Chicago in June. We will also be able to meet with a doctor who has been studying this disorder, which is huge for us because currently, none of our doctors have any knowledge on this topic. Unfortunately, since this disorder is so rare, there is not enough funding to help with the trip. We have had some friends and family express interest in helping us get there. Any money donated will go to flights, hotel accommodations, and any travel necessities. At the end of the trip, whatever is left over will be donated to the DDX3X foundation.