Starting a Rare Disease Foundation
Up to 1 in 16 Americans has a rare disease. June 12 is International DDX3X Awareness Day, a rare genetic disease. The founder of Mainstream Genomics had the opportunity to interview Beth Buccini, who is Co-Founder of DDX3X Foundation. Beth’s daughter, Virginia, was the first person in the United States diagnosed with DDX3X Syndrome, which Beth named herself after the gene DDX3X.
Beth shares her family’s journey in search for a diagnosis, which culminated in specialized genetic testing in 2014 called whole exome sequencing when Virginia was 9 years old. Beth co-founded the DDX3X Foundation, and she describes the many support services they provide for families affected by DDX3X Syndrome.