A mother and daughter lovingly hugging each other in a green field

Recently Diagnosed with DDX3X?

Steps to connect, gather resources, and further DDX3X research

If your child has just been diagnosed with DDX3X or you’ve just found this site and want to get involved in this community, here are a few steps to get started.

Join the DDX3X Facebook group (https://www.facebook.com/groups/geneddx3x/)

  • This FB page is an online forum for support, resources, child updates, and parent questions.
  • Go to Files section of the FB page to access various group documents
  • Say Hello! – introduce your child on the group’s timeline
  • Invite your friends and family who want to know more about DDX3X to join the group

Join the DDX3X Foundation Research Facebook group (https://www.facebook.com/ddx3xfoundation/)

  • This FB page focuses on research, patient registry, and other specific DDX3X Foundation information

Follow us on Instagram (https://www.instagram.com/ddx3xgirls/)

  • Email us at [email protected] with your child’s first name, date of birth, and picture if you want to be included

Become familiar with what we currently know about DDX3X and view resource information

Join the Patient Registry and bookmark ddx3x.org

  • The Patient Registry is located on the DDX3X website (www.ddx3x.org); once on the homepage click on Join the Registry
  • Joining the Patient Registry is very important for current and future research!
  • It is optional to add a personal story about your child with DDX3X to the website. Submit your story here.

Participate in the next Family Day – to be announced in early 2020!

Join Dr. Sherr’s Brain Development Research Study

  • Dr. Elliott Sherr, neurologist and professor in the School of Medicine at the University of California, San Francisco, is leading the way with DDX3X research; Dr. Sherr is including our girls in the Brain Development Research Study
  • Complete the intake form online, note your child has a DDX3X mutation on the form
  • Once submitted you will be in contact with Dr. Sherr’s research assistant, Lindsey Suit ([email protected]) who will direct you to complete the ACC History Form, located under ‘Files’ tab on the DDX3X Facebook page (­https://www.facebook.com/groups/geneddx3x/), or Lindsey can email the form
  • Send in your child’s MRI (any and all MRIs) to Dr. Sherr’s office and genetic testing results (you can scan and email a digital copy of the genetic testing results)
    • Post MRIs to:
      Sherr Lab UCSF
      ATTN: Lindsey Suit
      675 Nelson Rising Lane, Box 3206
      San Francisco, CA 94158
  • Watch for updates from Dr. Sherr’s research on our Facebook group’s timeline

Arrange for a Skin Biopsy

  • One parent and the child with DDX3X need to have a skin biopsy performed; biopsies are being used for current research; samples are stored at the Coriell Institute, which has a large, public biobank
  • Contact Coriell’s genetic counselor, Tara Schmidlen at [email protected] or by phone at 856­-757-­4822 and PLEASE mention that you received her information from Karlla Welch Brigatti and were advised to contact her regarding the inclusion of your DDX3X sample to their biobank; Tara will assist you in setting up your skin biopsy

Share your story with Face2Gene (Developed by FDNA)

  • Many genetic syndromes are associated with the appearance or gradual development of distinctive facial characteristics in affected patients; FDNA has developed a technology that analyzes facial photos to identify specific facial morphology features or patterns associated with rare diseases
  • You are invited to upload facial photos of patients with a confirmed diagnosis of genetic syndromes to this secure and private portal


  • The DDX3X Foundation is working hard to fund Dr. Sherr’s current research proposal intending to pursue the possibility of drug treatment for girls with the DDX3X mutation
  • Tax-deductible donations can be made via our web site (https://ddx3x.org/the-ddx3x-foundation/)
  • Some DDX3X fundraisers have included: backyard BBQ for friends and family, silent auction and raffles, Rare Disease Day party with suggested donations, selling DDX3X magnets and wrist bands, and more
  • Information on DDX3X is available on the website: www.ddx3x.org