Connect. Gather Resources. Further Research.
If your child has just been diagnosed with DDX3X and you want to get involved in the DDX3X community, here are steps to connect, gather resources, and further DDX3X research.
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 off the FB page to access various group documents
- Please add your child’s name, date of birth, age, parents’ names, and location to the List of DDX3X Children located in the Files section
- Say Hello! – introduce your child on 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 firstname.lastname@example.org 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
- DDX3X Summary by RareChromo.org
- Published DDX3X mutation study
- Video presentations from past Family Day events:
Join the Patient Registry & 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! (http://ddx3x.org/family-day/)
Join Dr. Sherr’s Brain Development Research Study
- Dr. 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, currently Lindsey Suit Lindsey.Suit@ucsf.edu who will direct you to complete the ACC History Form
- The ACC History form, located under ‘Files’ tab on the DDX3X Facebook page (https://www.facebook.com/groups/geneddx3x/) Lindsey can also email this to you
- Send in your child’s MRI (any and all MRIs) to Dr. Sherr’s office and genetic testing results (you can probably 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
- Post MRIs to:
- 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@example.com 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 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
- The DDX3X Foundation and FDNA’s Genomics Collaborative launched a new project to help doctors learn more about DDX3X and we need your help! You are invited to upload facial photos of patients with confirmed DDX3X diagnosis to this secure and private portal
- Then, doctors will be able to upload their undiagnosed patient’s photo into this system and face recognition software will be able suggest a possible diagnosis for doctors to test for. This technology could dramatically increase the number of children and adults who join us in our DDX3X family. Please take a few minutes to enter your child’s information and photo(s)
- 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 Delaware Community Foundation (https://delcf.org/donations/ddx3x/)
- Some DDX3X fundraisers have included: backyard BBQ for friends and family, silent auction and raffles, Rare Disease Day party w/ suggested donations, selling DDX3X magnets and wrist bands
- Information on DDX3X is available on the website: www.ddx3x.org