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.
- This FB page is an online forum for support, resources, child updates, and parent questions.
- The top of the FB page has a ‘files’ tab that houses information for the group.
- Please add your child’s name, date of birth, age, parents’ names, and location to the DDX3X roster, located in the files section of the DDX3X Facebook page.
- Under ‘Photos’ and then ‘Albums’ you can add your child to the ‘Meet Our Sweet Girls’ Album.
- This FB page focuses on research, patient registry and other specific DDX3X Foundation information.
- Email us at email@example.com 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:
- Videos from Family Day 2016 (Chicago, IL):
- Videos from Family Day 2015 (Strasburg, PA):
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.
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. (https://redcap.ucsf.edu/surveys/?s=e5zvYW)
- 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:
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 firstname.lastname@example.org 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.
- 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. We need $225,000 ASAP.
- Refer to the DDX3X Research FB Page https://www.facebook.com/ddx3xfoundation/ for more uptodate information about research.
- The DDX3X Foundation is able to issue tax receipts to donors.
- 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