We’ve previously announced Our Fragile X World through our social media accounts, our Fragile Xtras e-newsletter and the NFXF Quarterly. Our Fragile X World is a community of families and researchers dedicated to using survey research to provide practical information about the world of Fragile X syndrome as they have experienced it. Families who enroll in Our Fragile X World agree that they may be contacted periodically with an invitation to participate in confidential surveys about how FXS affects their children and families.

Already more than 700 families have enrolled – thank you! What a great commitment you have made to share your perspectives and experiences! To encourage enrollment and thank the National Fragile X Foundation for spreading the word, RTI International (the non-profit research institute hosting Our Fragile X World), donated $500 to the NFXF for every 50 families who signed up. This means that $7,000 has been added to the NFXF and this money will go into a special scholarship fund to support families needing financial assistance to attend the NFXF conference next July in Miami. We thank Our Fragile X World for making this happen!

If you have been wondering, “OK, this all sounds great, but what can a survey registry like this really do? How does it work?” Well, a large group of families who are willing to consider completing a survey is a unique resource. Nothing like it exists anywhere, and by having so many families, researchers can ask questions about children of different ages and abilities, as well as families from many different backgrounds and regions of the country.

One major survey to be conducted will be started in January of 2012. Funded by the U.S. Centers for Disease Control, questions for this survey are currently being developed. RTI will be accepting nominations for items to include and will be conducting pilot testing of those items later this fall.

In the meantime, RTI was approached by Novartis Pharmaceuticals Corporation about a possible survey. As most of you know, several pharmaceutical companies are now testing medications designed especially for individuals with Fragile X syndrome. How will the effectiveness of these medications be judged? Novartis asked RTI to design a survey to gather baseline data on the behavior problems caused by Fragile X syndrome and to look at how raising a child with Fragile X syndrome can affect parents or other caregivers. Understanding caregiver burden is vital to communicating the potential value of new therapeutic interventions.

RTI worked with Novartis researchers to design a survey answering these questions. The items were field-tested with a group of parents who agreed to review them and give advice on how to make the survey as clear and simple as possible. Then parents who enrolled in Our Fragile X World were invited to complete the survey, for which they received $20 in appreciation of their time and the information provided. Nearly 80% of eligible families completed it! The information is currently being analyzed and will be submitted for publication in a scientific journal.

RTI anticipates support from other companies and federal agencies to continue their survey research, and these projects will be described in upcoming issues of the Foundation Quarterly and the NFXF e-Newsletters. For each survey they will follow a similar model of

  1. Partnerships to identify important questions;
  2. Parent input to make sure the survey works as intended; and
  3. Open reporting of findings so that all may benefit from the knowledge gained.

Although the donation intensive is no longer active, we still encourage you to enroll in Our Fragile X World by going to their website: ourfragilexworld.org, or by calling toll-free: 866-214-2044. You can email the project or Don Bailey with any questions or suggestions. Again, thanks to everyone who has made this effort a tremendous success!