NFXF Belonging Project: Site Updates

In early 2024, the NFXF — in partnership with the Fly With Me fund — awarded three clinics with funding for their projects dedicated to reaching underrepresented and underserved communities. Additionally, the NFXF developed a survey project on belongingness.

Read up on the latest updates from the Belonging Project awardees and learn more about the crucial work they’re doing:

Leveraging Community Engagement to Advance Access to Diagnosis and Treatment in FXS

Clinic: Cincinnati Children’s Hospital Medical Center
Principal Investigator: Debra Reisinger, PhD

Project Update: Over the past few months, CCHMC researchers have conducted over a dozen local trainings for primary care providers, fostering connections with local providers and empowering the immediate community to ask questions and give them access to valuable resources.  These trainings have helped some in the community by removing the “typical” barriers of being told to wait to see a geneticist or another specialist.

CCHMC reports that their partnership with physician outreach at CCHMC has been instrumental, helping researchers to connect with numerous community providers and establish lasting connections.  Community providers have expressed gratitude for the trainings, showing great interest and engagement. Additionally, researchers are exploring ways to expand efforts into more rural communities, ensuring that FXS becomes better known and understood in the immediate communities.

As part of these initiatives, CCHMC’s future endeavors include creating and disseminating a one-page document for families and clinicians about testing.  The document would explain how anyone can order a test without needing a specialist and would list the diagnostic codes for testing. Additionally, CCHMC is working with the idea of turning trainings virtual, which would allow for virtual CME credits and reach providers far beyond the immediate Cincinnati area.

University of Utah and Primary Children’s Hospital Fragile X Clinic Belonging Grant

Clinic: University of Utah and Primary Children’s Hospital
Principal Investigator: Victoria Wilkins, MD, MPH

Project Update: The Belonging Grant is helping researchers at the University of Utah continue their crucial outreach to underserved communities, specifically Native American and Pacific Islander communities.  Just months into the project, researchers have already identified four individuals living with Fragile X and are helping the families get help and support.

“Since we started this project funded by the NFXF Belonging grant this summer [2024], we have identified two new individuals with a diagnosis of FXS in the Pacific Islander and Native American communities.  Also, we have identified that one of their siblings is a carrier and the other’s sibling is likely full mutation but still untested. One of these children is a teenager who had never been tested for genetic causes of autism prior to Belonging grant outreach. Even if these four children are the only new patients we find through the Belonging grant, it has made a huge, meaningful, life-changing difference for two families.”

—Dr. Victoria Wilkins, Medical Director at the University of Utah Fragile X Clinic

“Belonging” — Empowering Families Affected by Fragile X Syndrome

Clinic: Children’s National Hospital
Principal Investigator: Naterra Walker, NP

Project Update: Researchers at Children’s National are using the Belonging grant to actively work to increase engagement and raise awareness of FXS both within and outside the hospital.  To date, much of the work has been done in-house, promoting the FXS clinic at the institution and holding monthly meetings with families living with FXS and social workers.

To achieve this, researchers have recorded educational talks and shared them widely, with the goal of engaging families who are not yet known or being seen. Researchers were able to leverage a one-week “takeover” of the Children’s National social media account to increase FXS visibility. In October 2024, researchers brought FXS awareness to the community with FXS hats and t-shirts worn during the “Children’s Race for Every Child” event for the community. This is something that will be done yearly.

While strides have been made in improving visibility for families already diagnosed with FXS within the hospital, efforts to expand reach into the broader community are still needed. Future plans are inspired by working with a primary care provider network to take this outreach outside of the hospital, and engage directly with community providers and local clinicians.

Belonging in Fragile X:  A Survey Addressing Diversity, Equity, and Inclusion in the Fragile X Community

Location: National Fragile X Foundation
Principal Investigator: Hilary Rosselot

Project Update: We — the NFXF — have just launched our survey on belongingness and what it means to members of the Fragile X community to belong. After survey collection, the NFXF and researchers in Miami will host focus groups for English and Spanish speaking individuals who care to have more in-depth conversations on what it feels to belong to the Fragile X community.