Weekly Updates! - April 18, 2025

Weekly Updates! - April 18, 2025

Hello. I hope everyone has had a great week. I have a few updates to share:

• NEW Upcoming: Special Presentation - TBRS Disease Impact

• • • This event will take place Wednesday, May 7, 2025 at 4:30 PM Eastern Time via Zoom
      • Here is the link to register: https://givebutter.com/TBRSdcm
    • We’re excited to share that Mylie, a graduate student in Genetic Counseling who recently completed a Disease Concept Model for Tatton Brown Rahman Syndrome (TBRS), will be presenting her findings to the TBRS Community!
    • This presentation will highlight the real-life impacts of TBRS on individuals and families, as captured through interviews and research. It’s a chance to hear how your stories and experiences are helping shape the understanding of TBRS in the research and medical world.
      • We hope you'll join us for this important conversation! If you are unable to attend, please sign up anyway! We will share a recording with those who are unable to attend live.

• Upcoming: TBRS Friends and Family Support Group - April 26, 2025

• • • This event will take place Sunday, April 26, 2025 at 2:00 PM Eastern Time via Zoom
      • Here is the link to join: https://us02web.zoom.us/j/7181674734?omn=84244123124
    • The TBRS Community offers a monthly Friends and Family Support Group via Zoom. Families from all around the world can participate. We create a safe place to share thoughts, feelings, concerns, and emotions without judgment. The meeting seems to take a different shape every time we gather—sometimes we focus on sharing resources or experiences, but we always seek to make everyone feel comfortable and supported.
    • Any parents or caregivers of someone diagnosed with TBRS are welcome.

• REMINDER: We’ve launched the TBRS and DNMT3A Registry (2.0)!

• • • We have been working to update our Patient Registry for some time now, and are excited to announce that the TBRS and DNMT3A Patient Registry has officially launched!
      • Our goal with this new registry is to collect data more efficiently and make it easier for families to complete!
      • Some of the other changes included in our new registry are using standardized surveys, adding Heyn Sproul Jackson Syndrome to our Registry (HESJAS is a different syndrome also caused by the DNMT3A gene), and translating the Registry into other languages.
    • Steps to participate in the updated Registry are below:
      • IF YOU PARTICIPATED IN THE REGISTRY IN THE PAST:
        • You should have received an email from iamrare-help@rarediseases.org with instructions to continue with the new Registry.
      • IF YOU HAVEN’T PARTICIPATED BUT WANT TO NOW:
        • Click the following link to create your account: https://tbrsregistry.iamrare.org/
    • Please email me with any questions! kit@tbrsyndrome.org

• THANK YOU to our TBRS Challenge participants!

• • We have officially launched the 2025 TBRS Exercise Challenge!
    • Through this challenge, individuals with TBRS commit to a daily exercise of their choice in exchange for pledges and donations to the TBRS Community. This presents an exciting fundraising opportunity while encouraging healthy practices for individuals with TBRS.
  • Thank you to all of the superstars participating in the Challenge this year! It's amazing to see what you can do!
  • To support, visit the TBRS Exercise Challenge website.
    • All of the funds raised go to improving the Patient Registry and making data more easily accessible for research!
    • If you have any questions or need help, please contact me at kit@tbrsyndrome.org.

Thanks! Please reach out to me with any questions at kit@tbrsyndrome.org.Kit Church, CARE Manager