Hello. I hope everyone has had a great week. Here are a few updates from this week:

• Upcoming: TBRS Friends and Family Support Group – August 20, 2025

• • • This event will take place Wednesday, August 20, 2025 at 4:00 PM Eastern Time via Zoom
      • Here is the link to join: 
      • https://us02web.zoom.us/j/7181674734?pwd=yDe4BXP5l2EYGnhpQmwrxzF0jcDDgC.1&omn=86941128287
    • 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: New Office Hours with Kit Church!

• • • Have questions about research, need help with the TBRS Patient Registry, or want to learn more about community programs? Join me, Kit Church, during weekly office hours!
    • Schedule:
      • Mondays & Wednesdays: 9:30 – 10:10 AM ET
      • Thursdays & Fridays: 4:00 – 4:40 PM ET
    • Click here to access the TBRS Community calendar, where links can be found!
    • If these times don’t work, email me at [email protected] to schedule another time. 

• REMINDER: TBRS Registry → call for uploads 

• • TBRS research and care have come so far — thanks to YOU and the data shared in the TBRS and DNMT3A Patient Registry.
  • Now we need your help again with a time-sensitive, specific call to upload reports and medical records to support TBRS and DNMT3A Research Projects.
  • If you only have time for a few uploads, please prioritize:
    • Neuropsychological evaluation and/or Psychological evaluation reports
    • Educational reports (OT, PT, speech, cognitive testing)
      • (It’s okay if they are not in English. Upload reports from throughout the years. The more the better!)
  • Next level of priority:
    • Imaging reports (brain, heart, abdominal — MRI, MRA, ultrasound, echocardiogram, CT, etc)
    • EEG, Echo, and EKG reports
    • Specialist reports
    • Growth charts
  • Upload or update your records securely here: https://tbrsregistry.iamrare.org/
    • These can be uploaded in the survey titled Genetic Tests, Imaging, and Medical Testing
    • We’re happy to meet with you on Zoom if you need help uploading. Just let us know.
    • Thank you for continuing to move TBRS research forward.

Thanks! Please reach out to me with any questions at [email protected]. Happy weekend!

Kit Church, CARE Manager