Weekly Updates! - November 8, 2024

Weekly Updates! - November 8, 2024

Hey everyone! I hope everyone has had a great week. Here are some TBRS Community updates and reminders for this week:

• Upcoming Study Using TBRS Patient Registry Data

• • • Dr. Kate Tatton-Brown is planning to publish on the TBRS Patient Registry data, particularly on symptoms and experiences of those with TBRS!
      • This will greatly help us to have solid information on lesser-known symptoms of TBRS, and improve clinical care for those with TBRS
    • If you have not participated in the Registry and would like to be involved, please consider signing up and completing surveys by December 1, 2024!
    • REMINDER: you are not required to participate in the TBRS Patient Registry and can revoke consent at anytime
      • To participate in the TBRS Patient Registry, click here!

• EVENT: TBRS Friends and Family Support Group - November 20, 2024

• • • This event will take place Wednesday, November 20, 2024 at 7:00 PM Eastern Time via Zoom
      • Here is the link to join: https://us02web.zoom.us/j/7181674734?omn=81343919781
    • 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.
• • Sign up for Citizen Health to accelerate TBRS research!
    • Exciting News: Citizen Health, formerly Ciitizen, has launched a brand new onboarding experience - and it’s better than ever!
      • We’ve teamed up with Citizen Health for the easiest way to build vital natural history studies for our community.
      • Citizen Health is a program that will collect all medical records in one convenient, online location. These records can then be shared with researchers, if you so choose!
    • Help us reach our goal! It just takes five minutes to sign up, completely digital.
      • We need 12 more participants by the end of November to access exciting new data for research!
      • Citizen Health is currently only able to collect records for participants in the United States, BUT participants can join around the globe and upload their own documents.
        • Citizen Health is currently running trials to expand to other English-speaking countries, and then plan to extend further!
    • Click here to sign up for Citizen Health!
• • The Power of Sharing Personal Stories and Wins!
    • As we prepare our annual report to showcase all that the TBRS Community has accomplished, we’re reminded of how important each family’s voice is in shaping our progress.
      • We’d love to include stories and personal wins from our patient and family community to celebrate your journeys and bring a heartfelt touch to our report.
      • Your experiences give life to our mission, inspire others, and highlight the strength of our community.
    • If you’re interested in sharing, please reach out by email to kit@tbrsyndrome.org - we’d be honored to include your story!

• Updates to DNMT3A and TBRS Patient Registry

• • • We have been working to update our Patient Registry for some time now
      • Some of these changes include using standardized surveys, adding Heyn Sproul Jackson Syndrome in our Registry (HSJ is a different syndrome also caused by the DNMT3A gene), and translating the Registry into other languages.
      • We are excited to say that we are quickly progressing, and hope to have the Registry ready to launch in early 2025!
    • Thank you to all who have volunteered to help with our migration to a new and improved Registry! With your help, we will have a more comprehensive and accessible Patient Registry platform soon!
      • To participate in the TBRS Patient Registry, click here!
    • As we continue to get closer to launch, I will make more posts about these changes!

Thanks and I hope you have a great weekend! I’ll be out at a conference all next week, but I’ll have some great updates the following week!Kit Church, CARE Manager