Donate

Blog

Weekly Updates! – July 25, 2025

Blog /

Weekly Updates! - July 25, 2025

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

  • TOMORROW: TBRS Friends and Family Support Group – July 25, 2025
      • This event will take place Saturday, June 25, 2025 at 3:00 PM Eastern Time via Zoom
      • 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.
  • 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 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

Weekly Updates! – July 25, 2025 Read More »

Weekly Updates! – July 18, 2025

Blog /

Weekly Updates! - July 18, 2025

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

  • 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.
    • Because of the information families have contributed, we’ve been able to:
      • Provide data for analysis by leading researchers and clinicians
      • Create the TBRS Fact Sheet
      • Develop the TBRS Cardiac Care and Surveillance Sheet
      • Develop the TBRS Blood and Cancer Sheet
      • Support scientific papers and clinical publications
      • Host talks in our Clinical Education and Outreach Series to share crucial updates with families and clinicians
    • 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 and EKG reports
      • Specialist reports
      • Growth charts
    • Upload or update your records securely here: https://tbrsregistry.iamrare.org/
      • 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.
  • Highlighting an Important Resource: Hidden Disabilities Sunflower Program
    • We want to share an incredible resource with our TBRS Community – the Hidden Disabilities Sunflower Program! 
    • This program was created to help individuals with non-visible conditions feel supported and recognized in public spaces. By wearing a Sunflower lanyard, badge, or accessory, you can discreetly signal to staff, service providers, and others that you or your loved one may need a little extra time, understanding, or assistance.
      • The Hidden Disabilities Sunflower initiative is widely recognized in airports, retail stores, hospitals, and many other locations across the U.S. and globally. It’s a powerful tool for creating awareness and promoting inclusion.
    • We’re proud to share that Tatton Brown Rahman Syndrome (TBRS) is listed among the conditions recognized in the program. This means families in our community can use the Sunflower as a way to advocate for understanding and accessibility when out and about.
      • To learn more or order Sunflower products for your family, visit: https://hdsunflower.com/us/.

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

Kit Church, CARE Manager

Weekly Updates! – July 18, 2025 Read More »

Weekly Updates! – June 27, 2025

Blog /

Weekly Updates! - June 27, 2025

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

  • Recap: “Understanding Mosaicism in TBRS” with Sarah Waldvogel, MD/PhD student at Baylor College of Medicine
      • On Monday, June 23, Dr. Waldvogel presented on her work on mosaicism in TBS
        • She has been studying mosaicism in TBRS and will break down what it is, what she’s discovered, and why it matters—for families, clinicians, and the future of TBRS care.
      • If you missed the live event, I’ll post the recording on the Facebook group this afternoon. It will also be posted to the TBRS Community YouTube channel next week! 
  • Recap: Gene Therapy Considerations in TBRS presentation
      • On Friday, May 23, Dr. Harrison Gabel presented on the latest advancements in TBRS gene therapy research
        • A recording of Dr. Gabel’s presentation can now be found on YouTube.
      • Additionally, our own Dr. Vicken Totten has developed a lay summary of the presentation, should families prefer to read about the presentation.
  • We’ve partnered with Unite Us, offering support services for our US-based families!
    • Need help finding support services in your area? We’ve partnered with Unite Us, a social service platform that helps connect people in the United States with local resources.
      • These resources include: benefits and insurance support, mental health care, housing and utility assistance, food and transportation services, education and employment support, and more!
    • U.S. families can now access this support through our new Unite Us link—just follow the instructions and select “Request Local Support Resources (US only).”
    • Outside the U.S.? Reach out to your Regional Coordinator or contact Kit Church at [email protected]—we’re here to help you find what you need, wherever you are.

 

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

Kit Church, CARE Manager

Weekly Updates! – June 27, 2025 Read More »

Weekly Updates! – June 20, 2025

Blog /

Weekly Updates! - June 20, 2025

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

  • TOMORROW: TBRS Friends and Family Support Group – June 21, 2025
      • This event will take place Saturday, June 21, 2025 at 2:00 PM Eastern Time via Zoom
      • 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.
  • Upcoming: “Understanding Mosaicism in TBRS” with Sarah Waldvogel, MD/PhD student at Baylor College of Medicine
      • This event will take place Monday, June 23, 2025 at 4:00 pm EST via Zoom
      • Mosaicism happens when only some of a person’s cells carry the TBRS genetic change, and it can affect inheritance, how symptoms appear, and how it is diagnosed.
      • Sarah has been studying mosaicism in TBRS and will break down what it is, what she’s discovered, and why it matters—for families, clinicians, and the future of TBRS care.
  • New Videos on Our YouTube Channel!
  •  
  • We’ve partnered with Unite Us, offering support services for our US-based families!
    • Need help finding support services in your area? We’ve partnered with Unite Us, a social service platform that helps connect people in the United States with local resources.
    • These resources include: benefits and insurance support, mental health care, housing and utility assistance, food and transportation services, education and employment support, and more!
    • U.S. families can now access this support through our new Unite Us link—just follow the instructions and select “Request Local Support Resources (US only).”
    •  Outside the U.S.? Reach out to your Regional Coordinator or contact Kit Church at [email protected]—we’re here to help you find what you need, wherever you are.

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

Kit Church, CARE Manager

Weekly Updates! – June 20, 2025 Read More »

Weekly Updates! – June 13, 2025

Blog /

Weekly Updates! - June 13, 2025

Hello. I hope everyone has had a great week. I have just a few updates this week:

  • Upcoming: TBRS Friends and Family Support Group – June 21, 2025
    • This event will take place Saturday, June 21, 2025 at 2:00 PM Eastern Time via Zoom
    • 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.
  • Recap: Special Talk on Hematology & Oncology in TBRS – with Dr. Rachel Rau 
    • On Monday, we had a great presentation from Dr. Rachel Rau, where she discussed hematology and oncology considerations for individuals with Tatton Brown Rahman Syndrome (TBRS). 
    • This presentation was a valuable opportunity for families and patients to learn from an expert in the field and better understand the latest insights related to blood and cancer-related health concerns in TBRS.

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

Kit Church, CARE Manager

Weekly Updates! – June 13, 2025 Read More »

Weekly Updates! – June 6, 2025

Blog /

Weekly Updates! - June 6, 2025

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

  •  
  • NEXT MONDAY: Join Us for a Special Talk on Hematology & Oncology in TBRS – with Dr. Rachel Rau 
    • We’re excited to welcome Dr. Rachel Rau for a special presentation on June 9 at 5 PM EST, where she’ll discuss hematology and oncology considerations for individuals with Tatton Brown Rahman Syndrome (TBRS). 
    • This session is a valuable opportunity for families and patients to learn from an expert in the field and better understand the latest insights related to blood and cancer-related health concerns in TBRS.
      • Don’t miss this chance to ask questions and stay informed—register here and join us live!  
      • If you are unable to attend, please sign up – a recording will be sent to families who are unable to attend!
  • RECAP: CZI Science in Society Meeting
      • Last week, Jill and I attended the Science in Society meeting hosted by the Chan Zuckerberg Initiative (CZI)!
        • This conference brought together researchers, funders, and advocates from across rare disease and research communities to talk about how we can make science more impactful and inclusive.
      • A major focus was on cross-disease collaborations—just like the Overgrowth Syndromes Alliance and COMBINEDBrain. These partnerships allow rare disease groups to work together to speed up discoveries that help all of us.
      • There was also a big emphasis on improving medical awareness, expanding mental health care resources, and building stronger tools to support patient-partnered research.
        • We’re proud that the TBRS Community is already doing many of these things—and we’re always learning new ways to grow our impact!
  • Collaborative Meetings with the RTW Foundation
    • The RTW Foundation has been helping advise us behind the scenes for some time—offering expert scientific insight to make sure our research strategy is as strong and impactful as possible.
      • In the coming weeks, we’ll begin a round of meetings with the RTW Foundation and members of our TBRS research network!
      • These new meetings will bring our researchers and the Foundation together to discuss progress, identify gaps, and prioritize what comes next.
    • We’re excited to continue building a thoughtful, patient-driven research agenda—one that helps accelerate discoveries and improves care for everyone in the TBRS Community.
      • We’ll be sure to share updates and insights from these meetings along the way!

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

Kit Church, CARE Manager

Weekly Updates! – June 6, 2025 Read More »

Translate »
Scroll to Top