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Weekly Updates! – July 25, 2025

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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 »

Sponsorship Opportunities Now Open for the TBRS Community Summit 2026!

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We’re thrilled to announce that the TBRS Community Summit 2026 will take place March 18–22, 2026 at the beautiful, inclusive Morgan’s Wonderland Camp in San Antonio, Texas! This life-changing event brings together families, researchers, and clinicians from around the world to advance the science, share knowledge, and deepen support for everyone affected by Tatton Brown Rahman Syndrome (TBRS). As we prepare for this unforgettable gathering, we’re inviting sponsors to help make it all possible.

Why Your Support Matters
There are no approved treatments or cures for TBRS—but together, we can change that. By sponsoring the Summit, you’ll help fund vital programming, ease the financial burden on families, and fuel research toward life-improving therapies.

Sponsorship Levels for Every Mission and Budget
From Gold ($15,000) and Silver ($10,000) event sponsors to targeted opportunities like:

  • Sponsor a Family – Help a family attend ($2,000)

  • Sponsor a Scientist – Support a young researcher’s travel ($1,500)

  • Sponsor a Meal – Provide a delicious and inclusive meal ($2,000 per meal)

  • Research Hero ($20,000) – Fund a TBRS research project in your name

Even small contributions help us make a big impact! Additional tiers starting at just $250 offer recognition and visibility across Summit materials and online platforms.

Special Guests Include
Gordon Hartman (Founder of Morgan’s Wonderland), Dr. Kate Tatton-Brown (TBRS namesake), and Dr. Harrison Gabel (TBRS Collaborative Research Network) will be joining us—along with dozens of passionate families and scientists ready to connect.

How to Get Involved
Want to learn more or connect a potential sponsor?
Visit: https://givebutter.com/2026Sponsor
Or reach out directly to our team: [email protected]

Together, we can make the 2026 Summit more impactful than ever—bringing hope, healing, and progress to families around the globe.

We are stronger together. 

Click here

Sponsorship Opportunities Now Open for the TBRS Community Summit 2026! Read More »

Weekly Updates! – June 27, 2025

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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 »

Updated TBRS Fact Sheet Released with New Cardiology, Blood, and Cancer Sections

News /
Download the new fact sheet!

We’re excited to share the release of the updated Tatton Brown Rahman Syndrome (TBRS) Fact Sheet, now featuring expanded sections on cardiology and hematology/oncology. These additions reflect the most current knowledge about heart conditions, blood disorders, and cancer risks associated with TBRS.

This progress is only possible because of the families who contributed to the TBRS and DNMT3A Patient Registry, along with the dedication of clinicians and researchers working to better understand this newly identified rare disease. Their combined efforts have helped us accelerate the timeline of discovery—turning years of clinical observations into actionable insights.

The updated fact sheet includes:

  • A summary of common and emerging symptoms in TBRS

  • Expanded detail on aortic root dilation, including new data from our community

  • Information on reported blood cancers and solid tumors, with practical information for conversations with your care team

  • Information for clinical specialists to consider as part of care coordination

Please remember: This fact sheet is not medical advice and not a substitute for individualized care. It is a resource to help guide discussions between families and their healthcare providers.

Thank you to every family who shares their story, and to the medical professionals who are helping us build a better future for people with TBRS.

Updated TBRS Fact Sheet Released with New Cardiology, Blood, and Cancer Sections 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 »

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