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Updated TBRS and DNMT3A Patient Registry has Launched!

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The Tatton Brown Rahman Syndrome (TBRS) and DNMT3A Patient Registry has undergone a major transformation, bringing new features that will enhance its impact and accessibility. This registry is more than just a data collection system—it is an interactive, participant-driven resource designed to empower individuals affected by TBRS, Heyn Sproul Jackson Syndrome (HESJAS), and DNMT3A-related disorders. Some of the key updates include the use of standardized surveys to improve data quality and the addition of Heyn Sproul Jackson Syndrome to expand the registry’s scope. We also have new translations in progress to ensure accessibility for participants worldwide. With these improvements, we are creating a more inclusive and comprehensive resource that will better serve the community and researchers alike.

By participating in the Patient Registry, individuals and families contribute directly to the advancement of research, helping scientists and clinicians uncover critical insights into DNMT3A-related conditions. The data collected can support the development of new diagnostic tools, guide treatment options, and improve clinical care for those affected. Every participant strengthens our understanding of these conditions, helping researchers identify patterns, potential therapeutic targets, and long-term health outcomes. Simply put, the registry gives a voice to those with TBRS, HESJAS, and DNMT3A variants, ensuring that patient experiences drive scientific discovery.

We are excited to announce that the updated DNMT3A and TBRS Patient Registry has arrived! This milestone would not be possible without the dedication of our volunteers and the TBRS Community members who have helped guide the migration to this improved platform. Your participation and support are key to making this registry as impactful as possible. Together, we can drive progress, improve care, and bring hope to those affected by TBRS, HESJAS, and DNMT3A-related disorders.

Get Involved!

New Participants: Click here to participate in the patient registry.

Former Participants: Look out for an email from [email protected] to migrate your old account to the new platform!

Updated TBRS and DNMT3A Patient Registry has Launched! Read More »

Weekly Updates! – April 4, 2025

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Weekly Updates! - April 4, 2025

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

  • Launching 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 [email protected] with instructions to continue with the new Registry. 
        • IF YOU HAVEN’T PARTICIPATED BUT WANT TO NOW:
      • Please email me with any questions! [email protected]
  • 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 [email protected].
  • 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
    • 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. 

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

Kit Church, CARE Manager

Weekly Updates! – April 4, 2025 Read More »

Weekly Updates! – March 28, 2025

Blog /

Weekly Updates! - March 28, 2025

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

  • Join the TBRS Exercise Challenge 2025 before it’s too late!!
      • We have officially launched the 2025 TBRS Exercise Challenge! Register before Tuesday, April 1 to participate!
        • 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.
        • In March, individuals can sign up for the Challenge and begin collecting pledges. The Challenge takes place throughout the month of April!
      • To register, visit the TBRS Exercise Challenge website and click “join team”
        • Here you can sign up and create your team for the challenge!
      • Anyone can participate in the challenge – and 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 setting up your team, please contact me at [email protected].
  • Upcoming: TBRS Friends and Family Support Group – March 30, 2025
      • This event will take place Sunday, March 30, 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. 
  • UPDATE: Upcoming TBRS Conference in Spain!
    • The TBRS Spanish association is hosting a Conference in Spain!
    • I will provide an update on the conference in a few weeks!

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

Kit Church, CARE Manager

Weekly Updates! – March 28, 2025 Read More »

Understanding TBRS & Heart Health: New Cardiac Care Resource Available

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Download the fact sheet!

The TBRS Community is excited to release a new Cardiac Care & Surveillance Fact Sheet, designed to help individuals with Tatton Brown Rahman Syndrome (TBRS), their families, and healthcare providers understand the critical cardiac concerns associated with the condition. While TBRS is still a relatively new diagnosis, emerging research and our own TBRS Patient Registry data indicate that more than half of individuals with TBRS have a diagnosed heart condition or structural abnormality. Most notably, recent studies have highlighted aortic root dilation as a key concern, with some cases progressing rapidly and even requiring emergency surgery. This fact sheet compiles the latest research findings and expert recommendations to support better cardiac monitoring and care for those affected by TBRS.

The fact sheet emphasizes the importance of routine cardiovascular surveillance, including baseline and follow-up echocardiograms to track aortic dilation and other potential heart conditions. Given the evolving understanding of TBRS-related cardiac risks, we strongly encourage individuals with TBRS to consult with a cardiologist for regular monitoring. Our resource also provides insights from the latest studies and guidance on integrating cardiac surveillance into long-term care plans.

We are committed to keeping our community informed as research progresses. This fact sheet is just one way we aim to empower TBRS families and clinicians with the knowledge they need to proactively manage cardiac risks.

Download the resource today and learn more about recommended screenings!

Understanding TBRS & Heart Health: New Cardiac Care Resource Available Read More »

Save the Date: The 2026 TBRS Summit at Morgan’s Wonderland Camp!

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We are thrilled to announce that the 2026 TBRS Summit will take place the weekend of March 21st, 2026, at the one-of-a-kind Morgan’s Wonderland Camp in San Antonio, Texas! This incredible, fully accessible camp is designed to ensure that everyone can experience adventure, connection, and joy.

What Makes the TBRS Summit So Special?

The TBRS Summit is where our community comes together to learn, grow, and build lasting friendships. It’s a unique opportunity for families, researchers, and clinicians to connect in a supportive, welcoming environment. Our goal for 2026 is to make the Summit even more meaningful by increasing access to clinical specialists, providing more time for shared experiences, and making sure there’s plenty of fun along the way!

A Camp Designed for Everyone

Morgan’s Wonderland Camp is a dream location for our Summit. Built with accessibility at its core, the camp offers a wide range of adaptive and inclusive activities that ensure everyone can participate:

  • Zip-lining and high ropes with full adaptive support
  • Swimming and splash pads in an accessible aquatic center
  • Horseback riding with specialized saddles and assistance
  • Fishing, archery, and nature trails designed for all mobility levels
  • Campfires, arts and crafts, and interactive group activities

This setting gives our families the chance to experience new adventures without limits, in a safe and fully supportive environment.

A Focus on Clinical Care and Community

One of our biggest goals for the 2026 Summit is to increase clinical engagement so families can get expert insights into TBRS care. We’re working to bring in more clinical specialists, therapists, and researchers who can provide hands-on learning sessions, Q&A panels, and one-on-one consultations. We also want to leave plenty of time for families to share their experiences, exchange knowledge, and support one another.

What to Expect

The weekend will include:
 ✅ Research & Clinical Updates – Learn about the latest advancements in TBRS care and treatment
 ✅ Breakout Sessions & Panels – Connect with experts on key topics like cardiac care, behavior strategies, and genetic research
 ✅ Parent & Caregiver Discussions – Open conversations about advocacy, navigating healthcare, and building support networks
 ✅ Family Fun & Connection – Time to relax, play, and create unforgettable memories with other TBRS families

Stay Tuned for More Details!

We can’t wait to welcome you to Morgan’s Wonderland Camp for an unforgettable TBRS Summit experience! More details, including registration, accommodations, and agenda updates, will be shared soon—so stay tuned!

📅 Save the Date: March 21st, 2026
 📍 Morgan’s Wonderland Camp | San Antonio, TX

This is going to be our best Summit yet, and we hope to see you there! 💙

Save the Date: The 2026 TBRS Summit at Morgan’s Wonderland Camp! Read More »

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Join the TBRS Exercise Challenge: Move for a Cause!

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2022-Challenge-Shirt-Design

The TBRS Exercise Challenge is more than just a fundraiser—it’s a movement that brings our community together to make a real difference in the lives of people with Tatton Brown Rahman Syndrome (TBRS). Launched in 2020 by Ashley Hatton, a person with TBRS, this annual event encourages participants to set personal fitness goals while raising money to fund essential programs for the TBRS Community.

Why It Matters

Every dollar raised through the TBRS Exercise Challenge helps fund education, support, and research. This year, we’re focused on two critical initiatives:

  • Creating a clinical series to educate doctors and families on best practices for TBRS care.
  • Formalizing surveillance and treatment guidelines to improve medical care and outcomes for individuals with TBRS.

With over 200 participants in our patient registry, we’re learning more than ever before about the medical needs of individuals with TBRS—and your support helps turn that knowledge into action.

How to Get Involved
  • Set Your Challenge: Choose an activity—walk, run, swim, cycle, dance, or any movement that gets you moving!
  • Fundraise: Create a personal fundraising page and ask friends, family, and coworkers to support your efforts.
  • Share Your Journey: Post your progress on social media with #TBRSExerciseChallenge to inspire others.
  • Donate: Not ready to participate? You can still make a difference by donating to the cause.
Make an Impact Today!

Every step, pedal, and jump brings us closer to a brighter future for those living with TBRS. Join the movement, challenge yourself, and be part of something bigger!

Sign up or donate today!

Join the TBRS Exercise Challenge: Move for a Cause! Read More »

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