Donate

Blog

Weekly Updates! – September 26, 2025

Blog /

Weekly Updates! - September 26, 2025

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

  • Upcoming event: Aortopathies and Genetic Overgrowth Syndromes with Dr. Shaine Morris – October 6, 2025
      • We’re excited to announce that, for the first time, the Overgrowth Syndromes Alliance (OSA) Speaker Series will be open to families as well as researchers, clinicians, and advocacy leaders.
      • Join us on Monday, October 6 at 5 PM EDT for a special presentation by Dr. Shaine Morris on Aortopathies and Genetic Overgrowth Syndromes
        • This talk will provide valuable insights into how overgrowth conditions can impact the aorta, creating an opportunity for shared learning and collaboration across the community.
      • Families are warmly invited to attend and take part in this discussion alongside the scientific and medical community.
        • The event will be held virtually via Zoom.
      • Register today to secure your spot: https://givebutter.com/aorta
  • Upcoming event: TBRS Friends and Family Support Group – October 25, 2025
      • This event will take place Saturday, October 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.
  • REMINDER: Registration is Open for the 2026 TBRS Super Summit!
      • We’re excited to announce that registration is now open for the 2026 TBRS Super Summit! 
        • This year’s event will take place March 19–22 at the beautiful Morgan’s Wonderland Camp in San Antonio, Texas.
      • The Summit is our biggest gathering of the year, bringing together families, researchers, and clinicians to connect, learn, and work toward the future of TBRS care and research. From expert-led sessions to hands-on activities, it’s a weekend filled with knowledge, support, and lasting friendships.
        • Both in-person and virtual options are available, so everyone can take part—whether you’re joining us at the camp or tuning in from home.
      • Save the dates:
        • Family arrival: Thursday, March 19
        • Scientist/Researcher arrival: Wednesday, March 18
      • Stay tuned for more details about the schedule and speakers. We can’t wait to see you there!
      • Click here to register for the Super Summit!

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

Kit Church, CARE Manager

Weekly Updates! – September 26, 2025 Read More »

Weekly Updates! – September 19, 2025

Blog /

Weekly Updates! - September 19, 2025

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

  • Registration is Open for the 2026 TBRS Super Summit!
      • We’re excited to announce that registration is now open for the 2026 TBRS Super Summit! 
        • This year’s event will take place March 19–22 at the beautiful Morgan’s Wonderland Camp in San Antonio, Texas.
      • The Summit is our biggest gathering of the year, bringing together families, researchers, and clinicians to connect, learn, and work toward the future of TBRS care and research. From expert-led sessions to hands-on activities, it’s a weekend filled with knowledge, support, and lasting friendships.
        • Both in-person and virtual options are available, so everyone can take part—whether you’re joining us at the camp or tuning in from home.
      • Save the dates:
        • Family arrival: Thursday, March 19
        • Scientist/Researcher arrival: Wednesday, March 18
      • Stay tuned for more details about the schedule and speakers. We can’t wait to see you there!
      • Click here to register for the Super Summit!
  • REMINDER: Special Call for Medical Reports in the TBRS Patient Registry
    • The TBRS Patient Registry is helping us track how TBRS evolves over time, find patterns between individuals, and move closer toward treatment development.
    • Multiple researchers are currently reviewing registry data for further studies.
    • We are now doing a special call for medical reports—please consider uploading these to the Patient Registry!
      • We’re especially prioritizing psychiatric, cognitive, and developmental testing records.
    • Office hours for support:
    • How to upload reports:
      • Sign in to your account: tbrsregistry.iamrare.org
      • Click on the participant name
      • Click Pending Surveys
      • Scroll to the bottom and find “Genetic Tests, Imaging, and Medical Reports”
      • Retake this survey to upload reports
    • This is also a great time to update surveys if there have been any medication changes, surgeries, or new diagnoses.
    • View the TBRS Community Calendar for events and office hours.
    • Thank you to everyone who has already participated! Please reach out to me anytime: [email protected]

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

Kit Church, CARE Manager

Weekly Updates! – September 19, 2025 Read More »

Weekly Updates! – September 12, 2025

Blog /

Weekly Updates! - September 12, 2025

Hello! I hope everyone has had a great couple of weeks. I apologize for missing a few weeks of updates, I came back from my vacation with COVID, but am starting to feel better! 

I have a few updates this week:

 

    • Special Call for Medical Reports in the TBRS Patient Registry 
      • The TBRS Patient Registry is helping us track how TBRS evolves over time, find patterns between individuals, and move closer toward treatment development.
      • Multiple researchers are currently reviewing registry data for further studies.
        • We are now doing a special call for medical reports—please consider uploading these to the Patient Registry!
        • We’re especially prioritizing psychiatric, cognitive, and developmental testing records.
      • Office hours for support:
      • How to upload reports:
        • Sign in to your account: tbrsregistry.iamrare.org
        • Click on the participant name
        • Click Pending Surveys
        • Scroll to the bottom and find “Genetic Tests, Imaging, and Medical Reports”
        • Retake this survey to upload reports
      • This is also a great time to update surveys if there have been any medication changes, surgeries, or new diagnoses.
      • View the TBRS Community Calendar for events and office hours.
      • Thank you to everyone who has already participated! Please reach out to me anytime: [email protected]
  • Upcoming: TBRS Friends and Family Support Group – September 14, 2025
      • This event will take place Sunday, September 14, 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.
  • Updates from the Scientific & Medical Advisory Committee meeting this week
    • We were excited to welcome several new members to our Scientific and Medical Advisory Committees, bringing valuable expertise in genetics, neuroscience, and clinical care.
      • Welcome to Dr. Marcal Pastor Anglada (also a TBRS parent), Dr. Laura Lavery, and Dr. Katherine King!
    • The group learned about a new partnership with the RTW Foundation, which will help us strengthen our research strategy and move closer toward treatments for TBRS.
    • We announced a Pre-Summit Virtual Science Day prior to the TBRS Summit in San Antonio, TX (March 18–20, 2026).
      • This will allow scientists more time to discuss issues in person!
    • We are also preparing the release of the updated TBRS Research Roadmap, which outlines our community’s research goals and next steps.
      • Once it is completed, the full scientific version will be posted on the website, as well as a family friendly summary!
    • We’re grateful to the committee for their dedication and to all families for your continued partnership in advancing research!

 

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

Kit Church, CARE Manager

Weekly Updates! – September 12, 2025 Read More »

Weekly Updates! – August 22, 2025

Blog /

Weekly Updates! - August 22, 2025

Hello! I hope everyone has had a great week. Just a quick reminder this week:

    • 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! I’ll be out at the end of next week, but will have more updates on Friday, September 5.

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

Kit Church, CARE Manager

Weekly Updates! – August 22, 2025 Read More »

Weekly Updates! – August 15, 2025

Blog /

Weekly Updates! - August 15, 2025

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
      • 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

Weekly Updates! – August 15, 2025 Read More »

Weekly Updates! – August 1, 2025

Blog /

Weekly Updates! - August 1, 2025

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

  • 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 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! – August 1, 2025 Read More »

Translate »
Scroll to Top