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Weekly Updates! – March 15, 2024

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Weekly Updates! - March 15, 2024

Hello everyone! Hope you’re having a great week. Here are some TBRS Community updates from this week:

  • TBRS Baseball Card
    • The TBRS Community Baseball Card is designed to be a quick resource for information on TBRS and specific information about the diagnosed individual. 
      • This card is great for sharing with clinicians, healthcare providers, caregivers, teachers, and other members of your care community.
      • This resources is currently translated for English and German, with Spanish coming soon!
    • For more information or to create a baseball card, click here.
  • New Family Welcome Packet
    • The TBRS Community has designed a New Family Welcome Packet that contains all of the important information on participation in research, community programs, and current knowledge on TBRS.
      • This packet is designed to support the newly diagnosed, but contains important information for all families in the TBRS Community.
      • Click here to view the packet.
  • TBRS Translation Accelerator Grant
    • Reminder: The TBRS Community is offering two $50,000 grants to support and accelerate treatment development for Tatton Brown Rahman Syndrome. For more information, click here.
    • We have received 5 applications for this grant!
    • 5 reviewers have evaluated these grant applications, and we will be announcing the recipients of these grants soon.
      • Stay tuned!
  • Rare Disease Summit 
    • I will be attending the Rare Disease Summit in Philadelphia this coming week.
    • Topics at this Summit include: Advocacy, partnering with industry (pharma and biotech), diagnosis, research tools, and disease treatment.
  • Reminder – Spain and France conference
    • 2 TBRS Community conferences are being held this March:
      • Burgos, Spain – Friday, March 22 – Sunday, March 24, 2024
      • Nancy, France – Friday March 29, 2024        

Thank you, and I hope you have a great weekend!

Kit Church, Research Coordinator

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Weekly Updates! – March 8, 2024

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Hello everyone! Since we’re coming up on the 10th Anniversary of the discovery of TBRS, I have some related announcements this week:

  • 10th Anniversary: Special Edition Newsletter
    • We will have a newsletter coming out next week in honor of the 10th Anniversary of the discovery of TBRS.
    • This newsletter will feature some new resources, an announcement about our new Development Director, and information on the TBRS Challenge. 
    • Be on the lookout for this newsletter over the weekend!
  • TBRS Community Conferences – in Spain and France!
    • 2 TBRS Community conferences are being held this March:
      • Burgos, Spain – Friday, March 22 – Sunday, March 24, 2024
      • Nancy, France – Friday March 29, 2024        
  • Biorepository donations
    • The TBRS Community Biorepository is a collection of patient samples aimed at advancing research quickly while reducing patient burden of sample donation. 
      • Many of you have already donated to this Biorepository, either at the TBRS Summit 2023 or at home!
    • If you were expecting a donation kit for the Biorepository and have not yet received information on this, please reach out to me at [email protected]

Thank you, and I hope you have a great TBRS Awareness Month!

Kit Church, Research Coordinator

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Weekly Updates! – March 1, 2024

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Weekly Updates! - March 1, 2024

Hello everyone! Hope you had a great Rare Disease Day and are excited for TBRS Awareness Month. Here are some TBRS Community updates from this week:

  • Rare Disease Day – mini newsletter
  • Random Kindness for TBRS
    • In honor of Rare Disease Day and TBRS Awareness Month, we developed a “Random Acts of Kindness” flyer for TBRS
    • The campaign invites individuals to carry out random acts of kindness (like buying a stranger a coffee or volunteering in the community) 
    • After these gestures, participants are encouraged to distribute a TBRS Random Acts of Kindness Flyer
      • This flyer educates others on TBRS and encourages them to pay the random act of kindness forward
    • Read the full story and download the flyer here.
  • Surveillance Recommendations
    • We recently posted some Surveillance Recommendations on the TBRS Community website!
      • These recommendations were developed from the information in this paper by Dr. Kate Tatton-Brown.
      • NOTE: these are not guidelines, but are recommendations based on information gathered from TBRS patients.
    • Bring these recommendations to your next clinicians visit!
  • TBRS Exercise Challenge 2024
    • We have officially launched the 2024 TBRS Exercise Challenge! 
    • 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].
  • TBRS Community Biorepository – surveys needed!
    • COMBINEDBrain, the host of our Biorepository, is conducting a study to try and identify biomarkers, or a measurement of how well a treatment works for TBRS in the future.
      • This is necessary to find for any treatment study prior to clinical trials.
    • If you donated to the Biorepository at the TBRS Summit, there might be some surveys still needed from you for this project.
      • You can complete surveys for the Biomarker project by logging into Matrix.
      • I have emailed all participants who are missing surveys, so please check your email!
    • Please email me if you have any questions!

Thank you, and I hope everyone has a great weekend!

Kit Church, Research Coordinator

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Weekly Updates! – February 23, 2024

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Weekly Updates! - February 23, 2024

Hello everyone! Hope you’re having a great week. Here are some TBRS Community updates from this week:

  • Checking in with our Research Network
    • This week, we’ve been reaching out to the members of our Collaborative Research Network to get research updates and remind them of our resources, including: 
      • New Patient Priority results
        • Click here to participate in the Patient Priority Survey
      • Biorepository
        • Click here to participate in the Biorepository
      • Patient Registry
        • Click here to participate in the Patient Registry
  • Development Director – interviews
    • We’ve had several interviews for the Development Director position at the TBRS Community!
    • We’re hoping to finalize our decision in the next couple of weeks, and have our new Development Director introduced soon!
  • Overgrowth Syndromes Alliance 
    • OSA is a joint project with our colleagues at the Malan Syndrome Foundation
    • We are creating educational materials for clinicians to raise awareness about overgrowth syndromes, including a pamphlet
  • Presentation at Washington University in St. Louis
    • Washington University in St. Louis is hosting a Rare Disease Day event February 29
    • Our Vice President, Kerry Grens, will be presenting on the Overgrowth Syndromes Alliance and our Patient Priority Survey results
      • We’re excited to get this information out to as many researchers as possible to facilitate patient-centered research for TBRS and other overgrowth syndromes.
      • This will also bring awareness to the Overgrowth Syndromes Alliance and the TBRS Community.
  • 5th Annual TBRS Exercise Challenge 
    • The TBRS Exercise Challenge was designed by Ashley Hatton, a very active member of the TBRS Community!
    • 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!
      • We will have a registration link available soon!
      • If you have any questions, email [email protected]
  • 10th Anniversary of the Discovery of TBRS – Time to Celebrate!
    • In addition to celebrating Rare Disease Day on February 29, we have another exciting day coming up in the next few weeks: TBRS Awareness Day and the 10th anniversary of the discovery of TBRS!
      • We are planning some events to celebrate the anniversary, and would love feedback from the community!
        • If you have any ideas to celebrate the 10th anniversary of the discovery of TBRS, reach out to me at [email protected]

Thank you, and I hope everyone has a great weekend!

Kit Church, Research Coordinator

Weekly Updates! – February 23, 2024 Read More »

Weekly Updates! – February 16, 2024

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Weekly Updates! - February 16, 2024

Hello all! Here are my updates from this week:

  • New Family Welcome Packet
    • We are currently working on a welcome packet that will be given to new families that join our community, as well as current families. 
    • This packet is almost finished, so look out for more information as it will be available soon!
  • Changes to the TBRS Patient Registry
    • As we are making changes to the registry, there are a few surveys we are hoping to add:
      • The PEHLS seizure survey
        • I have reached out to a few families who have experienced seizures for input on this survey
      • Sleep survey
        • A lot of individuals with TBRS seem to have issues with sleep beyond sleep apnea, so including this survey will help us to gather more information on sleep issues with TBRS. 
    • We have also developed a “Frequently Asked Questions” page for the Patient Registry, which should help answer some questions about the registry for new participants, and those who have not logged on in a while. 
    • If you have not participated in the TBRS Patient Registry, click here to join!
  • 10th anniversary of TBRS
    • TBRS was first discovered in Spring of 2014. As such, we are approaching the 10th anniversary of the discovery of TBRS.
    • We will be planning some special events to take place this Spring to celebrate the anniversary.
      • Details will be available soon!

Thank you, and I hope everyone has a great weekend!

Kit Church, Research Coordinator

Weekly Updates! – February 16, 2024 Read More »

Weekly Updates! – February 9, 2024

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Weekly Updates! - February 9, 2024

Hello all! Here are my updates from this week:

  • TBRS Collaborator needs Registry data! 
    • We have a researcher working on a project using both Biorepository samples and Registry data. 
    • This project will help in diagnosis and clinical understanding of TBRS.
      • If you donated to the Biorepository and have not completed the Patient Registry, please consider registering in the next few weeks!
      • I will be reaching out directly to families who donated to the Biorepository and did not complete the Patient Registry in the coming weeks as a reminder of this project.
  • Regional Coordinator Meeting
    • We had our first Regional Coordinator meeting on Monday, February 5, 2024.
    • We discussed some important topics, including: 
      • How to use resources in an area to support the Community
      • How to better involve non-English speaking members of the Community
      • How Regional Coordination might best benefit every Region where we have TBRS families!
    • If you are interested in becoming a Regional Coordinator, please reach out to me at [email protected]
  • EVENT: Special Needs Future Planning Coaching Session 
    • A series of meetings to help coach our community on special needs planning. Come hear about resources available and get support from other caregivers who are going through the same process. All are welcome.
    • Monday, February 12, 4:00-5:00 PM EST. Register here.
  • EVENT: New Family Meet-Up
    • Newly diagnosed families are encouraged to join our Executive Director and TBRS Parent, Jill Kiernan. Learn the newest TBRS-related information, hear about upcoming events, and find out more about programs the TBRS Community has to offer.
    • Friday, March 8, 4:00-5:00 PM EST. Register here

Thank you, and I hope everyone has a great weekend!

Kit Church, Research Coordinator

Weekly Updates! – February 9, 2024 Read More »

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