Weekly Updates! - April 3, 2026

Hey all! I have a few quick reminders and updates:

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• Help a TBRS mom studying disability - Quick Survey for Families
  
  • A member of our community, Patrizia Omiccioli (mother of seven, including three children with TBRS), is completing her degree at the University of Macerata.
    
    • Her thesis focuses on disability and marginalization, specifically the lived experiences of families affected by TBRS.
    • This research is deeply personal and aims to reflect the real challenges and experiences within our community.
  • TBRS families are invited to complete a short survey to contribute their perspectives.
    
    • Responses will help ensure our community’s voices are represented in this important research.
    • Patrizia plans to share her findings with the TBRS community once her thesis is complete.
  • Survey link: https://form.jotform.com/260674999173070 
  • Timing: If possible, please complete in the next few days!

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• Need for EKGs and Echos for a heart study
  
  • One study is requesting Electrocardiograms (ECG or EKG) & Echocardiograms (Echo) to address heart concerns in TBRS.
  • Reports can be uploaded to the TBRS Patient Registry or emailed to kit@tbrsyndrome.org to upload

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• Lets learn more about bone health in TBRS!
  
  • Dr. Vicken Totten, a parent of a person with TBRS, is conducting a research study about bone health in people with Tatton Brown Rahman syndrome (TBRS).
    
    • If your child or loved one has a TBRS diagnosis, you can help by completing a short survey about bone-related concerns such as fractures, pain, or other bone issues.
    • Participate by using this link

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Thanks! Please reach out to me with any questions at kit@tbrsyndrome.org. 

Kit Church, CARE Manager