Donate

Author name: kit

Weekly Updates! – November 1, 2024

Blog /

Weekly Updates! - November 1, 2024

Hey everyone! I hope everyone has had a great October. Here are some TBRS Community updates and reminders for this week:

  • Updates on Variants of Uncertain Significance (VUS)
    • Recently, scientists have made headway in understanding some gene variants involved in TBRS, especially those called variants of uncertain significance (VUS). 
      • VUS means that clinicians aren’t sure if genetic changes they find could cause health issues related to TBRS or not. 
    • Thanks to new research, we’re seeing a clearer picture because of a change in what’s called a haploinsufficiency score
      • A haploinsufficiency score tells us how sensitive a gene is when one of its two copies doesn’t work properly. 
        • If a gene has a high haploinsufficiency score, it means losing function in one copy can cause health issues, while a low score might mean it doesn’t affect health as much. 
      • With recent research, the haploinsufficiency score for DNMT3A –the gene that causes TBRS – has changed (and is now higher), which means some VUS could now be reclassified as pathogenic or likely pathogenic. In other words, this helps clarify diagnosis.
    • For patients, this could have real benefits, like helping with insurance coverage or even shaping their treatment plans.
    • This research is a huge step forward in understanding TBRS and helping affected families receive clearer answers and support!
  • My TBRS lecture at the University of Pittsburgh
    • This week, I had the honor of speaking to a group of public health master’s students at the University of Pittsburgh, where I completed my Masters. 
    • My lecture covered: 
      • What it’s like to work with the TBRS Community
      • The impact of rare disease advocacy
      • Ways students can get involved in this field
    • I’m hopeful this visit will help bring more interns our way and raise awareness of TBRS, as we strive to inspire the next generation of advocates and researchers in rare disease!
  • More Materials are now available in Japanese!
    • Our New Family Welcome Packet, Overgrowth Syndromes Alliance Brochure, and Baseball card have been translated!
    • As a part of our global initiative for TBRS, we are looking for volunteers to translate TBRS materials.
      • Having these materials in other languages will increase accessibility for many patients and families with TBRS worldwide!
    • We welcome translations in any language, though our largest focuses include:
      • French
      • German
      • Chinese
    • If you are available to translate any TBRS Community resource into another language, please consider volunteering! Reach out to [email protected]!

Thanks and I hope you have a great weekend!

Kit Church, CARE Manager

Weekly Updates! – November 1, 2024 Read More »

Weekly Updates! – October 25, 2024

Blog /

Weekly Updates! - October 25, 2024

Hey everyone! I hope everyone has had a great week. Here are some TBRS Community updates and reminders for this week:

  • TBRS Community Postcard Exchange
      • The TBRS Postcard Exchange involved families from around the world sending postcards to one another. 
        • It was all about spreading joy, and each card was a special reminder that we’re all part of a supportive community. 
        • 35 families participated in this event!
      • We loved seeing everyone get involved, and we’re already looking forward to the next exchange! Thanks to Jane Hatton for organizing!
      • Click here to read the full story and see pictures!
  • TOMORROW: TBRS Friends and Family Support Group – October 26, 2024
      • This event will take place Saturday, October 26, 2024 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: Looking for volunteers to translate TBRS Community materials!
    • As a part of our global initiative for TBRS, we are looking for volunteers to translate TBRS materials, like:
    • Having these materials in other languages will increase accessibility for many patients and families with TBRS worldwide!
    • We welcome translations in any language, though our largest focuses include:
      • French
      • German
      • Chinese
    • If you are available to translate any TBRS Community resource into another language, please consider volunteering! Reach out to [email protected]!

Thanks and I hope you have a great weekend!

Kit Church, CARE Manager

Weekly Updates! – October 25, 2024 Read More »

Connecting Across the Globe: TBRS Community Postcard Exchange

News /

Our recent TBRS Community Postcard Exchange was a great success, bringing families together from all corners of the world! The idea was simple: send out postcards and receive postcards in return. Each family participated in their own way—some sent postcards to everyone on the list, while others randomly chose their recipients.

In total, 35 families participated in this exciting event! Although not all families took photos of their postcards, the joy of receiving a personal note from another TBRS family was the highlight of the exchange. We hope this fun event helped bring a little extra warmth to everyone’s day!

Thank you to all the families who participated, and thanks to Jane Hatton for organizing this event!

Connecting Across the Globe: TBRS Community Postcard Exchange Read More »

Weekly Updates! – October 11, 2024

Blog /

Weekly Updates! - October 11, 2024

Hey everyone! I hope everyone has had a great week. Here are some TBRS Community updates and reminders for this week:

  • Looking for volunteers to translate TBRS Community materials!
      • As a part of our global initiative for TBRS, we are looking for volunteers to translate TBRS materials, like:
      • Having these materials in other languages will increase accessibility for many patients and families with TBRS worldwide!
      • We welcome translations in any language, though our largest focuses include:
        • French
        • German
        • Chinese
      • If you are available to translate any TBRS Community resource into another language, please consider volunteering! Reach out to [email protected]!
  • EVENT: Halloween Social – October 19, 2024
      • We are hosting a Halloween Social on Saturday, October 19 from 12-1pm ET. 
        • This meeting will be a fun opportunity for diagnosed individuals and families to play games and have fun! 
      • We are also looking for volunteers for this social, as well as future events. Many thanks to Jane Hatton for organizing this event, but she could still use some help!
        • If you are interested in volunteering for this or any future socials, please reach out to Jane at [email protected]. 
      • All are welcome to attend. Halloween costumes are encouraged, but not required. Come ready to have some spooky fun!
  • EVENT: TBRS Friends and Family Support Group – October 26, 2024
    • This event will take place Saturday, October 26, 2024 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. 

I’ll be out of the office next week, but will be back on Monday, October 21. Thank you, and I hope you have a great couple of weeks.

Kit Church, CARE Manager

Weekly Updates! – October 11, 2024 Read More »

Weekly Updates! – October 4, 2024

Blog /

Weekly Updates! - October 4, 2024

Hello everyone! I hope everyone has had a nice couple of weeks. Here are some TBRS Community updates and reminders for this week:

  • Global Genes Rare Advocacy Summit
      • Last week, I attended the Global Genes Rare Advocacy Summit in Kansas City, MO, USA, to represent our Community. 
        • This event brings together people who work with rare diseases, including patients, families, researchers, and organizations, to help improve care and support for these conditions.
      • The summit focused on important topics like helping families get involved in research, learning how to navigate health policies, and working together with other rare disease groups. 
      • It also highlighted how families can shape research and why it’s so important for us to be part of these efforts!
        • I’m very excited to implement some of these learnings in my position and with our Community!
  • EVENT: Halloween Social – October 19, 2024
      • We are hosting a Halloween Social on Saturday, October 19 from 12-1pm ET. 
        • This meeting will be a fun opportunity for diagnosed individuals and families to play games and have fun! 
      • We are also looking for volunteers for this social, as well as future events. Many thanks to Jane Hatton for organizing this event, but she could still use some help!
        • If you are interested in volunteering for this or any future socials, please reach out to Jane at [email protected]. 
      • All are welcome to attend. Halloween costumes are encouraged, but not required. Come ready to have some spooky fun!
  • Reminder: Opportunities to donate to the Biorepository
      • Thanks to everyone who donated to the Biorepository in Kansas City last weekend! If you are interested in donating, we still have a few opportunities left for this year! 
        • The TBRS Biorepository is a collection of patient blood samples and other tissues that are readily accessible for research.
      • Below are the dates for upcoming rare disease conferences where you can donate to the Biorepository:
        • November 11 – Nashville, TN
        • December 5-6 – Los Angeles, CA 
      • If you are interested in donating to the TBRS Biorepository at any of these locations, please contact [email protected]. 
    •  

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

Kit Church, CARE Manager

Weekly Updates! – October 4, 2024 Read More »

Weekly Updates! – September 20, 2024

Blog /

Weekly Updates! - September 20, 2024

Hello everyone! I hope you’re having a great week! Here are some TBRS Community updates and reminders for this week:

    • New member of the Medical and Scientific Advisory Committee
      • Our Medical and Scientific Advisory Committee is a group of TBRS clinicians and researchers who advise us on TBRS research and care. 
      • We’d like to welcome Dr. Laura Lavery to this committee!
        • Dr. Lavery is a molecular neuroscientist. Her lab’s goal is to determine how variants in genes related to epigenetics (like TBRS and DNMT3A) cause altered neurodevelopment.
          • Having her on our advisory board will give a great perspective on our journey to treatments, particularly for neurological symptoms. 
        • Click here to view the profiles for our Medical and Scientific Advisory Committee!
  • Reminder: Opportunities to donate to the Biorepository
      • With the growing interest in our samples, we will be needing more patient donations soon!
        • The TBRS Biorepository is a collection of patient blood samples and other tissues that are readily accessible for research.
      • Below are the dates for upcoming rare disease conferences where you can donate to the Biorepository:
        • September 25-28 – Atlanta, GA
        • September 29 – Kansas City, MO 
        • November 11 – Nashville, TN
        • December 5-6 – Los Angeles, CA 
      • If you are interested in donating to the TBRS Biorepository at any of these locations, please contact [email protected]. 
  • EVENT: Have a Round for Tatton Brown! – Sept 21, 2024
      • Have a Round for Tatton Brown is a fundraiser event in support of the TBRS Community, hosted by Zoe and Michael Wisnoski. This event is back for its second year! 
      • Event details:
        • Date: Saturday, September 21, 2024
        • Location: France 44 in Minneapolis, MN, USA 
        • The event will include wine tasting, cocktail tasting, appetizers, and a silent auction!
      • Click here to sign up!
  • EVENT: TBRS Friends and Family Support Group – Sept 23, 2024
      • This event will take place Monday, September 23, 2024 at 7:00 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. 
  • EVENT: 6th Annual Stryker Strong / TBRS Golf Tournament – Sept 27, 2024
    • The Stryker Strong Golf Tournament is an annual event that aims to raise awareness of TBRS. All the proceeds from the event will benefit Stryker Strong, the TBRS Community, Anoxic Brain Injury Research, and various other local families and charities.
    • Event details:
      • Date: Friday, September 27, 2024
      • Location: Bent Brook Golf Course, Bessemer, AL, USA
      • Time: Shotgun Start 8 AM & 1 PM
    • Click here for more information!

I will be at a conference next week and will not be posting updates, but I should have plenty to talk about the following week! Thank you, and I hope you have a great weekend!

Kit Church, CARE Manager

Weekly Updates! – September 20, 2024 Read More »

Translate »
Scroll to Top