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Weekly Updates! – December 6, 2024

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Weekly Updates! - December 6, 2024

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

    • Help us launch the TBRS Drug Discovery and Repurposing Project
      • Our goal is to raise $30,000 by December 31 to launch this critical research and bring real solutions to families now
        • Your support will fund a drug discovery and repurposing project to identify existing FDA-approved or new drugs that could help TBRS patients. 
        • Our dedicated research team is ready to evaluate these drugs and make them accessible to families in need.
      • Join Us! Every dollar helps us move closer to life-changing solutions. 
  •  
    • REMINDER: The Power of Sharing Personal Stories and Wins! 
      • As we prepare our annual report to showcase all that the TBRS Community has accomplished, we’re reminded of how important each family’s voice is in shaping our progress. 
        • We’d love to include stories and personal wins from our patient and family community to celebrate your journeys and bring a heartfelt touch to our report. 
        • Your experiences give life to our mission, inspire others, and highlight the strength of our community.
      • If you’re interested in sharing, please reach out by email to [email protected] – we’d be honored to include your story!
  •  
    •  With giving season in full swing, here is a reminder of ways you can show your support!
      • Leave a lasting legacy with the Dorothy G. Hatton Legacy Society
        • Join the Dorothy G. Hatton Legacy Society, named in honor of a cherished TBRS grandma who was the first person to ever include the TBRS Community in her planned giving.
        • Legacy gifts play a crucial role in ensuring the long-term sustainability of the TBRS Community. These gifts allow us to: 
          • Provide essential resources, 
          • Support families affected by TBRS, 
          • Advance critical research toward treatment development,
          • Expand our programs, 
          • Increase our outreach, and 
          • Offer hope to those living with TBRS. 
        • There are financial and tax advantages for donors as well, including:
          • Estate Tax Reduction
          • Income Tax Benefits
          • Flexibility and Control
          • Enduring Legacy
        • Click here to learn how you can contribute!
      • Show your support as a TBRS GEM
        • Become a TBRS GEM (Giver Every Month)! 
        • By becoming a recurring donor, you have the chance to make a significant impact in the lives of those who face TBRS by funding crucial research, providing vital resources, and ultimately, improving their quality 
        • Over the course of a year:
          • $10 per month allows us to host our TBRS Social and Support Groups
          • $25 per month funds the collection of one patient sample to our biorepository
          • $50 per month can send a TBRS Cares Package to 12 families in crisis per year
          • $100 per month provides the resources to maintain our virtual programming
          • $250 per month pays for our TBRS Patient Registry platform for a year
          • $500 per month can create an iPSC line, a valuable research tool based on patient cells
        • As a TBRS GEM, you will be featured on our website and social media, have access to TBRS GEM exclusive member update meetings, and receive a 10% discount to any of our paid events.
        • Become a TBRS GEM here!
    •  

Thanks and I hope you have a great weekend!

Kit Church, CARE Manager

Weekly Updates! – December 6, 2024 Read More »

Weekly Updates! – November 27, 2024

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Weekly Updates! - November 27, 2024

Hey everyone! I hope everyone has had a great week so far! Jill and I will be out of the office for Thanksgiving this Thursday and Friday, but I wanted to post some quick reminders for this week:

    • Reminder: Sign up for Citizen Health to accelerate TBRS research!
      • Exciting News: Citizen Health, formerly Ciitizen, has launched a brand new onboarding experience – and it’s better than ever! 
        • We’ve teamed up with Citizen Health for the easiest way to build vital natural history studies for our community. 
        • Citizen Health is a program that will collect all medical records in one convenient, online location. These records can then be shared with researchers, if you so choose!
      • Help us reach our goal! It just takes five minutes to sign up, completely digital. 
        • We need 7 more participants by November 30 to access exciting new data for research!
        • Citizen Health is currently only able to collect records for participants in the United States, BUT participants can join around the globe and upload their own documents.
          • Citizen Health is currently running trials to expand to other English-speaking countries, and then plan to extend further!
      • Click here to sign up for Citizen Health!
  • Reminder: Upcoming Study Using TBRS Patient Registry Data
    • Dr. Kate Tatton-Brown is planning to publish on the TBRS Patient Registry data, particularly on symptoms and experiences of those with TBRS!
      • This will greatly help us to have solid information on lesser-known symptoms of TBRS, and improve clinical care for those with TBRS
    • If you have not participated in the Registry and would like to be involved, please consider signing up and completing surveys by December 1, 2024!
    • REMINDER: you are not required to participate in the TBRS Patient Registry and can revoke consent at anytime
      • To participate in the TBRS Patient Registry, click here!

Thanks and I hope you have a great weekend!

Kit Church, CARE Manager

Weekly Updates! – November 27, 2024 Read More »

Weekly Updates! – November 22, 2024

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Weekly Updates! - November 22, 2024

Hey everyone! I hope everyone has had a great couple of weeks. Unfortunately, I’ve had a cold from traveling, but I still have some TBRS Community updates and reminders for this week:

  • I attended the Ultragenyx Rare bootcamp last week
      • This event is designed to inform patient organizations about all the steps related to treatment and therapeutic development
        • I was also able to talk with leaders in the field about our options for treatments and what steps are best to take to reach them!
      • Though we don’t have a treatment yet, it was inspiring to talk with industry and other groups who have developed therapies, and to learn more about the best path forward.
  • Sign up for Citizen Health to accelerate TBRS research! 
    • Exciting News: Citizen Health, formerly Ciitizen, has launched a brand new onboarding experience – and it’s better than ever! 
      • We’ve teamed up with Citizen Health for the easiest way to build vital natural history studies for our community. 
      • Citizen Health is a program that will collect all medical records in one convenient, online location. These records can then be shared with researchers, if you so choose!
    • Help us reach our goal! It just takes five minutes to sign up, completely digital. 
      • We need 7 more participants by the end of November to access exciting new data for research!
      • Citizen Health is currently only able to collect records for participants in the United States, BUT participants can join around the globe and upload their own documents.
        • Citizen Health is currently running trials to expand to other English-speaking countries, and then plan to extend further!
    • Click here to sign up for Citizen Health!
  • Upcoming Study Using TBRS Patient Registry Data
    • Dr. Kate Tatton-Brown is planning to publish on the TBRS Patient Registry data, particularly on symptoms and experiences of those with TBRS!
      • This will greatly help us to have solid information on lesser-known symptoms of TBRS, and improve clinical care for those with TBRS
    • If you have not participated in the Registry and would like to be involved, please consider signing up and completing surveys by December 1, 2024!
    • REMINDER: you are not required to participate in the TBRS Patient Registry and can revoke consent at anytime
      • To participate in the TBRS Patient Registry, click here!
  • REMINDER: The Power of Sharing Personal Stories and Wins! 
    • As we prepare our annual report to showcase all that the TBRS Community has accomplished, we’re reminded of how important each family’s voice is in shaping our progress. 
      • We’d love to include stories and personal wins from our patient and family community to celebrate your journeys and bring a heartfelt touch to our report. 
      • Your experiences give life to our mission, inspire others, and highlight the strength of our community.
    • If you’re interested in sharing, please reach out by email to [email protected] – we’d be honored to include your story!

Thanks and I hope you have a great weekend!

Kit Church, CARE Manager

Weekly Updates! – November 22, 2024 Read More »

Weekly Updates! – November 8, 2024

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Weekly Updates! - November 8, 2024

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

  • Upcoming Study Using TBRS Patient Registry Data
      • Dr. Kate Tatton-Brown is planning to publish on the TBRS Patient Registry data, particularly on symptoms and experiences of those with TBRS!
        • This will greatly help us to have solid information on lesser-known symptoms of TBRS, and improve clinical care for those with TBRS
      • If you have not participated in the Registry and would like to be involved, please consider signing up and completing surveys by December 1, 2024!
      • REMINDER: you are not required to participate in the TBRS Patient Registry and can revoke consent at anytime
        • To participate in the TBRS Patient Registry, click here!
  • EVENT: TBRS Friends and Family Support Group – November 20, 2024
      • This event will take place Wednesday, November 20, 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. 
  •  
    • Sign up for Citizen Health to accelerate TBRS research! 
      • Exciting News: Citizen Health, formerly Ciitizen, has launched a brand new onboarding experience – and it’s better than ever! 
        • We’ve teamed up with Citizen Health for the easiest way to build vital natural history studies for our community. 
        • Citizen Health is a program that will collect all medical records in one convenient, online location. These records can then be shared with researchers, if you so choose!
      • Help us reach our goal! It just takes five minutes to sign up, completely digital. 
        • We need 12 more participants by the end of November to access exciting new data for research!
        • Citizen Health is currently only able to collect records for participants in the United States, BUT participants can join around the globe and upload their own documents.
          • Citizen Health is currently running trials to expand to other English-speaking countries, and then plan to extend further!
      • Click here to sign up for Citizen Health!
  •  
    • The Power of Sharing Personal Stories and Wins! 
      • As we prepare our annual report to showcase all that the TBRS Community has accomplished, we’re reminded of how important each family’s voice is in shaping our progress. 
        • We’d love to include stories and personal wins from our patient and family community to celebrate your journeys and bring a heartfelt touch to our report. 
        • Your experiences give life to our mission, inspire others, and highlight the strength of our community.
      • If you’re interested in sharing, please reach out by email to [email protected] – we’d be honored to include your story!
  • Updates to DNMT3A and TBRS Patient Registry
      • We have been working to update our Patient Registry for some time now
        • Some of these changes include using standardized surveys, adding Heyn Sproul Jackson Syndrome in our Registry (HSJ is a different syndrome also caused by the DNMT3A gene), and translating the Registry into other languages.
        • We are excited to say that we are quickly progressing, and hope to have the Registry ready to launch in early 2025!
      • Thank you to all who have volunteered to help with our migration to a new and improved Registry! With your help, we will have a more comprehensive and accessible Patient Registry platform soon!
        • To participate in the TBRS Patient Registry, click here!
      • As we continue to get closer to launch, I will make more posts about these changes!
      •  

Thanks and I hope you have a great weekend! I’ll be out at a conference all next week, but I’ll have some great updates the following week!

Kit Church, CARE Manager

Weekly Updates! – November 8, 2024 Read More »

Weekly Updates! – November 1, 2024

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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

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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

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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

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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

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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 »

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