Tatton Brown Rahman Syndrome (TBRS) Community Inc.

💚 Join Us in Thanking the Glenn Family! 💚 We are beyond grateful to the Glenn Family for hosting their 6th annual Stryker Strong Golf Tournament and for their incredibly generous donation of $30,000 to the Tatton Brown Rahman Syndrome Community. The Glenn Family’s dedication to moving science forward and helping other families is truly remarkable. Their passion for creating change is deeply personal—after their son, Stryker, suffered a major seizure leading to an anoxic brain injury, they knew they wanted to prevent other families from enduring the same heartbreak. This donation will help fund crucial resources and launch a seizure education program aimed at increasing awareness and prevention. Stay tuned for updates on this exciting new initiative that will make a real difference in the lives of so many families. Thank you, Glenn Family, for your unwavering commitment and generosity. Your support is not only honoring Stryker’s journey but also changing the future for so many others. 💙💪

✨ Reflecting on Three Transformative Years in the Rare As One Network ✨ As I wrap up attending the 2024 CZI Science in Society Meeting, I can’t help but reflect on the incredible journey we've had these past three years as a proud member of the Rare As One Network. Through the generous $600,000 grant and invaluable consulting and training, we’ve made monumental strides as a rare disease community. 💙 Just some of the highlights of our journey include: - Hosting the 2023 TBRS Summit - Funding the development of research tools in our Researcher’s Toolkit - Launching the Overgrowth Syndromes Alliance - Establishing a Biorepository and launching the TBRS Patient Registry - Growing our Collaborative Research Network from 7 members to over 200+! - Directly funding 7 impactful research projects - Recruiting patient participants for critical research efforts across multiple institutions - Attending conferences to spread awareness and advocate for rare disease research - Offering the special needs planning group coaching sessions for families - Building a strong team - Expanding support and social groups, family meet-ups, virtual family conference participation, and sending care packages - Translating and increasing the accessibility of our materials - Publishing key papers, including the OGID seizure paper, with more on the horizon - Partnering with patients to determine research priorities, leading to impactful initiatives - Expanding the TBRS Regional Coordination Program Together, we’ve not only advanced research and understanding of Tatton Brown Rahman Syndrome, but we’ve also built a strong, supportive, and connected community. As we look to the future and the end of this transformative Rare As One funding, we know that our work isn’t done. The need for continued momentum, more discoveries, and greater support for families is more urgent than ever. We’ve come so far, and we won’t stop now. We are dedicated to driving progress, growing our initiatives, and making sure that no one faces TBRS alone. 💙 Let’s keep pushing for change, for hope, and for every family touched by rare disease. Together, we can make the impossible possible.

Does your loved one have a Variant of Uncertain Significance (VUS) on their genetic report? We are thrilled to share a major update that will significantly impact families affected by Tatton Brown Rahman Syndrome (TBRS)! The haploinsufficiency score for the DNMT3A gene has been raised from 1 to 3, meaning there is now sufficient evidence that a loss-of-function mutation in this gene is directly linked to TBRS. What does this mean? Clinical labs are now more likely to classify variants in DNMT3A as pathogenic, reducing the number of 'variants of uncertain significance' (VUS) that families receive when seeking a diagnosis. This breakthrough will make it easier for families to receive a clear diagnosis of TBRS, allowing them to access the support and resources they need sooner. This progress is the result of collaborative research and advocacy, and it moves us closer to ensuring that no family has to navigate this journey without answers. We're so excited about this advancement and its potential to help more families in our community! If your loved one has a loss of function or gene deletion that is currently classified as a VUS, this would be a reason to re-contact the clinical lab to ask about getting the variant reclassified to possibly receive a definite diagnosis. #TattonBrownRahmanSyndrome #TBRSCommunity #RareDisease #Genetics #DNMT3A #DiagnosisMatters"

In honor of International Children’s Growth Awareness Day, the Overgrowth Syndromes Alliance (OSA) would like to emphasize the importance of not overlooking overgrowth+ in individuals. View our OSA bifold (linked below) to learn more and access a list of overgrowth syndromes: https://lnkd.in/eWwGtafd Malan Syndrome Foundation Tatton Brown Rahman Syndrome (TBRS) Community Inc. SOTOS SYNDROME SUPPORT ASSOCIATION Smith-Kingsmore Syndrome Foundation #OvergrowthSyndromesAlliance #OSA #DontOverlookOvergrowth #StandardsofCareinRare National Organization for Rare Disorders Global Genes

Attention TBRS Community and Allies! Are you a family member, caregiver, clinician, or researcher involved or affected by Tatton Brown Rahman Syndrome (TBRS)? We invite you to join our private Facebook group, which is dedicated to supporting those affected by TBRS and advancing patient-centered research. Our private group provides a safe and supportive space for sharing experiences, resources, and information. By joining, you'll have access to a network of individuals who understand the unique challenges and triumphs of living with TBRS. We're here to connect, support, and empower each other on this journey. Let's come together to make a difference in the lives of those affected by TBRS. Your voice matters! Click here and answer a few questions to join this group. https://lnkd.in/eC2CTyw4

August is National Make-a-Will Month! Did you know you can create a lasting legacy by including the Tatton Brown Rahman Syndrome (TBRS) Community in your will? Your gift costs nothing during your lifetime but ensures that we can continue our vital work supporting families and advancing research. By adding TBRS to your estate plans, you become part of a special group of supporters dedicated to making a difference for generations to come. If you’re interested in joining, let us know through this secure form: https://lnkd.in/eR7YszNC #LegacyGiving #MakeAWIllMonth #TBRSCommunity #DorothyHattonLegacySociety #PlannedGiving

🌟 Have you remembered to sign up for Citizen yet?🌟 https://lnkd.in/eSWtUY3j We’re thrilled to introduce Citizen—a powerful tool designed to make managing medical records easier and more impactful for our community! 📋✨ With Citizen, you can: Keep all your medical records in one secure place. Easily send your records to new providers. Choose to share deidentified information to help advance our understanding of TBRS, just like a Patient Registry! Signing up is a breeze: Register and provide a list of your healthcare providers. Citizen does the work to gather all your records. Access your records on a password-protected portal, with the option to share them to contribute to valuable research. It’s more than just a patient portal—it’s a chance to be part of a community effort to better understand and manage TBRS. 🌈 Join us in using Citizen and make a difference for our loved ones! 💪💙

🌟 Exciting News! 🌟 We are thrilled to welcome three incredible experts to our Medical and Scientific Advisory Committee: Dr. Irene Valenzuela, Dr. Rosanna Weksberg, and Dr. Vicken Totten! 🎉 Their wealth of knowledge and dedication to improving clinical care and finding treatments will undoubtedly enhance the lives of families affected by TBRS. With their expertise and commitment, we are confident that our community is in excellent hands. Together, we will continue to make strides towards a brighter future for everyone in the TBRS community. Please join us in welcoming these amazing professionals! 👏❤️ #TBRSCommunity

We are excited to announce that Kit Church, previously our Research Coordinator, has had a recent position change to: Community and Research Engagement (CARE) Manager for the TBRS Community! Read more on our website: https://lnkd.in/eVA7zS2c

🌟 Attention TBRS Families! 🌟 We’re excited to introduce you to Citizen—your new partner in managing medical records and contributing to TBRS research! With Citizen, you can: Store all your medical records securely in one place. Effortlessly share records with new healthcare providers. Opt to share deidentified data to help us understand TBRS better, similar to a Patient Registry! Getting started is simple: Visit https://lnkd.in/e6zVZkYA and list your healthcare providers. Citizen gathers all your records for you. Access everything through a password-protected portal, and decide if you'd like to share your data to support valuable research. Citizen is more than just a patient portal—it's a way to make a meaningful impact and support the TBRS community. 🌟 Join us and be a part of this important initiative! 🌺