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Weekly Updates! – June 21, 2024

Weekly Updates! - June 21, 2024

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

    • Thanks to everyone who uploaded echocardiograms, EKGs, and cardiac data! 
      • These have been sent to a researcher studying patterns of heart problems in TBRS. We’re excited to see what this research discovers! 
        • Thanks again for the quick uploads from families! It is inspiring to see how engaged in research our community is!
        • To participate in the TBRS Patient Registry click here.
    • REMINDER: TBRS Registry → call for MRI imaging data – INFO coming soon
      • We have a researcher who is interested in studying how an area of the brain is affected in TBRS through the use of MRI data from the registry.
        • If you have MRI reports and/or images that you have not uploaded to the patient registry, we encourage you to do so! 
        • I will be looking into how best to obtain this data in the coming week and will share this information next friday.
  • REMINDER: Consider sharing your genetic report
    • We have had several patients in the past few months who think that they have TBRS – but looking at their genetic report showed they have a different disorder!
      • This is one of the many reasons that we ask for genetic report uploads. This not only helps research, but helps to find areas of confusion.
    • We kindly ask you to consider sharing your genetic report with us by uploading it to the TBRS Patient Registry or to Count Me In For TBRS. Your participation can make a huge difference and help us move closer to better understanding and treating TBRS.

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

Kit Church, Research Coordinator

Weekly Updates! – June 21, 2024 Read More »

Weekly Updates! – June 14, 2024

Weekly Updates! - June 14, 2024

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

  • Scientific and Medical Advisory Committee meeting update from this week
      • This week, we held a Scientific and Medical Advisory Committee meeting
      • Some topics of discussion included:
        • Publishing TBRS Patient Registry data
        • Brainstorming Overgrowth Syndromes Conference
        • Working groups for diagnostic and clinical guidelines for TBRS
      • I will provide more information on all of these topics as they develop!
  • Consider sharing your genetic report
    • Help us advance Tatton Brown Rahman Syndrome research by sharing your genetic report!
    • Your genetic report can make a big difference for several reasons:
      1. It helps us advance research on TBRS and the different genetic variants TBRS individuals have
      2. It ensures we can confirm the TBRS diagnosis
      3. Having more patients with genetic reports helps support clinical trials and treatments
      4. It strengthens our community by helping us know how many people are diagnosed worldwide!
    • We kindly ask you to consider sharing your genetic report with us by uploading it to the TBRS Patient Registry or to Count Me In For TBRS. Your participation can make a huge difference and help us move closer to better understanding and treating TBRS.
  • REMINDER: Opportunities to donate to the Biorepository!
    • We have more opportunities to donate to the TBRS Biorepository! 
    • Donating blood samples to the TBRS Biorepository contributes to further understanding TBRS and developing treatments
      • The TBRS Biorepository is a collection of patient samples that is readily accessible for research.
    • Below are the dates for upcoming rare disease conferences where you can donate to the Biorepository:
      • June 20-22 Denver, CO
      • July (TBD) – Philadelphia, PA
      • July 15 – Philadelphia, PA
      • July 27-28 – Philadelphia, PA
      • July 28-30 – Seattle, WA
      • September 25-28 – Atlanta, GA
      • October (TBD) – 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]
  • REMINDER: Learn more about Count Me In for TBRS and find out how it benefits research!
    • Count Me In for TBRS is a Patient Directory. This is a private collection of information from the TBRS community, including contact, location, genetic variant, and clinical information. 
    • This information is important to better estimate the number of patients with TBRS and their location to learn more about TBRS and encourage treatment development. This also helps to identify clinicians for other patients.
    • No identifiable information will ever be shared with outside parties. 

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

Kit Church, Research Coordinator

Weekly Updates! – June 14, 2024 Read More »

Weekly Updates! – June 7, 2024

Weekly Updates! - June 7, 2024

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

  • Overgrowth Syndromes Alliance – Epilepsy paper published! 
      • Reminder: The Overgrowth Syndromes Alliance (OSA) is a joint project with our colleagues at the Malan Syndrome Foundation, aiming to find similarities between and treatments for many Overgrowth Intellectual Disability syndromes (OGIDs).
      • We have been working on a paper for a Rare Epilepsy Special Collection on seizures and epilepsy in overgrowth-intellectual disability disorders, using anecdotal and registry data… and its finally been published!
      • We are excited to have this information published and available, and hope it will bring awareness to seizures/epilepsy in overgrowth syndromes.
  • Overgrowth Syndromes Alliance Brochure
      • We are excited to share our new Overgrowth-Intellectual Disability (OGID) Syndromes brochure created by the Overgrowth Syndromes Alliance (OSA). 
        • This brochure is designed to provide information about OGID syndromes and resources for families and medical professionals. 
        • We believe that widespread dissemination of this brochure can significantly enhance awareness and understanding of overgrowth syndromes, as well as encourage genetic testing for individuals to receive better care.
      • We encourage the members of our community to download and share this valuable resource with your medical providers to help further understanding of all OGIDs!
        • Click here to access the brochure and read the full story.
  • Jill attended the Groundwater Training
    • This two-day workshop was hosted by the Racial Equity Institute in collaboration with the Chan Zuckerberg Initiative. 
      • This training specifically focused on the systemic and structural manifestations of racism.
      • In our racially-structured society, people of color are forced to live with gross and often lethal health disparities. Unfortunately, the rare disease space is no different. Learning about the past will help us change the future. 
  • Learn more about Count Me In for TBRS and find out how it benefits research!
    • Count Me In for TBRS is a Patient Directory. This is a collection of information from the TBRS community, including contact information, location information, variant information, and clinical information. 
    • This information is important to better estimate the number of patients with TBRS and their location to learn more about TBRS and encourage treatment development.  This also helps to identify clinicians for other patients.
    • No identifiable information will ever be shared with outside parties. 
  • Upcoming: New Family Welcome Packet will soon be available in Spanish!
    • We are currently working to have the New Family Welcome Packet available in as many languages as possible.
      • We know that many of our families do not speak English, and want to ensure that our resources are accessible!
    • This resource will soon be available in Spanish,
      • If you are interested in assisting with translation for TBRS Community resources, please reach out to Jill Kiernan at [email protected]

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

Kit Church, Research Coordinator

Weekly Updates! – June 7, 2024 Read More »

Weekly Updates! – May 31, 2024

Weekly Updates! - May 31, 2024

Hello everyone! I hope you’re having a great last week of May! Here are some TBRS Community updates from this week:

  • Opportunities to donate to the Biorepository!
      • We have more opportunities to donate to the TBRS Biorepository! 
      • Donating blood samples to the TBRS Biorepository contributes to further understanding of TBRS and developing treatments
      • Below are the dates for upcoming rare disease conferences where you can donate to the Biorepository:
        • June 7-8 San Diego (Coronado), CA
        • June 20-22 Denver, CO
        • July (TBD) – Philadelphia, PA
        • July 15 – Philadelphia, PA
        • July 27-28 – Philadelphia, PA
        • July 28-30 – Seattle, WA
        • September 25-28 – Atlanta, GA
        • October (TBD) – 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]
  • Consider sharing your genetic report
    • Help us advance Tatton Brown Rahman Syndrome research by sharing your genetic report!
    • Your genetic report can make a big difference for several reasons:
  1. It helps us advance research on TBRS and different variants
  2. It ensures we can confirm the TBRS diagnosis
  3. Having more patients with genetic reports helps support clinical trials and treatments
  4. It strengthens our community by helping us know how many people are diagnosed worldwide!
  • We kindly ask you to consider sharing your genetic report with us by uploading it to the TBRS Patient Registry or to Count Me In For TBRS. Your participation can make a huge difference and help us move closer to better understanding and treating TBRS.
  • TBRS Disease Concept Model
    • We have a graduate researcher creating a disease concept model for TBRS.
      • A disease concept model is an analysis of all current TBRS literature, and interviews with TBRS families to gather information that has not been reported, to fully describe the disorder. 
      • This is like a precursor to clinical guidelines, and helps get information published that might not be in literature at the moment!
    • We are beginning to schedule interviews for the Disease Concept Model, to get information on the patient experience. 
      • If you are interested in participating in this project through an interview, please reach out to me at [email protected].

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

Kit Church, Research Coordinator

Weekly Updates! – May 31, 2024 Read More »

Weekly Updates! – May 24, 2024

Weekly Updates! - May 24, 2024

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

    • REMINDER: TBRS Friends and Family Support Group THIS WEEKEND
      • Our next support group will be May 26, 2024 from 3-4pm EDT.
      • This is a virtual meeting. Meet with other parents, families, friends. and caregivers, and get to know one another. All are welcome!
  • TBRS Disease Concept Model
    • We have a graduate researcher creating a disease concept model for TBRS.
      • A disease concept model is an analysis of all current TBRS literature, and interviews with TBRS families to gather information that has not been reported, to fully describe the disorder. 
      • This is like a precursor to clinical guidelines, and helps get information published that might not be in literature at the moment!
    • We are beginning to schedule interviews for the Disease Concept Model, to get information on the patient experience. 
      • If you are interested in participating in this project through an interview, please reach out to me at [email protected].
  • Virtual conference this week – Collaborations and project management
    • Jill, Eric, and Kit attended a conference this week on projects and collaborations. We focused on the Overgrowth Syndrome Alliance, and used this opportunity to plan for future collaborative tasks. 
      • This conference was very helpful for streamlining programs in the future. 
  • REMINDER: Project WellCAST is now enrolling caregivers!
    • Project WellCAST is an NIH-funded clinical trial enrolling legal guardians of 2 to 35-year old patients with a rare, neurogenetic disorder (like ours)! 
    • This study is focused on CAREGIVER and FAMILY well-being
    • If you are interested and eligible for the research study:
      • You’ll receive a FREE 12-week support program that can be completed 100% by telehealth!
        • This includes FREE mental health therapy, self-guided resources, and/or live peer coaching from other caregivers of neurogenetic conditions. 
      • You will also provide data about your experiences and feelings before, during, and after your support program by completing standard forms real-time snapshot surveys sent to your smartphone. 
        • You will be compensated up to $100 for completing these forms. Data collection for this project spans about 6.5 months, including the 12 weeks you are receiving your support program.
    • Interested?

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

Kit Church, Research Coordinator

Weekly Updates! – May 24, 2024 Read More »

Weekly Updates! – May 17, 2024

Weekly Updates! - May 17, 2024

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

  • We have a new intern! 
    • Get to know our new intern, Kaho Kato, by reading her bio below!: 
      • My name is Kaho Kato. I am thrilled to start my practicum with the TBRS community. I am in a master of public health program at the University of Pittsburgh. Prior to starting this program, I completed my first master’s degree in genetic counseling and worked as a genetic counselor for 6 years in Japan. I have worked in cancer, prenatal, and general areas at general hospitals and a university hospital. In my free time, I like watching movies and traveling. Currently, I traveled to Puerto Rico and Portugal!
    • We are so excited to have Kaho joining our team this summer! Her wealth of genetics knowledge and her passion for helping others will be a great asset to our community! 
  • 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. Scott Mellis to this committee!
      • Dr. Mellis has experience with clinical development for rare disorders, having worked in several different roles at pharmaceutical companies. 
        • Having him on our advisory board will give a great perspective on our journey to treatments and clinical trials. 
  • REMINDER: Project WellCAST is now enrolling caregivers!
    • Project WellCAST is an NIH-funded clinical trial enrolling legal guardians of 2 to 35-year old patients with a rare, neurogenetic disorder (like ours)! 
    • This study is focused on CAREGIVER and FAMILY well-being
    • If you are interested and eligible for the research study:
      • You’ll receive a FREE 12-week support program that can be completed 100% by telehealth!
        • This includes FREE mental health therapy, self-guided resources, and/or live peer coaching from other caregivers of neurogenetic conditions. 
      • You will also provide data about your experiences and feelings before, during, and after your support program by completing standard forms real-time snapshot surveys sent to your smartphone. 
        • You will be compensated up to $100 for completing these forms. Data collection for this project spans about 6.5 months, including the 12 weeks you are receiving your support program.
    • Interested?
  • REMINDER: TBRS Friends and Family Support Group
    • Our next support group will be May 26, 2024 from 3-4pm EDT.
    • This is a virtual meeting. Meet with other parents, families, friends. and caregivers, and get to know one another. All are welcome!

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

Kit Church, Research Coordinator

Weekly Updates! – May 17, 2024 Read More »

Weekly Updates! – May 10, 2024

Weekly Updates! - May 10, 2024

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

  • Research opportunity: Project WellCAST is now enrolling caregivers!
    • Project WellCAST is an NIH-funded clinical trial enrolling legal guardians of 2 to 35-year old patients with a rare, neurogenetic disorder (like ours)! 
    • This study is focused on CAREGIVER and FAMILY well-being
    • If you are interested and eligible for the research study:
      • You’ll receive a FREE 12-week support program that can be completed 100% by telehealth!
        • This includes FREE mental health therapy, self-guided resources, and/or live peer coaching from other caregivers of neurogenetic conditions. 
      • You will also provide data about your experiences and feelings before, during, and after your support program by completing standard forms real-time snapshot surveys sent to your smartphone. 
        • You will be compensated up to $100 for completing these forms. Data collection for this project spans about 6.5 months, including the 12 weeks you are receiving your support program.
    • Interested?

 

  • REMINDER: We’ve received several submissions of echocardiograms, EKGs, and cardiac data!
    • We have a researchers who are interested in studying heart problems in TBRS through the use of the registry data, primarily echocardiograms and EKGs.
      • If you have echocardiograms and EKGs that you have not uploaded to the patient registry, we encourage you to do so! 
      • You can also participate by filling out the cardiology survey in the TBRS Patient Registry.
      • To have these documents included in the study, please have these submitted before Monday, May 13.

 

  • REMINDER: TBRS Registry → call for MRI imaging data
    • We have a researcher who is interested in studying how an area of the brain is affected in TBRS through the use of MRI data from the registry.
      • If you have MRI reports and/or images that you have not uploaded to the patient registry, we encourage you to do so! 

 

  • EVENT: TBRS Friends and Family Support Group
    • Our next support group will be May 26, 2024 from 3-4pm EDT.
    • This is a virtual meeting. Meet with other parents, families, friends. and caregivers, and get to know one another. All are welcome!

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

Kit Church, Research Coordinator

Weekly Updates! – May 10, 2024 Read More »

Weekly Updates! – May 3, 2024

Weekly Updates! - May 3, 2024

Hello everyone! I hope you’re having a great week. I have several TBRS Community updates from this week:

    • REMINDER: We’ve received several submissions of echocardiograms, EKGs, and cardiac data!
      • We have a researcher who is interested in studying heart problems in TBRS through the use of the registry data, primarily echocardiograms and EKGs.
        • If you have echocardiograms and EKGs that you have not uploaded to the patient registry, we encourage you to do so! 
        • You can also participate by filling out the cardiology survey in the TBRS Patient Registry.
        • To have these documents included in the study, please have these submitted before Monday, May 13.
  •  
    • TBRS Registry → call for MRI imaging data
      • We have a researcher who is interested in studying how an area of the brain is affected in TBRS through the use of MRI data from the registry.
        • If you have MRI reports and/or images that you have not uploaded to the patient registry, we encourage you to do so! 
  •  
    • Global Genes Rare Drug Development Symposium
      • This week, I attended this conference, which focused on the pathway to drug discovery for rare diseases, and new tools and programs that can aid in this.
        • The conference was very engaging, and I identified some tools that might help us: 
          • increase diagnosis, 
          • estimate TBRS prevalence, and 
          • compare our disorder with other Overgrowth syndromes for use in clinical trials!
        • If you have any questions about this conference, feel free to reach out to me
  •  
    • New TBRS Community board members
      • We have 3 new members of the board to introduce:
        • Robert Thibodeau
        • Zoe Wisnoski
        • Mónica Bejano Dominguez
      •  All three of our new board members are TBRS parents and provide unique perspectives to the board!
  •  
    •  New members 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. Irene Valenzuela and Dr. Vicken Totten to this committee!
        • Dr. Valenzuela is a clinical geneticist in Spain who is very involved with our Spanish community. 
          • Having her on our advisory board will give a great perspective on research and care in Spain and other countries in Europe. 
        • Dr. Totten previously worked as an ER doctor. She is also a parent to an individual with TBRS!
          • Vicken has worked tirelessly to learn more about TBRS and get papers published to improve care for diagnosed individuals.
  •  
    • TBRS Disease Concept Model
      • We have a graduate researcher creating a disease concept model for TBRS.
        • A disease concept model is an analysis of all current TBRS literature, and interviews with TBRS families to gather information that has not been reported, to fully describe the disorder. 
        • This is like a precursor to clinical guidelines, and helps get information published that might not be in literature at the moment!
      •  I will post updates on this project as it evolves!
  •  
    • Update: Overgrowth Syndromes Alliance (OSA) paper to be published!
      • OSA is a joint project with our colleagues at the Malan Syndrome Foundation, aiming to find similarities between and treatments for many Overgrowth Intellectual Disability syndromes (OGIDs).
      • We have been working on a paper for a Rare Epilepsy Special Collection on seizures and epilepsy in overgrowth-intellectual disability disorders, using anecdotal and registry data.
        • This paper was recently accepted and will be published soon!
        • I will post a link to this paper when it has been published. We hope it will bring awareness to seizures/epilepsy in overgrowth syndromes.
  •  
    • Interested in hosting a TBRS fundraiser
      • If you are interested in holding a fundraiser, the TBRS Community is here to assist every step of the way!
        • Every year, families help us raise over $100,000 for TBRS research and support resources.
        • Fundraising events include cornhole tournaments, 5K runs, progressive dinners, and small home gatherings at your home, 
          • Each event plays a crucial role in raising funds and bringing our community closer. 
      • If you’re interested in hosting an event, our Development Director, Chelsea Spence, is here to help!
        • Chelsea is a fundraising professional and can provide support with ideas, marketing, and sponsorships to ensure your event is a success!
          • We know fundraising seems scary at first, but we are here to make it as easy and successful as possible.
        • Reach out to Chelsea at [email protected]
          • She will also be planning a group zoom meeting soon – details to be posted soon!
    •  
  •  

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

Kit Church, Research Coordinator

Weekly Updates! – May 3, 2024 Read More »

Weekly Updates! – April 26, 2024

Weekly Updates! - April 26, 2024

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

  • Biorepository samples IN ACTION!
    • The TBRS Biorepository is a collection of patient samples that is readily accessible for research.
    • Biorepository samples have been requested and sent for 2 Biomarker studies!
      • A biomarker is a measurable factor or biological molecule specific to TBRS that can be analyzed to test potential treatments. 
    • These studies help us in our goal to identify therapeutics for TBRS, and this research would not be possible without the samples donated from TBRS patients!
      • If you would like to participate in the TBRS Biorepository, click here.
  • TBRS Baseball Card (Trading Card) – new translations!
    • The TBRS Baseball Card (aka the TBRS Trading Card) is a resource with personalized information about a TBRS patient that caregivers can share with clinicians and other support professionals!
      • This resource has been translated into German and Spanish!
      • Click here for more information or to request your own card.
  • New Family Welcome Packet – translations! 
    • The TBRS Community New Family Welcome Packet is a resource that helps TBRS families, new and current, navigate TBRS information, support resources, and research participation. 
      • This document is currently in English but is being translated into Spanish and German.
      • To access this resource, click here.
  • REMINDER: TBRS Registry → call for echocardiograms, EKGs, and cardiac data
    • We have a researcher who is interested in studying heart problems in TBRS through the use of the registry data, primarily echocardiograms and EKGs.
      • If you have echocardiograms and EKGs that you have not uploaded to the patient registry, we encourage you to do so! 
      • You can also participate by filling out the cardiology survey in the TBRS Patient Registry.

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

Kit Church, Research Coordinator

Weekly Updates! – April 26, 2024 Read More »

Weekly Updates! – April 12, 2024

Weekly Updates! - April 12, 2024

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

  • REMINDER: TBRS Exercise Challenge – NOW LIVE
    • The TBRS Exercise Challenge kicked off April 1!
      • The TBRS Challenge is a “Move-A-Thon” that raises money for TBRS while promoting a healthy lifestyle. 
      • Participants pick movement exercises, set goals, and collect sponsors for the event.
      • This year, money raised will be used to fund updates to the TBRS Patient Registry, including translations and standardization of data to increase the value of your efforts to help us understand TBRS!
    • Click here to support the challenge!
  • TBRS Registry → call for echocardiograms, EKGs, and cardiac data
    • We have a researcher who is interested in studying heart problems in TBRS through use of the registry data, primarily echocardiograms and EKGs.
      • If you have echocardiograms and EKGs that you have not uploaded to the patient registry, we encourage you to do so! 
      • You can also participate by filling out the cardiology survey in the TBRS Patient Registry.
  • EVENT: TBRS Parent and Caregiver Support Group
    • Saturday, April 20, 3-4 pm EDT
    • The TBRS Parent and Caregiver Social/Support Group is a virtual meeting. Connect with other parents, families, and caregivers, and get to know one another. All are welcome!
    • Click here to register.
  • Overgrowth Syndromes Alliance (OSA) paper
    • OSA is a joint project with our colleagues at the Malan Syndrome Foundation
    • We have been working on a paper for a Rare Epilepsy Special Collection on seizures and epilepsy in overgrowth-intellectual disability disorders
      • This paper is in revision with the journal.
      • I will post a link to this paper when it has been published. We hope it will bring awareness to seizures/epilepsy in overgrowth syndromes.

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

Kit Church, Research Coordinator

Weekly Updates! – April 12, 2024 Read More »

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