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Weekly Updates! – March 1, 2024

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Weekly Updates! - March 1, 2024

Hello everyone! Hope you had a great Rare Disease Day and are excited for TBRS Awareness Month. Here are some TBRS Community updates from this week:

  • Rare Disease Day – mini newsletter
  • Random Kindness for TBRS
    • In honor of Rare Disease Day and TBRS Awareness Month, we developed a “Random Acts of Kindness” flyer for TBRS
    • The campaign invites individuals to carry out random acts of kindness (like buying a stranger a coffee or volunteering in the community) 
    • After these gestures, participants are encouraged to distribute a TBRS Random Acts of Kindness Flyer
      • This flyer educates others on TBRS and encourages them to pay the random act of kindness forward
    • Read the full story and download the flyer here.
  • Surveillance Recommendations
    • We recently posted some Surveillance Recommendations on the TBRS Community website!
      • These recommendations were developed from the information in this paper by Dr. Kate Tatton-Brown.
      • NOTE: these are not guidelines, but are recommendations based on information gathered from TBRS patients.
    • Bring these recommendations to your next clinicians visit!
  • TBRS Exercise Challenge 2024
    • We have officially launched the 2024 TBRS Exercise Challenge! 
    • To register, visit the TBRS Exercise Challenge website and click “join team”
      • Here you can sign up and create your team for the challenge!
    • Anyone can participate in the challenge – and all of the funds raised go to improving the Patient Registry and making data more easily accessible for research!
    • If you have any questions or need help setting up your team, please contact me at [email protected].
  • TBRS Community Biorepository – surveys needed!
    • COMBINEDBrain, the host of our Biorepository, is conducting a study to try and identify biomarkers, or a measurement of how well a treatment works for TBRS in the future.
      • This is necessary to find for any treatment study prior to clinical trials.
    • If you donated to the Biorepository at the TBRS Summit, there might be some surveys still needed from you for this project.
      • You can complete surveys for the Biomarker project by logging into Matrix.
      • I have emailed all participants who are missing surveys, so please check your email!
    • Please email me if you have any questions!

Thank you, and I hope everyone has a great weekend!

Kit Church, Research Coordinator

Weekly Updates! – March 1, 2024 Read More »

Celebrate Rare Disease Day by joining the TBRS Exercise Challenge as a participant

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We need you! Celebrate Rare Disease Day by joining the TBRS Exercise Challenge as a participant

In April 2024, the TBRS Community is raising $25,000 to accelerate the TBRS patient registry and drive treatments and a cure for TBRS. 

The TBRS Challenge is a “Move-A-Thon” that raises money for TBRS while promoting a healthy lifestyle. Show your support – become a participant! Create your own team and promise to exercise for the month of April. Ask your friends and family to pledge their support by donating. Participants can choose what type of exercise they will do. 

Your participation will help us expand the TBRS Patient Registry and get valuable patient data into the hands of our scientists and clinicians. By doing so, clinicians around the world will finally understand the symptoms associated with TBRS, create appropriate surveillance and treatment guidelines, and move the needle forward on developing treatment options for people affected by TBRS. We will also be able to identify more patients with TBRS, and provide proper support and care.

To start your own fundraising challenge page, visit the TBRS Exercise Challenge page. Scroll down a little and you will click on either “Fundraise” or “Join a Team” buttons. In just a few short steps you’ll be able to set up your personal fundraising page.

We aim to put the fun in fundraising! We will host a few friendly challenges throughout the month of April to rally our fundraising community. Be sure to pay attention to your emails throughout the month! 

This fundraiser was thought up by our very own, Ashley Hatton! Thanks Ashley. You’re a true inspiration! Have questions? Need help setting up your page? We are here to help. Email [email protected] 

Celebrate Rare Disease Day by joining the TBRS Exercise Challenge as a participant Read More »

Count Me In for TBRS – Call for Action!

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One of the most common questions we hear from patients, families, doctors, and researchers is, “How many people in the world have TBRS?” Count Me In for TBRS aims to provide an answer!

Count Me in for TBRS is our Contact Registry, which collects contact and demographic information from diagnosed individuals and families. 

By gathering information from families, we can more accurately estimate how many people worldwide have TBRS. We can also provide researchers with more specific data, such as how many people have TBRS in a certain country, or what races or ethnicities are represented in our community. The contact information also allows the TBRS Community to contact families in the event of clinical trials if they so choose. 

No personally identifiable information will be shared with outside parties (clinicians, researchers, pharma, etc.) without the family’s permission. Count Me In for TBRS also allows families to choose how they would like their information used. For instance, if a family does not want to share their location, they are not required to. Additionally, if a family does not wish to be contacted they can choose this option.

Participate in Count Me In for TBRS to help us understand how many families are affected worldwide. Participation only takes a few minutes, and it helps us support families and further research on TBRS! Click here to participate!

Count Me In for TBRS – Call for Action! Read More »

New Family Meet-Ups — Upcoming Dates!

Events /

The TBRS Community hosts quarterly virtual meet-ups for newly diagnosed and existing members of the community. This is an informal gathering to answer questions, talk about current TBRS-related research, review what the TBRS Community has to offer, and simply get to know each other. We have several New Family Meet-Ups scheduled for 2024!

For more information on New Family Meet-Ups and other events, subscribe to our calender here.

New Family Meet-Ups — Upcoming Dates! Read More »

Surveillance Recommendations

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Management & Surveillance Recommendations

The TBRS Community would like to share a set of recommendations for initial clinical management and ongoing surveillance in TBRS. These recommendations were published in the GeneReview for Tatton Brown Rahman Syndrome (click here to view the full document).

These recommendations may be shared with clinicians and healthcare professionals to guide the clinical management of TBRS.

See recommendations below:

Initial Management Recommendations (immediately following TBRS diagnosis)

System Evaluation More information
Constitutional Measurement of weight, length/height, & head circumference Assess for macrosomia.
Development Developmental assessment Assess motor, adaptive, cognitive, & speech/language evaluation. Evaluate for early intervention / special education.
Psychiatric / Behavioral Neuropsychiatric evaluation (For individuals over 12 months) screening for behavior concerns including sleep disturbances, ADHD, anxiety, & traits suggestive of ASD.
Neurologic Neurologic evaluation Consider brain MRI (if clinical symptoms) & consider EEG (if seizures are a concern).
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evaluation Assessment of gross & fine motor skills, joint hypermobility, kyphoscoliosis, mobility, ADL, need for adaptive devices, & need for physical / occupational therapy.
Cardiovascular Baseline echocardiogram Assess for structural heart defects & aortic dilatation.
Respiratory Polysomnography Assess for sleep apnea (if suggested by clinical symptoms).
Genitourinary Exam for cryptorchidism in males Consider assessment for vesicoureteral reflux in those with a history of recurrent urinary tract infections.
Hematologic / Lymphatic Consider complete blood count (CBC) with differential Inform patients/families of potential risk of hematologic malignancy, with an emphasis on symptom awareness. A low threshold should be adopted for investigation for malignancy (in case of symptoms).
Genetic counseling By genetics professionals Inform affected persons & their families of the nature, inheritance, & implications of TBRS to facilitate medical & personal decision making.
Family support & resources Assess the need for community support or online resources, social work involvement for parental support, & home nursing referral.

Ongoing Surveillance Recommendations

System Evaluation Frequency
Development Monitor developmental progress & educational needs. Every visit
Psychiatric / Behavioral Behavior assessment for anxiety, attention, & aggressive or self-injurious behavior. Every visit
Neurologic Monitor those with seizures. Assess for new manifestations such as seizures & changes in tone. Every visit
Musculoskeletal Physical medicine, occupational / physical therapy assessment of mobility, kyphoscoliosis, & pain. Every visit
Respiratory Assess for signs & symptoms of sleep apnea & infections. Every visit
Hematologic / Lymphatic Assess for signs & symptoms of blood malignancy. Every visit
Family / Community Assess family need for social work support & care coordination. Every visit
Cardiovascular Echocardiogram to assess aortic root indices. Ongoing surveillance will be determined by size of aortic root, advice of cardiologist, health care framework, & data from longitudinal studies.

If you have any questions about these recommendations, please reach out to our Research Coordinator at [email protected].

Ostrowski PJ, Tatton-Brown K. Tatton-Brown-Rahman Syndrome. 2022 Jun 30. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK581652/

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Weekly Updates! – February 23, 2024

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Weekly Updates! - February 23, 2024

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

  • Checking in with our Research Network
    • This week, we’ve been reaching out to the members of our Collaborative Research Network to get research updates and remind them of our resources, including: 
      • New Patient Priority results
        • Click here to participate in the Patient Priority Survey
      • Biorepository
        • Click here to participate in the Biorepository
      • Patient Registry
        • Click here to participate in the Patient Registry
  • Development Director – interviews
    • We’ve had several interviews for the Development Director position at the TBRS Community!
    • We’re hoping to finalize our decision in the next couple of weeks, and have our new Development Director introduced soon!
  • Overgrowth Syndromes Alliance 
    • OSA is a joint project with our colleagues at the Malan Syndrome Foundation
    • We are creating educational materials for clinicians to raise awareness about overgrowth syndromes, including a pamphlet
  • Presentation at Washington University in St. Louis
    • Washington University in St. Louis is hosting a Rare Disease Day event February 29
    • Our Vice President, Kerry Grens, will be presenting on the Overgrowth Syndromes Alliance and our Patient Priority Survey results
      • We’re excited to get this information out to as many researchers as possible to facilitate patient-centered research for TBRS and other overgrowth syndromes.
      • This will also bring awareness to the Overgrowth Syndromes Alliance and the TBRS Community.
  • 5th Annual TBRS Exercise Challenge 
    • The TBRS Exercise Challenge was designed by Ashley Hatton, a very active member of the TBRS Community!
    • Through this challenge, individuals with TBRS commit to a daily exercise of their choice in exchange for pledges and donations to the TBRS Community. This presents an exciting fundraising opportunity while encouraging healthy practices for individuals with TBRS.
    • In March, individuals can sign up for the Challenge and begin collecting pledges. The Challenge takes place throughout the month of April!
      • We will have a registration link available soon!
      • If you have any questions, email [email protected]
  • 10th Anniversary of the Discovery of TBRS – Time to Celebrate!
    • In addition to celebrating Rare Disease Day on February 29, we have another exciting day coming up in the next few weeks: TBRS Awareness Day and the 10th anniversary of the discovery of TBRS!
      • We are planning some events to celebrate the anniversary, and would love feedback from the community!
        • If you have any ideas to celebrate the 10th anniversary of the discovery of TBRS, reach out to me at [email protected]

Thank you, and I hope everyone has a great weekend!

Kit Church, Research Coordinator

Weekly Updates! – February 23, 2024 Read More »

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