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

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]

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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!

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Random Kindness for TBRS – Rare Disease Day 2024 and the 10th Anniversary of TBRS

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The TBRS Community is spearheading an inspiring initiative to raise awareness and support for Tatton Brown Rahman Syndrome (TBRS) through the Random Acts of Kindness Campaign for Rare Disease Day 2024, and to mark the 10th Anniversary of when TBRS was first identified.

Centered around the spirit of compassion, the campaign invites individuals to carry out random acts of kindness, from buying a stranger a coffee to volunteering in the community. After these gestures, participants are encouraged to distribute a TBRS Random Acts of Kindness Flyer, which not only educates the recipient about TBRS but also encourages them to pay the random act of kindness forward.

“The essence of this campaign is to foster a community of care and support, touching lives in meaningful ways,” explains Jill Kiernan, TBRS Community’s Executive Director. “We believe that through simple acts of kindness, we can bring about significant support for those affected by TBRS and inspire a chain reaction of goodwill.”

This campaign not only highlights the critical need for community backing for rare diseases but also the power of collective goodwill in creating a more empathetic world. As tales of kindness unfold, the campaign offers a path for everyone to make an impact.

To join the Random Acts of Kindness Campaign print the flyer below, make a random act of kindness, and share the flyer with the recipient of your act. Spread the love!

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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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“Shared Journeys: The Impact of the TBRS Summit on Families in 2023” Written by Zoe Wisnoski

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The shining star of 2023 for many families in the TBRS Community was the TBRS Summit, held at Morgan’s Wonderland Camp in San Antonio, Texas. Participants echoed the same underlying feeling over and over: the familiarity of shared experience is something we, as families with a rare disease, rarely get. As caregivers, we might have logically anticipated an immediate bond when coming together, but witnessing and experiencing such a concentrated gathering of our community truly leaves one breathless. “No words can describe what it felt like to be surrounded by people who get it” (Katie Brennan) and “…just being able to relax, feel accepted and laugh, cry with others is absolutely a life-changing experience.” (CathyMcClenahen)

Additionally, watching your child flourish in such a unique environment brings a whole different level to the impact. Erin Rooker stated, “Seeing my child surrounded by people who understand and act just like her was special. She was so comfortable and at home – like we were with family.” And family is a perfect word to describe both that weekend and the care that is shown throughout the year at various events.

Part of that feeling of family is the visual and personal familiarity many diagnosed individuals have. Jane Miller Hatton’s family found that at the conference. “The highlight for Ashley was meeting a new friend… They literally could be sisters. Ashley enjoyed her so very much.” Others have expressed a similar long-lasting connection. “Josh felt so loved, accepted, and appreciates all the new friends he makes every time.”(Cathy McClenahen)

“We felt very accepted, and that is rare,” states Vicken Totten. The difficulty of pure acceptance is something many families face on a regular occurrence. This opportunity for the TBRS Community’s acceptance is not isolated. Throughout the year in social events, support groups, and our community Facebook page we come together from across the globe and create a safe space to find friendship. Zoe Wisnoski recalled a social zoom that occurred this past summer, “As I sat with my son to help him interact with the group and the trivia, his face was glowing. He communicated few words, but that hour will stay with me.”

While the creation of family may have stood out during the Summit, the magnitude of research was a close second. Katie Brennan stated, “We went eager to meet people who could relate to us and we could learn from. The doctors, geneticists, TBRS staff, volunteers, and information knocked it out of the park.” Even participants who went to previous conferences, like Cathy McClenahen, were blown away: “We are truly amazed after returning from every conference at how much research has been done and is still progressing!”

As we all know, 2023 was filled with more than just the Summit weekend. And families reflected on those daily moments. Sixta Garcia outlines a memory – so familiar for many families – that will stick with her moving forward: “During an outing to our local children’s museum [my son] was insistent that he could cross the rope bridge, and to my amazement, he was able to cross it entirely on his own…Before this day I had no idea what he could really accomplish or if he’d be able to do this without my help, and he was able to prove me wrong. It’s a perfect example of all the accomplishments that our loved ones who are diagnosed with TBRS can achieve with just a little perseverance and encouragement.”

Having the TBRS Community present on not just magical moments like the Summit, but every-day moments shared online, creates a space for victories to be celebrated in the way they should be, by people who understand what an enormous accomplishment each small step is. I am thankful that 2023 flourished in this fellowship, and I can’t wait to see how much farther our community will grow in 2024.

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Kacee Richter: The Heartbeat of Our TBRS Family

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Imagine our community as a huge, heartwarming campfire. We’re all gathered around, sharing stories, warmth, and light. In this circle, every spark contributes to the blaze, and today we celebrate a special volunteer who keeps the flames burning bright and strong – Kacee Richter.

Kacee isn’t just a founding board member; she’s the heart and soul behind so much of what we do. From the get-go, she’s been all in, helping plan our conferences, spreading the word through awareness events, and just being that person who loves bringing us all together. Remember the Baylor meet-up where families got to tour the lab where important TBRS research happens? That was all Kacee.

But it’s not just the big stuff. Kacee’s all about the day-to-day, reaching out to families, making sure we’re all feeling connected and supported. She is always there to celebrate our wins and comfort us during our struggles. She is the president of our TBRS Community, helps coordinate our volunteers, and honestly, just makes things happen.

And talk about going the extra mile—Kacee’s a powerhouse for rallying her community and raising funds. We’re talking over $145,000 raised, all funneling into TBRS research. Every single dollar is a step closer to finding treatments, and that’s what drives her. Kacee’s on a mission, fueled by love and a fierce determination to make life better for families affected by TBRS.

So here’s to Kacee, our chief firestarter, heart-warmer, and path-lighter. Her big heart is at the center of everything we do, keeping our community flames burning bright and drawing us closer together. She has reminded us of the power of coming together, sharing our stories, and working as one toward a future full of hope and breakthroughs.

To Kacee and every one of you who adds your spark to our fire: thank you. It is your warmth, energy, and belief in our cause that keeps our community fire roaring. Together, we’re not just sharing light; we’re igniting change, one family, one event, one breakthrough at a time.

Let’s keep the fire burning, TBRS family. With Kacee leading the way and all of us pitching in, there’s no telling how bright we’ll shine.

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