Peyton is participating in the TBRS exercise challenge for the 3rd time. She has come a long way since our first exercise challenge... Our goal then was to get around the block x1. These days, she is able to walk a 2.5km forest loop trail x1/week. Peyton still prefers to be sedentary, and it requires a lot of motivation to move her body.

This exercise challenge was created  5 years ago by a woman diagnosed with TBRS herself, Ashley H. 🤍

Tatton Brown Rahman Syndrome (TBRS) is a rare genetic disease caused by pathogenic variants (previously called mutations) in the DNMT3A gene and for that reason it is also called DNMT3A Overgrowth Syndrome.

DNMT3A is important for normal muscle function. Many individuals who are diagnosed have low muscle tone (hypotonia), orthopedic problems, poor balance and coordination, and joint hyper-mobility. Peyton is affected by all of the above. 

These funds will be used to 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.

We know times are tough right now, so help if you can. Thank you in advance!