The TBRS Community

In March of this year, Callan was diagnosed with an extremely rare genetic disease called Tatton Brown Rahman Syndrome (TBRS). A chance event in his DNA formation causing pathogenic variants in the DNMT3A gene mean that Callan is 1 of only 450 people who have ever been diagnosed with this condition.

Key symptoms of TBRS include; overgrowth, with typically tall stature, mild to severe intellectual disability, low muscle tone, hypermobility, orthopedic problems, seizures, and cardiac defects. Diagnosis has been bittersweet but monumental in that we can better understand Callan’s challenges and one day explain these to him, and crucially he can access further testing from relevant medical fields such as cardiology, which would have been unknown to us had it not been for this diagnosis.

The rarity of TBRS means that medical professionals are very much learning with us, which is why we have decided to run the Waterside Half Marathon on 7th September in hopes to raise awareness as well as funds for the ‘TBRS Community’, a charity dedicated to vital research and support for all families affected by TBRS.

We would love and appreciate if you could support in any way that you can. We are by no means runners so this is a big challenge in itself!

Thanks,

Mal, Michelle and Callan