Tatton Brown Rahman Syndrome Community
Jill Kiernan’s daughter, Aevary, was one of the first thirteen people in the world to be diagnosed with TBRS. Feeling lost and alone, Jill turned to social media and created the Tatton Brown Rahman Syndrome Community to find other people affected by TBRS and learn more about what the community was facing.
TBRS is a rare genetic disease caused by pathogenic variants in the DNMT3A gene. Individuals with TBRS have overgrowth—typically, tall stature, increased weight, and large head circumference (also known as macrocephaly)—mild to severe intellectual disability, and subtle but distinctive facial characteristics.
As part of the Rare as One Network, the Tatton Brown Rahman Syndrome Community aims to collaborate with other rare disease communities and leverage educational opportunities offered to advance their goal of amplifying their members’ voices and identifying treatments and cures for Tatton Brown Rahman Syndrome.