Manage episode 326864686 series 2975224
In this hallmark episode, we discuss a condition that has only been documented in 70 cases worldwide. Dr. Amelle Shilligton is a clinical geneticist at Cincinnati Children's Hospital Medical Center. In this conversation, Ashley and Jacob Wiley share the story of how they rushed their 15 month old daughter Aislynn to that hospital, and Dr. Shillington explains how she eventually solved the mystery of Aislynn's diagnosis of TANGO2-related metabolic encephalopathy and arrhythmias. The rare genetic disorder is caused by variants in the TANGO2 gene and those with it can experience episodes of acute illness called metabolic crises.