Rare Disease Day is an annual event on February 28 to bring awareness to the many rare diseases physicians and researchers know little to nothing about. TANGO2, for instance, is a rare genetic disorder that can cause episodes of metabolic crises and heart arrhythmia, and even sudden death.
This disorder brought two families together to advocate for awareness. Kaitlyn Fryar lost her son Hudson to the disorder at the age of 5 and has another child who now also has a diagnosis. Similarly, Cesar Martinez’s 17-year-old son John has suffered with the disorder for most of his life. He received a diagnosis in just December of 2022.
“The way it presents is very different between patients,” said Lina Ghaloul-Gonzalez, MD, from the Genetic and Genomic Medicine division in the Department of Pediatrics.
Gonzalez is leading the research into TANGO2 along with Fryar’s doctor in Arkansas. She says sharing information furthers research quickly and helps develop therapies faster too.
The TANGO2Research foundation’s mission is to fund, coordinate and guide scientific research that leads to a better understanding of how TANGO2 mutations affect people at the most basic cellular and biochemical pathway levels.