From the moment Maverick Coltrin was born, all signs pointed to a healthy and happy life. But when he stopped eating and started having mild spasms at 6 days old, his worried mom rushed him to Rady Children’s Hospital emergency room. Soon he was having constant seizures and spitting up blood. When multiple tests failed to reveal the cause, his doctors turned to whole genome sequencing in search of answers.
— Kara Coltrin, Maverick’s Mom
Things moved quickly, once the decision to order rapid Whole Genome Sequencing was made.
It took just 39 hours from the time Maverick’s blood sample was delivered to the RCIGM lab for
researchers to call the NICU with a diagnosis and put the newborn on the road to recovery.