1q21.1 Microduplication
Trey Vaught’s story is about courage and support, an answered prayer and perfect timing – and how all these things together allowed the Vaught family to feel at ease while Trey was undergoing life-saving treatment at Children’s of Alabama. Trey was born on January 12, 2015, at Princeton Baptist Medical Center in Birmingham. But he was immediately transported to Children’s when doctors detected meconium aspiration (an inflammation of the lungs) when the mother’s water bag broke before delivery. “I was terrified,” Asha Vaught, Trey’s mother said. “It was then that I knew my baby boy, who had a strong heartbeat days earlier, might not be okay.” Trey was diagnosed with a rare genetic disorder called 1q21.1 microduplication chromosome that can cause developmental delays, speech impediment, abnormally large head size and ophthalmologic eye-related findings. Trey was put on a heart-lung bypass called extracorporeal membrane oxygenation (ECMO) for six days. He was able to go home with his parents 35 days after they first learned about his meconium aspiration. Dr. Carl “Tim” Coghill, NICU medical director at Children’s of Alabama and professor of pediatrics at the University of Alabama at Birmingham (UAB), said that Trey’s meconium aspiration was one of the worst he has seen in his 25 years of working at Children’s. During the time Trey was overcoming his illness, the Vaught family stayed by his side while he was in NICU undergoing treatments. “Being across the street from our critically ill child was amazing,” Asha said. “Our social worker, Quashandia Westbrook, was helpful with supporting us through the hospital stay.” The EMCO machine provided Trey’s blood with oxygen while allowing the heart and lungs to rest and heal. Most patients requiring EMCO are newborns who have difficulty with transitioning to breathing air after birth from inflammation or infection. Today Trey is a happy and healthy 6 month old who is involved in occupational and physical therapy to overcome his illness. The Vaught family will continue to watch his breathing and follow-up with necessary appointments. Asha says her family is so relieved to have such an excellent hospital so close to home. “We are so thankful that Dr. Coghill was on call for our specific delivering hospital that night,” Asha said. “He was straight forward, honest and compassionate with our family.”
