By How Newborn Screening Saved Baby Rebecca
Rebecca was born on Dec. 4, 2005, and by all appearances, she looked and behaved like a normal newborn. After a two-day hospital stay and all the necessary newborn screenings, Rebecca and her parents went home. However, shortly after arriving home, the family received a phone call from the state informing them that one of Rebecca’s tests came back abnormal. After being told that they needed to get Rebecca to a pediatrician immediately to address a possible MCAD deficiency, her parents raced her to the doctor.
Upon examining Rebecca, her pediatrician informed her family that she had a rare disorder that would require a second newborn screening and an appointment with a genetic specialist. In the end, it was confirmed that Rebecca did indeed have a MCAD deficiency, which prevents her body from converting certain fats to energy. However, because the condition was caught early, she was able to receive the necessary treatment to help keep her healthy. Today, Rebecca is a thriving child who has endured many hospitalizations over the years because of her condition.
Nevertheless, she has amassed a great support system made up of caring medical staff, friends, and family.
This September is a time to celebrate that advances that have been made in the name of newborn screening and to continue educating people about the public program. What type of infant screenings does your hospital or office do, if any? Does your hospital or office take part in Newborn Screening Awareness Month?
