Elisa is a mother, blogger, singer, and ardent Phenylketonuria (PKU) awareness advocate. PKU is an inherited disorder which can cause intellectual disability if left untreated. Treatment for PKU involves following a strict diet which can prevent serious health issues. Elisa was diagnosed with PKU as a baby through newborn screening. Here is her story:
I was diagnosed as a baby, so I have the story from my mom. I was a little over a week old when she got a call from Dr. Scott, who would be my geneticist from then on. She was shocked that there was anything wrong with her seemingly perfect baby. She remembers crying and being very discouraged at first. But after meeting with the doctor and finding out how bright the outlook would be if we followed the diet, she was very encouraged. In that first meeting Dr. Scott told my parents, “Start saving for college.”
Newborn screening is a routine public health service for the 4 million babies born in the United States every year. Newborn screening tests are essentially harmless. They are typically performed on a few drops of blood from the baby’s heel. The conditions included on newborn screening panels are ones for which early detection and treatment can prevent death or severe disability, and give children the chance to reach their full potential.
Disorders such as PKU, Galactosemia, and Cystic Fibrosis are included in newborn screening. Newborns are also tested for hearing loss. A small microphone or earphone is used to check how the baby responds to sound. Lastly, there is a skin test that measures the level of oxygen in the blood, which can tell if a baby has a congenital heart defect. Newborn screening is not a diagnostic test, however, it can lead to definitive follow-up tests, including genetic testing, which can determine if a condition is truly present.
Because September is Newborn Screening Awareness month, it is a great time time to familiarize oneself with this meaningful preventative testing. To learn more about newborn screening, and for a list of conditions that are screened for in your state, please visit Baby’s First Test and Save Babies Through Screening Foundation. You can learn more about Elisa and her passion for PKU advocacy by visiting her blog Me, You and PKU.