Two of my children have isovaleric acidemia. My daughter’s condition was caught by routine newborn screening. She is living a healthy life. My son’s wasn’t. He is severely disabled. AMA.
Two of my kids have a metabolic disorder called isovaleric acidemia (IVA). IVA is a disorder in which one’s body is unable to break down the amino acid leucine. Leucine, a byproduct of protein, produces isovaleric acid that is toxic to the body. If untreated, IVA can cause irreversible brain damage or even death.
Newborn screening, a routine public health program in the US, tests for many inherited disorders including IVA. However, when my son, Stephen, was born our state was not yet testing for IVA so we didn’t find out anything was wrong until he was three years old. My daughter, Caroline, was born five years later and our state had since added IVA to their newborn screening panel. Her condition was detected quickly allowing us to begin immediate treatment. We’re able to manage her disorder, so Caroline is living a healthy life. Stephen is now 16 and Caroline is 12.
Within the first few days after birth, newborn baby’s heel is pricked to draw a little bit of blood which is then most likely tested at a public health laboratory for a panel of treatable conditions. Most parents probably never even ask or think about it. Stephen and Caroline are a constant reminder of how valuable this program is. Ask me anything about Stephen, Caroline, IVA and newborn screening!
PROOF: This is my story, written by me.
EDIT: Thanks everyone for your questions! I have to go, but I'll keep checking back to answer as many questions as I can!