You would never know by looking at this picture that Violet has a rare genetic disorder called PKU (Phenylketonuria). For those of you who don't know what that is, here is a basic definition.
PKU is an inherited genetic disorder in which a baby is born without the ability to breakdown the amino acid phenylalanine. Since the phenylalanine can not be broken down it builds up in the blood causing damages to the brain. Praise God for the Newborn Screening Test which detects PKU within the first week of life. Allowing the baby to start treatment before it's too late.
Luckily, PKU is 100% treatable without any major surgery or scary drugs. It's managed through diet and monitoring blood phe levels. Violet's diet will be limited to low protein foods and phenylalanine free medical formula. As for monitoring the blood phe levels, that is done with a weekly foot prick. It's really not that bad. In fact most of the time when we are giving her the test she is looking at herself in the mirror laughing. God love that girl.
So what are the odds of your child being born with PKU? 1 in 15,000 children born in the US has PKU. Guess we were that ONE!