What is PKU? Good question

PKU stands for phenylketonuria. Don't ask me to pronounce it cause I can't. PKU,for short, is a rare genetic condition that babies are born with and will have their entire life. Adam and I both had a recessive gene and had a 25% chance of having a PKU baby. No this is not something we knew nor did any of our family know anyone who had PKU in the past. So yes we have that same chance the next go round.

Breeze has what is called the classic case pku. She has an enzyme that is deficient and does not break down the amino acid phenylalanine (phe, for short) to another amino acid, tyrosine. Failure of this conversion results in a toxic build up of phe in her system. The deficiency in every child is different and so treatment is individualized. We have a nutritionist that I work closely with on a weekly basis. Once a week I take Breeze to the children's hospital and get her blood drawn from her heel, which by the way does not even phase her anymore.Then we go upstairs and get weighed. Two days later Casey, the nutritionist will call and give me Breeze's levels. One for her phe and another for the tyrosine. The goal is to have her phe levels be between a 2-6. A normal persons levels are at zero. Her phe levels at the time of her newborn screening they were an eight, a eight days later they were 34! The goal was to get her levels back into range as quickly as possible, within the first month of life. If levels are in check in that time then there is no brain damage that will occur. She was temporarily taken off breast feeding and put strictly on a phe free formula called periflex. This was so difficult for me. Adam gave Breeze her first bottle that day and I cried and prayed she would come back to my breast when she was allowed. She took to the bottle with out any problems and I pumped every time she ate to keep my milk supply up. Her levels dropped beautifully and with in a week and a half I was able to start nursing again. She came back to me with gusto! It still makes me sappy just thinking about it. So from then on we give her a prescribed amount of formula and then I breast feed after that with in a 24 hour time segment. We go from 1pm -1pm. PKU is not something she will grow out of. The amount of protein she is allowed to have is minimal, but there are lots of yummy options and alternative foods out there. Plus Mom and Memaw love to cook. She will have to drink a special formula her whole life in order for her to get all the other proteins her body needs as well as nutrients.  The risk for brain damage subsides as she gets older and more developed. But if her levels do get high when she is older, high being a 9 or something, it will be noticeable in her behavior. She could exhibit a number of behavior problems and be fuzzy headed. She won't feel good unless she sticks to her diet. Sounds kinda crazy but we have adjusted well. We will see how things go once we start introducing solids...I will keep you posted.
Any questions?