My Name is Pamela, and I am starting this Blog for other families who are familiar with PKU, short for Phenylketonuria. I have a 10 yr. old son named Iann who has PKU. For those of you that are not familiar with PKU, here is some information.
PKU is an inherited metabolic disorder, in which those with PKU are missing the enzyme Phenylalanine hydroxylase to break down Phenylalanine found in protein. Due to the body being unable to process the Phenylalanine it builds up in the body. Without proper detection after birth, and proper diet, it can cause seizures, can stunt growth and cause irreversible brain damage. The body will usually take Phenylalanine, using that missing enzyme, and convert it into tyrosine. Tyrosine is used in the body to create neurotransmitters, so those with PKU must drink a supplement as part of their daily diet to get the proper nutrients they need. They must be put on a diet for life, which excludes high protein foods such as meat, fish, dairy, cheese, nuts, beans, peanut butter. There diet depends on the level of tolerance, done by blood checks sent to the lab, low protein foods such as fruits veggies, and special ordered low proteins foods, such as breads and pasta. This diet also consists of measuring, or weighing and counting the of Phenylalanine intake even from those foods.
Now let’s start from the beginning, I got pregnant, and I was excited to be having a baby. For 9 months straight I puked, not just in the morning, but, at night too. I just kept reminding myself that this was what I wanted, he will be here soon. When it came time, and he was ready to arrive I was still throwing up and everyone always said the entire pregnancy, that means your gonna have a healthy baby. It was time to go home and, everything was perfect, then you get that call. That call you will always remember, but it’s kind of a blur. I remember the call, the women said she was with the UF hospital, and that they needed me to bring Iann to their facility, so that they could do some blood work on him. They said that they do this test in the hospital, and that his level was higher than normal and that they needed to do a larger test to find out if he had PKU. She might have said a few other things about it, and all I remember hearing was, if you feel yourself getting overwhelmed, you can call me. Well of course, I wasn’t going to call, I was going to call everyone else and FREAK OUT! So that’s what I did, and I remember then, it was a time that well it doesn’t seem to serious, it seems as though it is something they grow out of by a certain age, and that he will be okay.
The moment of truth came, and they took my baby, held him down, missed with a needle, that was almost bigger than him it seemed to me, drew lots of blood. (He was my first at the time) It was pretty heart breaking to say the least, to make him go through that. For what it is worth, I am thankful for the people that did everything they did. Iann was 7 days old when he got put on diet. Everything got explained to us, what to do, how to feed him, and this is a DIET FOR LIFE! He is not going to grow out of this, it’s serious! His life is in my control and in my hands now, but he 10! We have 10 years to talk about, and the future, to think about. He’s gonna take over, eventually be more independent, I may not always be here, so how can I prepare him, how can we prepare our PKUers?
PKU, Before, Now, & Later 