Parenting PKU

Right now you maybe looking for someone to tell you that it will be okay, and it will be.  Or maybe you are looking for a picture of what a day in the life of a PKU baby/child is like. Or maybe you are just curious as to how someone else is handling it or how they handled it when they found out. Well perhaps you will find an answer here or maybe not but either way please feel free to comment or ask me questions.  *            *           *   That moment they told us he had a condition with a big long name that I couldn't even pronounce I felt something inside of me break, I don't mean to sound melodramatic but maybe it was everything else that was going on but when they said he has  Phenylketonuria I felt my world freeze. I came home and let all that emotion pour out of me, I cried and I worried and I didn't even really understand what I was worrying about because I barely heard or understood what they ...

As 2016 is coming to a close I am very much looking forward to the very exciting things that the new year will bring our family. One of the big things we are looking forward to is Lucas doing a drug trail with a medication called KUVAN. What is KUVAN & why should we try it? (much of this is copied from the http://www.kuvan.com website)  This medication trial offers us the chance to see if Lucas is a responder to KUVAN. KUVAN is a form of the cofactor (or helper) BH4 that already naturally exists in your body. In people who respond to treatment with KUVAN, it works in the body just like BH4 does to help stimulate residual PAH enzyme activity to convert Phe to tyrosine and lower blood Phe levels. KUVAN has been prescribed along with a low–Phe diet to lower blood Phe levels in many people with PKU of all ages and types In many people with PKU, KUVAN increases the activity of the PAH enzyme that isn’t working properly. In other words, the PAH enzyme that isn’t working “wakes up” a...