Welcome to my son’s journey through life being diagnosed with PKU!
Right now he is 10 months old. I know I know, I wish I would have started this blog a lot sooner…like when he was born and we found out the news. The news being that he was diagnosed with Phenylketonuria, also known as, PKU a week after being born.
Definition of PKU: Phenylketonuria is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.
Thanks to the Newborn Screening Test, we took all necessary actions as soon as possible and Ezra was a healthy baby. Now I won’t go into detail on the thoughts going through my mind when finding out he has PKU…you can read all about those details here. Needless to say I was scared, lost, confused, etc. But, thanks to our huge support system, we have tackled this diagnosis so much easier.
I have created this blog not only to document Ezra’s life and show that PKU is not a barrier in life, but to also give parents that received the news like we did some relief when they read our posts.
I hope you like reading my posts and going on Ezra’s journey with us as he grows older!