Introduction

Hello & thank you for taking the time to find and start reading this blog about our journey as we discover what parenting an infant with PKU means for us. Now most people who we talk to (including a fair amount of medical professionals) have no idea what PKU is or what it means to have this condition. So let's start by trying to explain PKU to those who don't know what this condition is (just like Jeff and I the day the doctor told us that Lucas had it).

The following is information provided by http://www.canpku.org/ which is the Canadian PKU site.

PKU is short for phenylketonuria (pronounced fen'-il-kee'-to-nu'-ria) PKU is a rare, inherited metabolic disease that results in mental retardation and other neurological problems when treatment is not started within the first few weeks of life. (Lucas' condition was caught within the first days of his life and treatment was started the same day)

People with PKU are missing an enzyme to break down protein in food, specifically one aminio acid. This amino acid is called phenylalanine, often called PHE (pronounced fee) Since this amino acid cannot be completely processed, it builds up in the blood and excess amounts cross the blood-brain barrier. When excess amounts build up, brain damage and other neurological problems result.

Most children and adults with PKU must follow a special diet. The PKU diet involves strictly controlling the intake of natural protein (which contains phenylalanine), drinking a synthetic phenylalanine-free protein formula (known as medical food) and eating special low-protein food. The synthetic formula and special low-protein foods are expensive.

Is it possible to prevent the symptoms? 

YES, fortunately, if the child is diagnosed early (between 7 and 10 days after birth) and treatment is started right away mental retardation can be prevented. There is a screening program for PKU available for Canadian children, which takes place shortly after birth (newborn screening). All children with PKU have access to treatment. To maintain proper health and development the blood PHE level must be kept in good control throughout the child's life 

How is PKU treated?

• Reduce phenylalanine intake through low PHE diet

• Provide necessary alternative to natural protein through medical formula 

• Periodic monitoring of blood PHE levels

How is the PKU Diet? 

The diet for the most severe form of PKU eliminates all of the very high protein foods since all protein contains phenylalanine. This means that all concentrated sources of protein must be eliminated from the diet in order to limit the amount of phenylalanine. The diet does not allow consumption of meat, fish, poultry, milk, eggs, cheese, ice cream, legumes, nuts, or many products containing regular flour.
A synthetic formula is used as a nutritional substitute for the eliminated foods. This formula is very expensive.
The diet is supplemented with special low protein foods and weighed or measured amounts of fruits, vegetables and some grain products. These foods are allowed in quantities that suit the individual child's tolerance for phenylalanine 

So there is the breakdown of what PKU is and what it means to people who have it as far as diet goes. I plan on using this blog to share our personal journey with Lucas and his PKU as he grows. I will share updates and share my perspective as we travel this path.