Phenylketonuria (PKU)

Growing up, there were two things about myself that I didn't like to discuss.  My metabolic disorder (PKU) and my crooked pinkies.  They made me different and I certainly didn't like it.  However, as my relationship with the Lord has strengthened over the years, I have learned to be content with who God made me to be.  My crooked pinkies I now consider cute and when Kiah inherited them at birth, it was the most precious thing I had ever seen.  PKU is just part of who I am and I've become very grateful that God put me with parents that cared enough about me to manage this very special diet.

Since every baby is tested for PKU at birth by pricking the heel, I feel like it's definitely worthy to tell people what it is, and should your baby test positive for it, it's not the worst thing in the world--although I definitely thought differently at times. 

Protein is made up of 21 amino acids.  One of those amino acids are called Phenylalinine (or Phe for short).  When protein is digested, Phe is broken down by an enzyme that converts it into something healthy--called Tyrosine.  If Phe is not broken down, it builds up in the body and causes brain damage.  Babies who test positive for PKU are missing the enzyme that breaks Phe down to Tyrosine.  So to avoid this Phe build-up and eventual brain damage, protein has to be avoided altogether.  This means no meat, no dairy, no breads, no pastas, etc.  Basically, leaving fruits and vegetables.  To obtain the other 20 amino acids needed for normal growth and development, a formula is prescribed from birth.  It's a protein supplement, essentially. 

As you can imagine, school was difficult growing up.  Lunch time, in particular.  My peer pressure wasn't so much placed on me by my friends..but pressure from myself in not wanting to appear different.  When other people my age were tempted by alcohol and partying..my temptation was pizza, peanut butter, and big macs.  I definitely messed up a lot but was quickly disciplined for it.  My brain depended on it. 

Today's blog won't reach or appeal to many people.  PKU is rare, but it does happen.  However, in this county alone, there are 5 people who have this..and if you live in this small town, you know that this number is high!  If you're pregnant or plan on becoming pregnant, this is worth knowing about--just in case.  To find out more, you can check out these sites: http://en.wikipedia.org/wiki/Phenylketonuria  OR  http://www.pku.com/