National PKU Month- The Beginning

Since May is National PKU month, I thought I'd share some info.  Not much new has been happening with PKU since Lily's been diagnosed.  There have been several attempts at medicine, new low protein foods, and devices to check phe levels at home.  However, some of the medical advances are stuck in FDA approval right now.  So, I'll share some previous posts!

Monday, October 4, 2010

The Beginning

     I've finally started blogging!  My Dad has been on me for months.  Well Dad, I finally found enough time and courage. I guess, I'll start by talking about myself, my family, and why I decided to put it all out there.

I have 3 kids- Andrew 10 years, Chloe 8 years, and Lily 1 year.  My husband, Ryan, and I have been married for 12 years, but trust me it seems much longer...at this point, he'd agree with me!

     This all starts with the birth of my daughter Lily, last October.  A few days after Lily was born, we received a call from University of Illinois Chicago Hospital.  This was really odd, since Lily was born no where near Chicago.  As the call went on, I almost felt as though I was actually floating above my body.  It was so surreal.  Actually, I seemed pretty calm while on the phone, but in the hours afterward, I broke down.
     On the line was a genetic counselor and she was informing me about the blood test that was given to Lily after her first 24 hours.  Apparently, they test for genetic anomalies and one of Lily's tests came back with concerns.  The counselor could not conclusively diagnose Lily, but it appeared as though she may have Phenylketonuria  aka PKU.  My first thoughts were "What the hell is Phenylketonuria?" and "How do you pronounce it?"
     I half listened to the counselor and basically got that we needed to go into Chicago tomorrow for more tests.  My husband had many questions, but I couldn't answer them.  For once, I was unprepared and had no plan.  I then made phone calls to my parents.  When my mom answered the phone, the tears began to fall and never truly stopped for months!  While I was telling the family, Ryan was researching.
     He had heard of PKU because his sister was diagnosed with hyperphenylalaninemia aka hyperphe.  After setting up a sitter for the older kids, so we could go to Chicago, Ryan decided to share what he had found.  It was then that I decided I hated the internet!  If only the information was filtered so only good news could be found.  I mean seriously, what parent wants to read that their child could develop brain damage or that a low protein diet can be difficult to manage?   I wanted to read that my daughter would be like any other healthy little girl and that her life would not be any different.
     But no.  Ryan read the facts and knew that he needed to share.  He really didn't want to see his wife break down at UIC because she didn't have a plan.  I wish that he had heard the phrase "ignorance is bliss."  After hearing the facts, I couldn't sleep.  All I though about was the unknown and what would happen to my beautiful little Lily.