Sydney's story - PKU

The date was Wednesday Feb 1, 2006.  I was trying to settle into my new routine, having only been home with Sydney for a couple of days when I received a call from CHEO (The Children’s Hospital of Eastern Ontario).  The woman who had this most difficult task was Erica Langley, Metabolic Dietician. I was confused as to why they would be calling me, I knew that Sydney was a perfectly healthy 7lb 12oz beautiful baby girl…why am I getting a call asking if I can bring her back in for tests?  This is when my heart started with that sinking feeling.  What kind of test were they talking about? PKU (pheynlketonuria)…what is that? I know I have heard about it but why do I know it…

Erica went on to explain that the heel prick test that is administered by the nurses to all newborns may show a result that needs to be repeated and re-checked.  I specifically remember the nurse doing this test; both my husband and I were there as the nurse did the heel prick. As I am sitting trying to make sense of all this I do a quick search on the Internet for PKU.  That sinking feeling getting more prominent, I read a brief overview of what PKU is and I realize that this is a “genetic disorder” that if left untreated can cause “severe mental retardation.”  I was worried, I tried to comfort myself by replaying what Erica said on the phone and that sometimes the test results are incorrect and to be absolutely sure, another test would be the key to knowing. 

I needed to call my husband Greg.  I know that the mere mention of this as a possibility would be devastating and difficult for him to handle.  I tried as best as I could to be optimistic.  We were to also expect that if the results were positive for PKU we would have to have Sydney admitted to the hospital to conduct further tests to determine which type of PKU and to start treatment of her diet.

The test result came back positive for PKU.  Sydney would have to have a specialized diet for the rest of her life.  Sydney’s older sister Amelia (5 years old) was going to get to have yet another change in routine while Mom and Dad stayed at the hospital with Sydney.  I was breastfeeding and could no longer continue until the doctors knew what level of Phe (phenylalanine) Sydney could tolerate.  Not only was I recovering from a C-section less than ten days ago but I now had to stop nursing and pump, my state of mind was numb.  They only allowed one parent to stay and because I had to pump I got the cot, my husband was not happy to leave but knew it was necessary. 

It was a very difficult 24 hour period.  Seeing how this little tiny baby could handle having needles and cold stethoscopes and still fall back to sleep made us realize that this could be managed, it would be o.k. and she could still have a full and vibrant life ahead of her…just without the double cheese pizza and hamburgers.

The learning curve for all of this information was unbelievable.  We had awesome support from the staff at CHEO.  Dr. Pranesh Chakraborty, Metabolic Geneticist and Erica Langley, Metabolic Dietician were both sensitive and optimistic in outlining what this would mean for Sydney and our family.  Sydney was the first baby born in 2 1/2 years in Ottawa to be diagnosed with classical PKU.  

Sydney is turning one in a couple of weeks and despite the weekly blood test and endless calculations for the daily food requirements, she is a happy and vibrant little girl.  We look forward to the challenges that are ahead because we have the confidence in knowing that there is support and knowledge that makes this easier to manage for the future.