PKU (I see you….)

Mom goes into labor.  Mom and Dad go to hospital.  Mom has baby, all are well, birth was a routine one.  Baby comes home.  Baby is more wonderful than either parent could hope.  1 week passes in relative bliss.  Letter from state arrives:  YOUR CHILD’S NEWBORN SCREENING SHOWED EVIDENCE OF A METABOLIC DISORDER KNOWN AS PKU.  A COPY OF THIS LETTER HAS BEEN SENT TO YOUR DOCTOR.  PLEASE CONTACT YOUR DOCTOR IMMEDIATELY.  Pamphlet attatched:  PKU is a metabolic disorder in which the body cannot process a certain protein.  If said protein builds up in the bloodstream SEVERE brain damage will occur.  Not may, WILL. 

No more information.

At this point I must curse the internet and the state of New Jersey for the bounty of information available (the former) and the complete lack of detail and information provided (the latter).  As you can imagine we were frantic.  According to anything I could get my eyes on, time was of the essence.  Each passing week could be the literal difference of IQ points slipping away.  Each month passed untreated could be destructive, each year catastrophic.   Our doctor was instructed to test again via the state’s lab (I was not pleased).  1 more week went by and the levels were confirmed.  We were referred to a local hospital for genetic counseling.

Fortunately this is where the story gets better;  the staff at the hospital were (and have been) fantastic.  As it turns out, she has the most benign version of this disorder which will require monitoring, but little if any dietary treatment.  We had a scare recently as her levels spiked shortly after she started on solid foods.  The second test showed things back to normal.

Leila, if you choose to be a vegetarian, I am behind you 100%.  Now that you have the option however, I look forward to sharing your first hamburger with you 🙂


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