Sunday, January 22, 2012


...stands for Phenylketonuria.  (Yeah, try and say that three times fast!)  Because Ms. McDavid was such a phenomenal AP Biology teacher in high school, when we got the call on Friday from Vanderbilt Children's Hospital saying that Ray's newborn screening for PKU came back abnormal, I was able to recall a few things.  Genetic disorder...missing an enzyme that processes phenylalanine...warnings on yogurt, gum, Diet Coke...but, that's about it.

This sweet-voiced woman on the other end of the phone said that we needed to retest Ray for PKU and could we come in at 4pm?  We'd get the results back that day.  After a quick feeding and with my pulses racing, Rich, my mother and I got the diaper bag packed (which we subsequently forgot in our haste), snuggled Ray in his carrier and got on the road to the Children's Hospital.

My mind was racing and I was freaking out.  Our midwife said that the heel stick test she did  sometimes needed to be redone, so wasn't that just the case here?  My Mom assured me there was nothing to worry about.

Upon arriving, I'm immediately feeling resentful because a hospital environment is exactly what I didn't want for Ray.  I'm irrationally envisioning germs everywhere, dancing around my newborn. 

We check in and are met with a triage nurse that weighs Ray, takes his measurements, etc.  Even though she's nice as can be, I'm immediately annoyed.  She starts telling us that they work with PKU families all the time and she would be seeing a lot of us.  Then she starts oozing compliments about the PKU specialist, Natalie-- how sweet she is, how she's a new Mom mind just can't wrap around what she was saying.  I mean, weren't we just here to retest?!  Ray didn't have this for sure, right?

From there, we go into an examining room and Natalie comes in.  Cherubic-faced with long dark hair and beautiful blue eyes, she calmly starts to walk us through what PKU is, the metabolic biology of it all, what happens if left untreated, pathways for treatment, etc.  Again, like the triage nurse, she's talking in affirmative, telling us about support groups and a local Foundation that was formed several years ago by PKU parents.  All I could think is, "WTF?!  This is all happening so fast!  My son is healthy.  Just look at him!"

Babies with PKU cannot process phenylalanine (we'll call it phe for short), thus turning it into tyrosine.  A normal level of phe in you and I would be 1 and a normal level of tyrosine would also be 1.  For individuals with PKU, their levels range from 2-6 for a mild case and 6+ for a more severe or "classic" case.  Turns out, the heel stick test they received yielded a level of 2.7 of phe in Ray's blood.  If left untreated, the high levels of phe cause brain damage and lead to mental retardation.  (For more information on PKU, see this comprehensive March of Dimes article.)   

When we ask Natalie if the results could be wrong, she says she rarely sees a false positive.  I'm dumbfounded, completely overwhelmed.  I understand that this is a treatable disease through a special diet, but how can this be?!  PKU occurs in about 1 in 25,000 births, so how is it Rich and I could have passed this on?  Turns out both parents have to be carriers and off-spring have a 1 in 4 chance of inheriting the disorder.

Natalie asks if we have questions, but I can't process.  Dietitians are brought in and introduce themselves with big, toothy smiles, saying "We'll be seeing a lot of you"...but I'm thinking, "I don't want to see a lot of you!"  A bright neon sign is flashing through my mind-- SPECIAL NEEDS---over and over again.  We have a child with special needs?  How can this be?  What about when he goes to daycare?  What about school?  What about his teenage years and into adulthood?  

They need to take blood from his tiny arm, so Rich goes with Natalie to have that done while I stay in the examining room with my Mom, crying my eyes out.  Turns out they tried one arm only to have to draw blood from the other, so he came back with two tiny band-aids on both arms.  When they come back, I try my best to keep it together.  Ray must know that I'm having a really hard time, so he provides some comic relief by farting loudly as if on cue several times. 

Right before leaving, Natalie comes back to tell us that the machine that processes the blood samples only processes ONE sample at a time and it takes 2.5 to 3 hours.  Unfortunately, the machine is acting up and while we were initially told we would know the results that evening,  it looked like we wouldn't know until the next day.

That night, I'm spent.  Rich is too.  I have a pounding headache that wouldn't go away.  My eyes are swollen from so much crying.  We are still processing.  We alert friends and family as to what's going on and immediately, prayers are unleashed into the Universe. 

The next morning, we try to remain present and in the moment while awaiting the call from Vanderbilt.  We don't hear from Natalie until about 10:30am only to get news that the machine is still acting up and we probably won't hear word until Monday.  Sigh.  How is it in this age of technology that test results can take 48 to 72 hours to process when I can mail a letter and have it get to its destination in less time?!

Fully expecting to hear from Natalie on Monday, on Sunday evening we're surprised to see the Vanderbilt number show up on my phone.  With my heart racing, we put the call on speaker and to our cascading relief, the results came back NORMAL!  OMG.  I immediately cry in relief and a tangible shift of energy radiates throughout the room....ahhhhh.  Wow.  I guess we're one of the rare cases of a false positive!  We were instructed to come back to do blood work for a third time just to be sure, but we're feeling extremely positive that sweet, brave baby Ray does NOT have PKU.

All of this has left us light, jubilant and incredibly thankful.  I know that if he did have a positive reading for PKU that Rich and I are uniquely equipped to handle such a challenge, to embrace it, learn from it and do whatever we would need to do for the health of our son.  However, we are sooooo grateful that this is one challenge that we don't have to face.  This roller coaster of an experience has only brought us closer together as a family and has reconnected us to the power of prayer and the undying support of our friends and family.

To everyone that prayed for us, THANK YOU.  We felt your prayers lifting us up these past 48 hours.  Your thoughtfulness, compassion and love means more to us than you will ever know.   

1 comment:

  1. I wish I could give you a BIG BIG HUG right now! I'm glad that it was a false positive. Day 2 after River was born he had a choking/stop breathing episode and I found myself on my knees in front of everyone balling. Pamela came in and wrapped her arms around me, rubbed my back, and said, "Welcome to Motherhood." Those tiny little creatures steal our hearts in the matter of moments. Keep us updated! You are an amazing mother already. Welcome to Motherhood!! Hugs and Kisses to that Sweet Baby Ray!