National PKU Awareness Day: 18 Years After Diagnosis

By Betsie Zenda

PKU has been a part of my daily world for almost half of my life.  Before my daughter was born, I wanted to work with adolescents with eating disorders, so I created a nutrition minor in college.  In my classes, I learned of PKU and essential amino acids, but at best it was a passing knowledge… knowing I had read those words before in a text book.

On January 31, 1994 here in Ohio, we were blessed with a beautiful baby girl. We named her Callie.  In the hospital, they gave us all kinds of papers and did all kinds of test on her including newborn screening.  The nurses and doctors didn’t really explain much about the screening and even told me I probably wouldn’t have to worry about it after we left the hospital.  I was young; I believed them.  We took Callie home two days later and started our lives as parents.

Callie and Dria -- Living with PKU

Callie and I established a nursing pattern, worked on a sleeping pattern, and we changed diaper after diaper.  We took her for her first pediatrician visit armed with a list of questions.  She was gaining weight nicely, grew a whole inch and the doctor answered all my first-time-mom questions patiently with a small glint of humor in her eye.

When I left the pediatrician’s office, I had five new voicemail messages.  The first was just minutes after we left. It was the receptionist from the office of the doctor who saw Callie in the hospital when she was born. The second message was about 20 minutes later stressing how important it was for us to call them as soon as we could.  Her urgency escalated with each call.  The final call was the doctor.  In the 60 seconds it took us to listen to the five messages we received, we went from the happiness of hearing we had a perfect daughter who was growing beautifully to panic. I picked up the phone and called back, trying to remain calm.  After all, our pediatrician had just told us she was doing beautifully.

They told me Callie’s newborn screen was positive for PKU.  Probably the most difficult part came next; the doctor who called with the results had never met a PKU child and had NO idea what to tell me.  I called my pediatrician’s office back, explained the sequence of events and – bless her or karma – she was on the phone with me less than a minute later.  She didn’t have a lot more answers than the hospital doctor, but she had a plan.  A portion of her residency happened to be with a geneticist.  She told me to give her half an hour and she would have more answers.

Half an hour later our phone rang again.  She contacted the geneticist and arranged an appointment.  On February 11, we learned we were the 1 in the statistical data (at that time) 1 in 1500 babies born with PKU.  She was 11 days old… this began our journey.

The first thing they told me was the nursing pattern we’d finally established had to go.  I was heartbroken.  My plan was to go straight from the breast to the cup.  They gave me a hand-held pump so I could closely monitor how much Callie was eating.  I pumped and froze the breast milk hoping that maybe I could get back to giving her some.  Our lives revolved around feeding for the next few months.  I’d give Callie a bottle of PKU formula and breast milk mixed, get her changed and settled, pump, measure the milk into ice cube trays for freezing (I had two I cycled through with covers), label and fill zip lock bags with the little frozen cubes (to accommodate changes in desired protein intake), wash the pump, the empty ice cube tray and lid… and start again.

By six-weeks old, Callie’s phenylalanine (phe) was at trace level, so we were able to significantly up the amount of phe she was getting per day.  Bless our nutritionist for being daring.  I asked her how much phe was in one cup of breast milk, explaining that in 10 minutes I could pump one cup of milk.  Would it be possible to try nursing once a day for five minutes per breast and adjust nursing time based on Callie’s phe levels?  She took that leap with me and let me nurse my baby. I was overjoyed!  I nursed Callie once a day until she was 9 months old.

Around the time we were ready to start solid foods, we were invited to a PKU picnic.  I was thrilled to meet other parents who were dealing with the same thing I was.  I desperately wanted to ask questions about how they handled solid foods.  I was so nervous about how to count phe if she was feeding herself.  My memories of that day are sketchy… but four things stand out.  1. They used measuring cups instead of serving spoons. 2. All the kabobs were the same and had way too many mushrooms for my taste.  3. While the advice “you’ll get used to it” was correct, it didn’t do much to calm my fears about starting solid foods.  4. They were all very excited about a new product that allowed them to make peanut butter.

We introduced apple sauce first.  It was a rather messy process.  As Callie grew, we went through a huge learning curve.  I needed to know exactly what she ate, not just what she was given.  That often meant scraping food off the floor and measuring it out, adjusting the diet record to reflect what she was given and what she ate.  I remember fighting to keep her awake to make sure she had every last drop of her formula.

When we educated family and friends about Callie’s PKU, one question kept popping up… how are you going to feed her enough?  So for her first birthday party, we decided to illustrate the PKU diet for our friends and family.  We went against all the “keep it small, don’t overwhelm the birthday girl” advice.  I made a full buffet of Callie’s favorite low protein foods, served with measuring cups, and put a note card with each dish including the recipe and the amount of phe per serving.  Before the meal, I explained how PKU worked, how much phe Callie was consuming at her birthday dinner, and I challenged our family and friends to keep that in mind as they went through the line and filled their plates.  After the meal when everyone was gathered for cake and ice cream, I asked how everyone did with their phe and was anyone still hungry.  Since then, I haven’t had to answer that question as much!

But they had new questions.  I became pregnant with our second child.  Was this baby going to have PKU too?  Was I going to get amniocentesis to find out? How could I even consider having another child?  Wasn’t I worried?  We explained about recessive genes.  We opted out of an amniocentesis.  After all, we already knew how to manage the diet, and it wasn’t something they could fix by knowing it was there.  There didn’t seem to be a point.

When Callie was two and a half, she became the big sister to a little brother.  Daniel was born in the time of “drive-by deliveries.”  We were home from the hospital less than 24 hours after his birth, but not before a fight with the nurse on duty.  She was insistent that we do his newborn screening before we left the hospital, and I refused, knowing that the test for PKU shouldn’t be done sooner than 24 hours after birth.  She kept telling me I didn’t understand how important it was to test for inborn metabolic disorders.  I kept insisting that the test for PKU wasn’t reliable until the next day.  Luckily our geneticist happened to come to see me and set the nurse straight.  She explained that I did understand how important newborn screening was, and that he wasn’t going to allow me to make it through our visit next week without making sure Dan had been tested.

Daniel does not have PKU, but he has 2 sisters with it.  This often leads to the question, “Oh, so only girls get it?”  No, just in our family.  When I was pregnant with my youngest, Callie wanted “A baby sister with PKU like me and a yellow (or pink, or green, or…) ribbon in her hair.”  When Dria was born, I called my mom and told her to tell Callie that she had gotten at least half her wish, it was a baby girl.  Our insurance company was back to allowing two days in the hospital after birth, so her newborn screening was done there.  We waited on pins and needles for the results.  When our nutritionist called to say Dria’s test was back and positive, I cried.  I remember saying I felt so silly crying because I already knew what to do.  Plus now I could make complete recipes because there would be two children eating the low phe dishes… but I cried anyway.  We took Dria to see the geneticist at about two-weeks old.

I have to admit to being a little jealous of new families beginning PKU journeys now.  The world was a smaller place 19 years ago.  There was no Facebook, the World Wide Web was still new, and the list of available foods was much shorter and more limited.  I’m glad there is so much available to the PKU community, and even more pleased that there is a PKU community.  When I found out about National PKU Awareness Day, I shared it on Facebook with Callie.  (She is away in college, so this is often the fastest way to communicate with her!)  She shared it with friends from PKU Camp.  They are all excited to have their reality recognized.  We all should be.

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