February 1, 1996 was a cold gray winter day in Raleigh, North Carolina. The threat of more snow or sleet was eminent for tonight. I was traveling to the airport around lunch to help my boss jump start her car when I received a page from my wife. Ellen never pages me. I immediately called her from the car. I was apprehensive about calling because I had a sick feeling that something was wrong with Jeffrey. We brought Jeffrey home from the hospital one week ago and Ellen had her hands full with Jeffrey and his 21 month-old brother Patrick. I prayed as I dialed that Ellen just needed some diapers or wipes. When she answered I knew there was something wrong. She was shaken and unsettled. My god what was wrong! Jeffrey had a slight heart murmur right after birth but undetectable afterwards. Was there complications due to that? Ellen said that our pediatrician had called and that we needed to take Jeffrey immediately to UNC-CH Hospital. Jeffrey may have phenylketonuria (PKU).
PKU, what is that I thought to myself Ellen remembered it vaguely from a class in nursing school. I rushed home upset at myself for not knowing what PKU was. By the time I got home Ellen had gotten to her nursing books and we started to learn about the metabolic disorder known as phenylketonuria or PKU. The literature answered some of our questions immediately, but we had many more. PKU was rare: 1 in I0, 000 or 1 in 20,000 births depending on what you read. Why us? Special diet for life? No protein? Why Jeffrey? This beautiful little baby, my god is he going to be okay? We had two hours to wait before we made the drive to Chapel Hill. After reading the PKU literature I sat down and stared out the window. Neither my wife nor I spoke for a very long time. We were stunned, sad, and angry. I felt numb and sick. My little boy had a "disorder." What a horrible word to be thrust upon an eight-day old child.
Finally, we made it to Chapel Hill. Jeffrey was admitted to the Pediatric emergency room and there we were met by two nurses and two doctors and a genetic counselor. All of us were crammed into this little examining room with our precious baby boy. The news: There was a great possibility that Jeffrey had PKU. His results had come back from the state labs and his phenylalanine level was elevated. They needed to do further testing and get his protein level down quickly so that his brain would not be affected. He would have to be admitted and his phenylalanine level would need to decrease using a special formula. I remember trying to keep my composure in front of all those people. Why? These people have seen the emotions of parents first finding out that their child has PKU, but the crying would have to wait.
After some more counseling and getting questions answered, we settled into a hospital room on the floor. Our grief was tempered by the fact that we shared a room with a beautiful little girl who had IV tubes in both her belly and nose. Things could be worse for Jeffrey.
Although officially only one parent was allowed to stay with Jeffrey overnight in the hospital room, the nurses made an exception for us. We got as comfortable as possible in two recliner chairs and tried to sleep. At 2 AM on Friday morning with freezing rain pelting the window and the night nurses buzzing at their station, Jeffrey woke up to eat. I told Ellen to continue sleeping that I would feed him. I got a bottle from the nurse and started to feed him. Suddenly my tears started to flow as freely and easily as the special formula flowed into Jeffrey's stomach.
Friday was filled with "knowledge transfers" from the health professionals to the newest PKU family in North Carolina. The PKU staff, which includes a physician nutritionist, a physician specializing in biochemical genetics, and a social worker specializing in genetic counseling, was having a busy week because another child had been diagnosed with PKU. The little girl had been diagnosed a day before Jeffrey. The family was staying at the Ronald McDonald House in Chapel Hill because they were 2 hours away. At least we could soon go home.
Jeffrey can only tolerate very small quantities of protein. A protein contains approximately 20 amino acids one of which is phenylalanine (phe). He can't break down phe, so it becomes toxic in his system. He will need to drink a special formula for life that gives him all of the protein amino acids except phe. He will also be on a strict diet for life that is monitored and adjusted constantly by our nutritionist. We will need to do twice a week heel sticks for the first year to send the blood samples to the state lab so his "levels" can be monitored. We need to buy a gram scale to measure all food and the special formula will be provided by the state. It was almost too much to take in but the comforting reality was Jeffrey was going to be fine.
Six Months Later
Jeffrey is a happy, healthy baby boy. He just had his six-month check up and is growing on schedule. He has also reached all of the milestones at or before our first son did. He just started eating applesauce and rice cereal. Mom and Dad are doing fine as well. The disorder has brought us even closer together. Our challenge is to make Jeffrey's childhood experience as normal as possible. I still get a little sad when I look into the future to the time when I want to share a hot dog with my boys at a ball game or celebrate a holiday with a mouth-watering dinner. Our society places so much emphasis on food and only when you or someone you are close to canít eat those foods do you notice. We are slightly apprehensive about the diet and introducing more foods simply because it is an unknown.
We were reassured two months ago when we traveled to Wilmington, North Carolina for a PKU support group picnic. There we met PKU children from four months, our Jeffrey, to 15 years. The more experienced mothers had prepared PKU recipes all of which were tasteful. It was also great to talk to and observe some of the older PKU children. They were all normal healthy children. The picnic lifted our spirits as we were welcomed warmly into the PKU community.
The first six months have been much more difficult on my wife
because she is the primary caregiver. Now that food is being introduced,
it is up to her to get all of the food and formula in during the
day. She has become a student of PKU, studying recipes and talking
to other PKU mothers. I am so proud of her and the way she has
reacted positively to this challenge. Right now, PKU may be a
small inconvenience but the bright smile and laughter of our son
is all we see.