No bread, no dairy, no meat: Living with PKU means eating lots of vegetables, fruits

Ezekiel Sanford, 5, must eat a carefully monitored diet to avoid complications from phenylketonuria. (PHOTOS BY SUSAN KAHN)

Ezekiel Sanford, 5, must eat a carefully monitored diet to avoid complications from phenylketonuria. (PHOTOS BY SUSAN KAHN)

BY SUSAN KEETER

Ezekiel Sanford was 2 days old when his Binghamton pediatrician told his parents: “You have to take him to Upstate.”

A routine blood test showed that Ezekiel had a rare inherited disorder called phenylketonuria, or PKU, which affects one in 15,000 newborns. The pediatric geneticist and medical specialists he needed were a short drive away, in Syracuse.

Joan Pellegrino, MD

Joan Pellegrino, MD

At the Upstate Golisano Children’s Hospital, Ezekiel is seen by pediatric geneticist Joan Pellegrino, MD, and her team, which includes a dietitian, nurse practitioner, genetic counselor, social worker and nurse. His first year, Ezekiel had many appointments and lots of blood work done at the children’s hospital.

One of their first tasks was to help Ezekiel’s mother, Melissa Sanford, figure out how to breast-feed her son safely. It required alternating breast milk with a special formula for infants with PKU, counting the minutes he nursed and measuring the ounces of formula he drank. The family has become accustomed to this level of watchfulness.

For the rest of his life, Ezekiel will need to follow a strict diet that limits his intake of phenylalanine, an amino acid found in most foods, particularly those that contain protein.

Ezekiel’s diet includes no bread, no dairy and no meat. He eats fruits and vegetables and gets one-third of his calories from a formula that contains a synthetic protein that lacks phenylalanine. Everything he eats has to be weighed in grams and calculated for its phenylalanine content. Fortunately, Ezekiel loves fruits and vegetables and is happy to remind anyone who’s listening that “cooked carrots are yum, yum, yum.”

“Ezekiel is receptive to his diet, and we are vigilant,” explains his father, George Sanford.

With guidance from the Upstate team and their own research, Ezekiel’s parents have found conferences, support groups and medical food companies, all of which help Ezekiel lead a healthy, normal life. His parents read food labels carefully, contact manufacturers and order products from medical food companies. As a result, Ezekiel is able to enjoy pizza and garlic bread, as long as it’s made with a special flour designed for people with PKU.

Today, Ezekiel is 5, and he’s used to the biweekly, at-home blood tests that will always be part of his life.  He sees his Upstate team twice a year and started kindergarten this fall.

Ezekiel, his parents and three siblings are looking forward to moving to a farm — where they plan to grow lots of fruits and vegetables.

Testing for PKU

All babies in the United States, plus many other countries, are routinely screened for metabolic disorders, including phenylketonuria, or PKU, at least 24 hours after birth. A few drops of blood are collected from the heel or the bend in the arm.

In PKU, the body is unable to break down the amino acid phenylalanine. If it builds to harmful levels in the body, phenylalanine can cause intellectual disability, neurological disorders and other serious health problems.

People with PKU must limit their intake of dietary protein and may take a nutritional supplement that provides adequate protein without phenylalanine.

Upstate Health magazine summer 2017 coverThis article appears in the summer 2017 issue of Upstate Health magazine.

 

 

About susankeeter

Occasional contributor Upstate’s Susan Keeter has written about and painted Upstate’s Dr. Sarah Loguen, one of the first African American women physicians. Keeter created the horse sculpture in front of the Upstate Golisano Children’s Hospital and illustrated a children’s book on autism, “Waiting for Benjamin.” She’s written for Physician Practice, Upstate Alumni Journal, Cancer Care and Upstate Health magazines. Reach her by email at keeters@upstate.edu or by phone at 315-464-4834.
This entry was posted in diabetes/endocrine/metabolism, diet/nutrition, genetics, health care, patient story and tagged , , . Bookmark the permalink.