Brad Was Fortunate “to Live Near a Hospital like Glennon”
Brad Gould is 24 and one of the oldest patients visiting SSM Cardinal Glennon Children’s Medical Center. He was born with phenylketonuria (PKU), a rare and potentially devastating genetic disease that prevents his body from processing protein, a component of many common foods.
Brad exemplifies the success with which PKU can be treated. The current treatment regimen was still evolving during his childhood so he is among the first adults to grow up with the disease but not its symptoms. PKU adults are so few that many still must visit pediatric centers for their care.
“People like me don’t have a choice,” Brad said. “Glennon is the only place I can go.”
“He is a pioneer,” said Petra Swidler, M.D., one of the doctors who has cared for Brad at Glennon. “He is a great patient who takes his condition seriously and does what he needs to do.”
Successful treatment of PKU depends upon the patient’s adherence to a strict, protein-free diet. That means avoidance of such common foods as meat, eggs, fish, bread, noodles, nuts, beans, milk, cheese, ice cream and chocolate.
“This is a strict diet that is very, very hard to follow. Brad has embraced it,” said Swidler, an instructor in pediatrics at Saint Louis University School of Medicine.
Phenylketonuria results from the deficiency of an enzyme needed to metabolize phenylalanine, an amino acid in protein. In patients who have PKU, un-metabolized phenylalanine accumulates in the body and harms brain growth and function. The disease was first identified in 1934. For decades children born with PKU could not be treated, however, and most had intelligence quotients lower than 60.
In the 1960s PKU became one of the genetic diseases for which newborns in the United States are routinely screened in the first days of life. Protein-restricted diets and nutritional supplements improved outcomes. For several decades, it was believed that special diets were needed only during the early bursts of brain development and children were allowed to resume protein intake as soon as six years of age. It was not until 1993 that the National Institutes of Health issued guidelines declaring the PKU diet a “treatment for life.”
“Brad is at the upper limit of the age group who were growing up when they finally realized the PKU kids had to stay on their diet for life,” said Beth Piper, R.D., his dietitian at Glennon. “Before that, they would keep the kids on the diet for a shorter time. Then they found out that they would develop all these issues after they were off the diet.
“Now we know that they are equally with their peers developmentally as long as their diet is controlled. To look at them, to talk to them, they are completely normal.”
Phenylketonuria affects about one in 15,000 children. It is caused by an autosomal recessive gene that must be transmitted to the child by both parents.
Surprisingly, PKU had never been known in either of Brad’s family trees and did not affect his older brother and sister. “It is odd that I am the first one, because both of my parents have really large families,” Brad said. “It had to have been there somewhere in the past but was never diagnosed.”
He was referred to Cardinal Glennon as soon as his PKU diagnosis was confirmed and visited every week or month for blood tests and counseling. His whole family worked on his diet.
“It really wasn’t that hard for me to stay on my diet because I never had to give anything up. I don’t know what I am missing,” he said. “My parents were good about keeping me away from things I was not supposed to have. If my brother and sister are cooking something, they know how to make it without protein.”
Brad’s diet consists largely of specially-made foods that are shipped to his house in frozen containers. He also takes a bottle of pills each day to replace the protein missing in his food. “I take 25 pills in the morning, at noon and in the evening, 75 a day. They contain protein broken down into its amino acids for me.”
Specialists who treat PKU now know that phenylalanine is harmful even to adults. “I have had times when my levels have gone pretty high,” Brad said. “The most noticeable effects would be lack of concentration and irritability. If I were to go off my diet, I could get into severe depression and irreversible brain damage. If you look at it that way, it keeps you from going off your diet.”
Last fall Brad entered Logan College in Chesterfield to begin working toward a doctoral degree in chiropractic medicine. He occasionally is invited to speak to patients and medical students at Glennon. “I have pulled him in a couple of times to keep other patients on track,” Swidler said. “He can talk to them like he is their pal – he knows how difficult the diet is but he has lived through it and made good with it.”
Because he has taken his disease and diet seriously, she said, “He is a healthy adult who can lead a fulfilled life. I know he will become an excellent chiropractor.”
Katherine Christensen, M.S., has been Brad’s genetic counselor at Glennon for six years. “One aspect I like about the metabolic patients is that I see them on a regular basis because they have life-long conditions,” she said. “If their disorders are identified early they are treatable. As a whole they are very healthy and do nicely developmentally.”
Brad was active and energetic throughout his years at Duchesne High School in St. Charles, Missouri. He earned a bachelor’s degree in biology at Rockhurst University in Kansas City before deciding to become a chiropractor. He is certain that his lifelong contact with Cardinal Glennon opened him to the possibility of a medical career.“
When I was younger I was always at the hospital, just for regular blood work and meeting people. There are people who are really afraid of hospitals, but they don’t bother me at all,” he said.“
My mom always said, ‘I don’t know how people who don’t live near a hospital like Glennon can handle it.’ When we were starting out, we had no idea what to do. It was so rare. The fact that we live in an area where there are people who can treat PKU is huge. People come from all around the Midwest to see somebody at Glennon. To have had it a 20-minute drive away from me was amazing.”