Family underscores importance of metabolic screening
A local family is urging new parents not to shy away from a simple screening test for newborns.
John and Chanelle Shoff are the proud parents of threeyear-old Sloan, and are expecting their second child any day. They are grateful that when Sloan was born, they did a simple heel prick test which gave them the information they needed to help their son live a healthy, normal life.
The simple metabolic screen test revealed that their son had Phenylketonuria (PKU). This is a metabolic condition where Sloan is not able to break down a particular amino acid.
Because they did the test, they were able to act right away.
“With PKU, when you start feeding them, it shows up in their blood because they can’t break it down,” she said. The risk of PKU is elevated levels of phenylalanine in the blood which can be toxic. “It’s just basically poisoning them,” she said.
Further, even though the child is feeding, and because it is not able to break down the amino acid needed for growth, the body is being starved of these building blocks.
“The baby doesn’t develop properly, because you don’t have the proper proteins to build the brain, the muscle and nerves. That is why they don’t meet their milestones.”
With PKU, Sloan is not able to eat many regular foods that contain protein, and he is on a strict diet. “We do bloodwork on him every week and constantly monitor him,” she said. Aside from this, Sloan is a healthy young child.
Beyond PKU, metabolic screening tests for 17 treatable conditions including cystic fibrosis. It is non-evasive and involves a simple small poke to the heel done between 2472 hours after birth. The test is offered, but can be refused, so the lab must ask for consent. It is a simple lab test that has been around since the 1960’s.
Chanelle is also a registered nurse and feels it is important people understand the importance of these tests.
“There is sort of a trend in health care with people refusing immunizations, medical treatment and medical testing,” she said, including the test for metabolic screening. “This stems from basically everyone wanting the best for their child, but these decisions need to be done in an educated and informed way.”
She said it is all about prevention.
“Everyone wants their kids to be healthy, so prevention is important. It signals a huge savings to our health care system and less heartache,” she said.
Sloan Shoff was born with Phenylketonuria (PKU), a metabolic condition where he is not able to break down a particular amino acid. Metabolic screening, performed just after he was born, allowed him to be treated and he is living a normal, healthy life.