“With early diagnosis and treatment, complications from these serious conditions, such as mental retardation or even death, can usually be prevented.” —Sara Copeland, M.D.

Snuggled in the loving arms of his mother, Zachary Kain was the picture of perfect health following his birth at Iowa Methodist Medical Center in Des Moines.

Once they got him home, however, Zachary’s parents, Kathy and Aaron Kain of Urbandale, received an unwelcome phone call. Zachary’s regular physician informed them that his newborn screen was abnormal and they needed to do more testing.

The initial results didn’t particularly alarm Kathy, a trained laboratory technician who knows there can be false positive test screen results.

“I told myself it was probably nothing,” she says.

But the results of the additional testing mirrored the first newborn screening result. Zachary had a metabolic disorder called very long chain fatty acid dehydrogenase (VLCAD) deficiency, a rare but treatable cause of heart and liver disease (cardiomyopathy, fatty liver, skeletal myopathy, pericardial effusions, ventricular arrhythmias, and sudden death).

With the diagnosis of this disorder, the metabolic team at University of Iowa Children's Hospital, located at University of Iowa Hospitals and Clinics, started its follow-up. The Iowa Neonatal Metabolic Screening Program is directed by Sara Copeland, M.D., a biochemical geneticist. The program identifies babies who may have inherited metabolic disorders and alerts the babies’ health care providers to the need for further testing and special care.

The program’s linchpin is an Iowa law that mandates a heel stick blood test for every baby born in the Hawkeye State. These blood samples are tested for various metabolic disorders by the Des Moines branch of the University Hygienic Laboratory. If the test results are positive, the follow-up staff at University of Iowa Children's Hospital makes recommendations for further testing and, once a diagnosis is made, they provide monitoring and evaluation for the patient, and vital consultation and education services for the parents.

“The good news is that with early diagnosis and treatment, the majority of children with these conditions can grow up to lead normal, productive lives,” Copeland says.

Kain says the program’s staff, including pediatric nurse practitioner Judy Miller, R.N., and clinic nurse Pamela DeBoer, R.N., was extremely helpful.

“From the very beginning two years ago, the staff was really good about answering questions about VLCAD deficiency and putting our fears to rest,” she says.

To manage VLCAD deficiency, patients must embrace a high-carbohydrate fat-restricted diet and avoid fasting by eating frequently. When these children get sick with a virus, cold, or flu and do not eat, they must have IV fluids with glucose urgently. They cannot tolerate fasting or not eating. Some affected children are prescribed supplemental carnitine and medium chain triglyceride oils for alternative energy sources.

With lifestyle changes, Zachary and others like him will hopefully lead normal and productive lives.

“To make this work, we have had to change our diets as well and that involves a lot of careful food shopping and avoidance of fast foods,” Kathy says. “There’s a lot to learn and it takes time. We made many trips to Iowa City the first year, and we continue to rely on them as a valuable resource. I expect it will be that way Zachary’s whole life.”

The program has made a significant difference for Zachary, who has experienced no episodes relating to his disorder. “He’s a normal two-year-old,” Kain says.

“He’s starting to talk and he gets into everything!” Kain says Iowa’s newborn screening law, which tests for more conditions than most other states, is very progressive. “We’re fortunate to live in Iowa,” she says. “It scares me to think that, had we lived elsewhere, Zachary’s condition might have gone undetected for years, with severe consequences.” Individuals or families with questions about newborn screening, metabolic disorders, or the medical genetics programs at UI should call University of Iowa Children's Hospital. For consultation and referral, physicians may call UI Consult.

NEWBORN SCREENING

Iowa law requires all babies born in the state to be tested for the following metabolic conditions:

• Congenital hypothyroidism
• Galactosemia
• Hemoglobinopathies
• Sickle cell anemia
• Congenital adrenal hyperplasia
• Biotinidase,deficiency
• Expanded panel disorders (amino acid and fatty acid oxidation defects, including phenylketonuria)

LOOKING GOOD Two-year-old Zachery Kain gets re-acquainted with Sara Copeland, M.D., a University of Iowa Children's Hospital biochemical geneticist who directs the Iowa Neonatal Metabolic Screening Program.