(Salt Lake City, UT) – Many Utah children who are born with genetic disorders and survive ― and thrive―can thank one very passionate father from New York. The year was 1963, and Dr. Bob Guthrie was determined to learn why his then 16-year-old son John had been born mentally disabled. Using common household items like filter paper, an office hole punch and kitchen glassware, he created a simple way of collecting blood samples from infants and testing them for PKU, a condition in which the body can’t break down a certain protein. That protein builds up in the brain causing irreversible mental impairment. His son did not have PKU, but the disease afflicted his then 15-month-old niece, Margaret.
Fifty years later, Utah hospitals collect blood from every child born in the state through a simple heel stick. Two newborn screening specimens are collected on special filter paper, and tested for 38 different disorders. The first screen is usually done between 48 hours and 5 days of life, or right before discharge from the hospital. “Identifying infants with these disorders early is so important,” said Dr. Harper Randall. “They can get treatment, early intervention for physical and mental disabilities, and live longer healthier, lives.”
From 1991 to 2011, 989,684 – or nearly a million – babies were tested in Utah hospitals. Of those, nearly 4,600 were found to have one of the 38 disorders, including PKU, cystic fibrosis, hypothyroidism, and a variety of blood diseases, including sickle cell disease.
“Many of these disorders are not apparent at birth and there are severe consequences if left undetected,” said Dr. Nicola Longo, Director of the Metabolic Clinic at the University of Utah. “But early diagnosis and therapy can prevent intellectual disability and in some cases death,” Longo added.
The University Healthcare clinic follows more than 200 patients with PKU and hundreds more with other disorders who have benefited from newborn screening. “With screening, patents can achieve what they would have achieved without the disorder. This is one of the most effective systems to improve people’s health,” said Longo
Stacy Shaw’s second child, Emmalyn, was born in May of 2011. Her first few weeks of life were hard. “She seemed so different from her older brother,” said Stacy. “She wasn’t gaining weight, so we thought she was allergic to milk. Once we were sent to the ER thinking she had a bowel obstruction,” she added.
A few days later, Emmalyn’s pediatrician called about her newborn screening results. Emmalyn had cystic fibrosis.
“Although the diagnosis of CF has been hard, we are grateful the newborn screening caught it at such a young age, giving us a chance to keep her as healthy as possible,” Stacy said.
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Public Information Specialist