(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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Cyndi Bemis
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