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Saturday, Nov. 22, 2014

Expanded newborn screenings not funded

Tuesday, April 30, 2002

SIKESTON - Six years ago, Lee and Cathy Bowman Jr. of Sikeston got some news about their newborn baby that, while serious, would have been devastating if not detected.

"We have a child that has a genetic disorder - PKU it's called," said Lee Bowman.

The disorder was found during their child's mandatory newborn screening. "We had no family history to our knowledge," said Bowman. "That's why it's critical that babies get tested for these things."

PKU, short for phenylketonuria, is a genetic disorder in which the body is unable to process certain amino acids. Left undetected and untreated, PKU can cause severe mental retardation, seizures and a shortened lifespan.

Thanks to the screening and treatment, which consists of lifelong dietary management and counseling, the Bowmans' child is living an otherwise normal life. "But if he had a different type of disorder, it might not have been caught," said Bowman.

Newborn screenings for the three or four most common and serious genetic and metabolic disorders have been mandatory for some time, but as near as five years ago the cost was prohibitively expensive and cumbersome for widespread testing for more than those.

Recently developed technology - namely Tandem Mass Spectrometry - has changed all that, however. "They can now screen for 20 or 30 disorders with the same three or four drops of blood," said Lee Bowman. "No more pain, no more complications." Tests that used to cost $1,000-$2,000 now can be done for under $20.

In light of these advances, states across the nation are adding to the list of disorders checked in mandatory newborn screenings.

Unfortunately, Missouri's recently-passed House Bill 279, which mandates that the department of health expand the newborn screening requirements, includes the phrase "subject to appropriations."

The total net effect on all state funds was predicted to run between $1,549,544 and $1,587,544 for fiscal year 2002 to get the program started.

"Nothing is being done because we ran into a cash crunch," said Bowman. "They don't have any funding to set up the lab equipment and get it off the ground."

Pediatrician Dr. Kevin Blanton also feels very strongly about the enhanced screenings for newborns.

"I think its really a no-brainer from my perspective. Some kids die from these disorders. If it's important enough to pass it, then find the money. It's a matter of priorities," Blanton said.

"They'll find the money for a new baseball stadium before this," he predicted. "It's putting baseball before children."

With PKU and other genetic and metabolic disorders, early detection is the key to successful management but they can be very difficult to diagnose from symptoms alone. "The baby may not have any symptoms until its too late," said Blanton.

Currently Missouri tests for five disorders, according to Blanton: PKU, hypothyroidism, sickle cell disease, galactosemia and CAH.

Primary Hypothyroidism, while treatable with medication, can cause severe growth problems and mental retardation if not detected.

Galactosemia is a milk sugar intolerance that can cause vomiting, mental retardation and cataracts. Like PKU, a controlled diet can control the disorder.

Blanton said the CAH is the only disorder among the expanded list appearing in the bill to receive funding so far.

It's flu-like symptoms can cause the risk of severe dehydration, but CAH can get much worse when left untreated. "It causes premature puberty and stunts their growth, ultimately," said Blanton. "The legislature needs to keep up with technology. Illinois has been screening for it for years. Missouri should have been screening for it for a long time."

While parents have the option of getting the tests privately, in most cases medical insurance will not cover the cost of the tests, nor are they covered by Medicaid.

Bowman believes it will take a strong grassroots movement to compel legislators to fund the enhanced screenings. "It's almost horrible that it's not being done now," said Bowman. He reasoned that the money saved by not having to treat people for these disorders due to early detection would cover the costs incurred by the additional tests.

And other factors you just can't put a price tag on. "You are going to save some children's lives and heartache for the parents," said Bowman.