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Before a nurse collected blood from Jennifer Speth's baby to routinely screen for rare genetic diseases, Speth was asked if she also wanted to find out if her newborn had increased risk for diabetes.
Speth said yes --- and learned that auburn-haired Colby Grace, born this April, is up to 100 times more likely than most children to develop type 1, or juvenile, diabetes.
"We did it just for curiosity sake, never expecting she'd come back as high risk," said Speth, 26, of Augusta. Neither Speth nor her husband, Michael, has a family history of the disease. "It was a shock . . . but now we'll know to monitor her."
Parents in parts of Georgia are among the first in the country able to discover whether their newborns have an elevated risk for type 1 diabetes, which normally strikes at or before puberty. The disease requires a lifelong dependence on insulin shots or pumps, and it can lead to blindness, kidney failure, amputation and other complications.
Sometimes, the first symptoms can be fatal, when wayward cells suddenly break down fat, causing vomiting and abdominal pain often misdiagnosed as the flu.
Like type 2 diabetes, which normally occurs later in life and is often associated with obesity or inactivity, type 1 diabetes is on the rise. Scientists are not sure why, largely because they do not know what causes it.
Something in type 1 diabetics triggers the immune system to destroy cells in the pancreas that produce insulin, which regulates sugar in the blood. Genetics explain part of the picture. But diet, infections and possibly even today's relatively germ-free environment may have contributed to a spike in the disease in recent decades, researchers say. The rate appears to have increased by up to 3 percent a year.
To better understand the condition that affects about 1 million Americans, researchers are screening newborns to identify children most likely to acquire the disease and study them long before they get it. By looking at changes in blood proteins and surveying environmental factors --- from breast-feeding to water supply to medications used during pregnancy --- they hope to better predict who will get type 1 diabetes and learn what causes it and how to prevent it.
In the meantime, parents such as Speth can watch for thirst, frequent urination and other symptoms and start insulin earlier to reduce complications. And in children known to be at higher risk, doctors might better recognize the rapid onset of flulike symptoms as diabetic ketoacidosis --- cells breaking fat into compounds called ketones that can poison the blood.
"The benefits of knowing the high risk are tremendous, even though we can't prevent the disease yet," said Jinxiong She of the Medical College of Georgia in Augusta. He leads a study of newborn screening for type 1 diabetes in parts of Georgia and Florida.
Three hospitals in Gainesville, Fla., are participating, along with three in Augusta. Northside Hospital in Atlanta --- with 17,000 births a year, one of the highest tallies in the country --- joined this summer. Others in Athens and in Aiken, S.C., are expected to follow soon.
The only other places in the United States that have offered newborn screening for diabetes are the state of Washington and a hospital in Denver. The testing is done for free on a research basis with parental consent.
For now, diabetes is not among the conditions for which babies are routinely screened. The list, mostly of metabolic disorders that can be offset by special diets, varies among states. Georgia tests for eight conditions and expects to soon add a ninth.
If and when screening for diabetes will go mainstream is up for debate.
"I want it to occur now," said Dr. Bill Hagopian of the Pacific Northwest Research Institute in Seattle, who leads Washington's study. He said widespread testing would be beneficial because children known to be at higher risk get diagnosed earlier and become less sick.
But Dr. Bob Goldstein, chief scientific officer of the Juvenile Diabetes Research Foundation, said test results are not clear enough and would cause many parents to worry unnecessarily.
The test looks for mutations in two genes. A positive result means a child faces a 5 percent to 40 percent risk of developing type 1 diabetes, compared with a 0.4 percent risk in the general population. If children deemed at high risk are found in other tests to have certain antibodies, they have an 85 percent chance of getting it.
Other genes may soon be added to the test to refine the newborn screening, but results will still be murky. Since parents can't do anything to prevent the disease, Goldstein asks, why bother screening when the results aren't more certain?
"We would all like to do newborn screening eventually, but there's a lot of stuff to overcome," he said. "It's probably five or 10 years away, not one or two."
The Atlanta-based Centers for Disease Control and Prevention is working with state labs to prepare for the possibility of universal screening, said Robert Vogt, a CDC lab scientist.
Leading theories for causes of type 1 diabetes include children's consumption of cow's milk at an early age and viral infections such as rubella, mumps and coxsackie B4. Other dietary factors, such as gluten, have been studied, along with toxic agents and psychological stress.
Some support a "hygiene hypothesis," that children's immune systems are no longer properly activated by germs that used to abound.
Research into preventing type 1 diabetes is focusing on drugs or natural substances to suppress or better regulate the immune system, She said. A promising treatment, offered experimentally at Emory University and several centers nationwide, involves transplanting insulin-producing cells from donors into people with type 1 diabetes.
But with many genetic and environmental factors likely at play, the challenge is daunting.
"Each patient may have different causes, so we need many prevention strategies," She said.
Copyright 2004 The Atlanta Journal-Constitution
