When Colby was born in April, her mother, Jennifer Speth, tested the infant for diabetes. "We did it just for curiosity, never expecting she'd come back as a high risk," says Speth.
Colby is part of a national project called TEDDY (The Environmental Determinants of Diabetes in the Young). Parents are asked to consent to diabetes screening of their newborns; high-risk infants—those who test positive for the genes and have at least one close relative with Diabetes 1—benefit by close follow-up. Participants receive blood tests every three months until age four, and then every six months until age 15.
In Colby's case, the nurse took a drop of blood from her heel at the same time as she drew a sample blood spot for the testing of rare metabolic diseases such as PKU (phenylketonuria). Scientists analyzed Colby's DNA, looking for two immune-regulating genes related to Diabetes 1—HLA-DR and HLA-DQ. The test results suggested that Colby was 100 times more likely than most children to develop Diabetes 1.
"It was a shock," says Speth. "But now we'll know to monitor her." Speth is grateful for the advance warning about Colby's health risk. But would all parents feel the same? And this brings up the question: Should newborns be routinely tested for diabetes?
The Great Debate
Many doctors believe screening for Diabetes 1 makes sense due to the increasing prevalence of the disease. The Juvenile Diabetes Research Foundation reports that the rate of Diabetes 1 has risen by three percent to five percent over the past few years.
Scientists don't yet know the reason for the steady growth, but theories abound. Some researchers attribute the increased rate to a diet of gluten and cow's milk. Others look to viral infections (such as rubella, mumps, and coxsackie B4), vaccinations, a germ-free environment, toxic agents and/or psychological stress. Robert Vogt, Ph.D., a scientist at the Newborn Screening Branch of the Centers of Disease Control and Prevention (CDC), points to the obesity problem in children.
Another impetus for diabetes screening is the disease's destructiveness. Diabetes can cause kidney problems, blindness, and even amputations. Early diagnosis, however, can prevent a mad, panicky dash to the ER with a sick baby or child, says Desmond Schatz, MD, a diabetes researcher at the University of Florida in Gainsville. Because these "nonspecific" flu-like symptoms often go unrecognized as biomarkers of Diabetes 1, children sometimes wind up in the ICU, suffering from ketoacidosis toxicity, which can lead to brain swelling. "Anecdotally, we know there are a few deaths each year," says Vogt. "Irreversible brain swelling can lead to a dangerous electrolyte imbalance."
Case in Point
Knowledge translates to power, says Andrew Muir, a pediatrics professor at the Medical College of Georgia. A clinician with TEDDY, Muir describes the case of a high-risk newborn with a diabetic father. During follow-up visits after the initial testing, the mother noted that the baby was wetting his diaper frequently. Three months later, the 18-month child was diagnosed with diabetes.
In fact, a recent research project known as DAISY (Diabetes Autoimmunity Study in the Young), headed by Jennifer M. Barker, MD, at the University of Colorado Health Sciences Center, discovered that only one (or three percent) out of 33 at-risk infants who were screened and monitored for the disease needed to be hospitalized. (The parents were given a glucometer to measure blood sugar.) The control group (also high-risk infants) had a 36 percent hospitalization rate. The conclusion? Parents alerted to their child's predisposition are more apt to recognize symptoms and avoid a pediatric emergency.
Another reason researchers favor screening is to study the genetic causes and the prediabetic period better, and to identify individuals for prevention trials. Currently, TEDDY and its sister project PANDA (Prospective Assessment in Newborns for Diabetes Autoimmunity), both funded by the National Institutes of Health and other health organizations, screen thousands of newborns in Florida, Georgia, and Washington. Other countries also participate.