International expert from Cook Children's leads team in establishing newborn guidelines for rare disorder

Unless you are one of the 80 to 120 parents whose baby has been born with congenital hyperinsulinism (CHI), odds are you’ve probably never heard of this rare and severe disorder.

Even skilled physicians may not be on the lookout for something as uncommon as CHI in newborns, which could be the difference in preventing irreversible damage and improving the quality of a child’s life.

That may all change following an article published in the Journal of Pediatrics titled, “Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants and Children.”

Paul Thornton, M.D., medical director of Cook Children’s Congenital Hyperinsulinism Center and Endocrine and Diabetes program and an Endowed Chair, led the team of experts from around the world in creating new screening for physicians to recognize and manage neonates at increased risk for a persistent hypoglycemia disorder.

“Infants with uncontrolled hypoglycemia caused by CHI are at risk for seizures or permanent brain damage without early identification and screening,” Dr. Thornton said. “These new guidelines will help physicians who recognize these symptoms shortly after birth and then provide the specialty care which may make the difference on whether this child has a productive and fulfilling life.”

The article states that “failure to investigate a neonate, infant, or child with suspected hypoglycemia increases the risk of delaying a definitive diagnosis and instituting effective treatment.”

But quickly identifying the specific cause of hypoglycemia allows for timely and appropriate treatment to begin and decreases the risk of permanent brain injury from persistent and recurrent severe hyperglycemia.

Dr. Thornton was chosen as the principal author of the article because he’s internationally known in the field of CHI. He leads a highly skilled team of specialized physicians and supporting specialists to treat hyperinsulinism.

Cook Children’s Hyperinsulinism Center is the only one of its kind in the Southern U.S. and the second in the country.

Davelyn Hood, M.D., president of the CHI Board of Directors said her organization “is thrilled beyond words” that long-awaited hypoglycemia guidelines have been published this month in the Journal of Pediatrics.

“We consider this a sentinel moment in time for the entire congenital hyperinsulinism community,” Dr. Hood said. “Many patients born with this congenital HI are discharged from newborn nurseries without adequate study of their hypoglycemia, often with tragic consequences. These guidelines give us hope.”

Dr. Hood said she believes the guidelines will save countless lives and improve the well-being of HI children everywhere. She also praised Dr. Thornton for all of his work for CHI patients.

“He cares for children across Texas and the U.S. with one of only two dedicated Hyperinsulinism Centers in the country,” Dr. Hood said. “He speaks to clinicians around the globe about the proper management of hypoglycemia and leads HI research to better understanding of the disease and best treatment options. Most importantly, Dr. Thornton, brought the HI research community together, took all of their collective knowledge regarding hypoglycemia and its underlying causes, and articulated that into clear guidelines for clinicians of all types that care for neonates, infants and children. Dr. Thornton is a definitely a ‘CHI Super Hero.’”

More about Cook Children's Hyperinsulinism Center

One of only two such programs in the nation Cook Children's Hyperinsulinism Center uses a specialized team approach to treat this rare disease. Hyperinsulinism affects many areas of the body, so to truly treat the disease, each child is seen by top physicians, nurses, researchers and specialists in the field. These medical professionals have spent additional years of intense study and have dedicated their practice to focusing on hyperinsulinism so that your child will has access to the medical care that treats all the symptoms. It is this level of treatment that has helped earn our program a distinguished international reputation for extraordinary care and achieving positive results.