Published onHI Hope
From the looks of Naomi* now, a bright kindergartner who knows her ABCs and is teaching herself to read, you’d never know she went for nine months before her congenital hyperinsulinism (HI) was properly treated.
“We are so grateful that she never had any seizures or brain damage,” her mother, Esther*, says. “She never had any symptoms, other than low blood sugars.”
Low as in really low, from Naomi’s second day of life.
Esther had a normal pregnancy and delivery in her local Brooklyn, N.Y., hospital and thought all was well until a doctor rushed in the next morning and said Naomi had been moved to the Newborn Intensive Care Unit because of hypoglycemia. Doctors began to give her dextrose intravenously, thinking the lows would pass. They upped the amount, but still Naomi was hypoglycemic. It wasn’t until a week had passed that she was started on diazoxide, the frontline medication for HI. It seemed to help, at least a little.
After five weeks in the NICU, Naomi came home. Esther and her husband had been taught how to pump her full of dextrose and were given strict instructions: “Feed her every three hours, on the dot,” Esther says. “She grew a lot of facial hair, and she was fat, really fat, because we were always feeding her.”
A stomach virus at 7 months landed Naomi back in the local hospital, where doctors placed a feeding tube through her nose to better keep the dextrose flowing. After Naomi spent two months in and out of the hospital, the local endocrinologist admitted he couldn’t help her and recommended Esther bring Naomi to CHOP. “They were at a loss what to do,” Esther says. “One night, her low sugars dropped to 18.”
Once under the care of Charles Stanley, M.D., in the Congenital Hyperinsulinism Center, Naomi was diagnosed with diffuse disease and started on a regimen of twice daily shots of octreotide with continuous dextrose via a feeding tube overnight.
Most children with the genetic mutation Naomi has, the common Ashkenazi Jewish ABCC8 HI mutation, require a 95 to 98 percent pancreatectomy. However, Naomi was stable and ready to go home in two weeks. The nasogastric tube was replaced with a gastrostomy tube a few months later, and the combined octreotide-dextrose treatment has controlled her HI ever since. At CHOP, only a small percentage of patients with recessive mutations in ABCC8 have been able to be treated without surgery.
“She’s totally normal, rambunctious, lively,” says Esther. “The only help she gets is from a health paraprofessional, who checks her sugar and gives her something to eat if it’s low.”
And that’s only as a precaution. Naomi has been checking her own sugar since she was 3, smart girl that she is.
*Names were changed at the family's request.