Hyperinsulinism, LINE Type: Paige’s Story

She and husband, Kevin, took Paige to a local hospital near their Silver Spring, MD, home where doctors tested her blood sugar. It was 28 mg/dL, so low that Paige was immediately transferred to a major children’s hospital nearby.

It took three long weeks of eliminating every other possible diagnosis before doctors determined she had congenital hyperinsulinism (HI), a potentially fatal condition where the pancreas pumps out so much excess insulin, blood sugar drops to dangerously low levels. “They were puzzled and didn’t know what to do,” Kevin says. “They were looking at everything but HI.”

View this video with a transcript

Doctors put Paige on diazoxide, the front-line medication for HI. She was discharged, and because she wasn’t eating by mouth, her parents were ordered to feed her via a g-tube every four hours to keep her blood sugars in the safe range.

Diazoxide was not enough to manage Paige's HI

The family tried to get into a routine of giving Paige diazoxide, checking her blood sugar, and feeding her every four hours to keep her safe. “I kept a log. I have a background in engineering, and I looked at the numbers analytically,” Kevin says. “Even with everything we were doing, her levels kept dropping and dropping, as low as in the 40s.” Normal for a 5-month-old would be 70 to 120 mg/dL. “We’d increase the diazoxide, and her sugars would still trend down.”

Kevin and Maleka kept researching HI. “We determined the experts on HI were at Children’s Hospital of Philadelphia,” Maleka remembers.

That’s when they reached out to the Congenital Hyperinsulinism Center at CHOP. Charles Stanley, MD, center founder, gave advice about adjusting Paige’s dose of diazoxide and suggested they bring her to CHOP. They agreed.

Instead of facing “puzzled” doctors, they were surrounded by a team that had treated more HI patients than any other center in the world. Paige’s presentation was atypical, but Dr. Stanley guided treatment. Suspecting she may have focal disease, Paige had an 18F-DOPA PET scan. But, unfortunately, results did not give a specific location in her pancreas for her out-of-control beta cells that were causing her hypoglycemia, or low blood sugar.

No PET scan roadmap

Even without a “roadmap” from the PET scan, the HI Center team felt surgery was the best option. Surgeon-in-Chief N. Scott Adzick, MD, MMM, who has operated on more than 500 HI patients since coming to CHOP 23 years ago, told Maleka and Kevin he wasn’t sure what he’d find during the surgery. 

Once he saw Paige’s pancreas, Dr. Adzick could tell there was an area in the tail that “just didn’t look right,” Kevin relates. “He told us he started slicing it like an onion, a sliver at a time, until it looked normal. He removed about 15 percent of it in total.”

Post surgery, Paige was taken off diazoxide and then passed a fasting test, which proved Dr. Adzick had, indeed, removed all the faulty beta cells. Even though she didn’t have classic focal disease, she was apparently cured. Dr. Stanley wasn’t content. He continued to investigate her case, and a few months later determined she had a different type of HI called LINE.

LINE stands for localized islet nuclear enlargement. It occurs when the beta cells in the pancreas that are releasing too much insulin act like more typical diffuse disease cells, but instead of being dispersed throughout the pancreas (as in diffuse disease) are concentrated in a small area of it. That concentration allowed for Paige to be cured with surgery, thanks to Dr. Adzick’s expertise.

Any type of HI is rare, with one case in about 50,000 births. Of the hundreds of HI patients treated at CHOP, fewer than a dozen have had LINE type, Dr. Stanley says, which translates to an incident rate of about 1 in 500,000 births.

Overcoming HI-related challenges

Once home, Paige no longer experienced low blood sugar, but she still faced challenges. Like many HI babies who have frequent g-tube feedings that suppressed their appetites, she wasn’t used to eating by mouth. She also had motor skills and speech delays.

Her parents connected with their local Intermediate Unit (a public agency that provides developmental and education services), which provided in-home feeding and physical therapy. She initially went to a medical day care, the Arc of Montgomery County, where she benefitted from additional therapies. With the extra attention from professionals and her family, she quickly caught up.

Now 8 and in third grade, Paige is above grade level in reading and math. She plays soccer and softball and is in Girl Scouts. She loves music and is taking guitar lessons. “She's just an amazing little girl that has overcome great obstacles, and we have CHOP to thank for that,” Maleka says.

It’s official: Paige is cured   

Maleka’s hypochondriac tendencies kicked in when Paige was sick, and they would check her blood sugar, “just to be sure,” but she did not experience any lows in the years following her surgery. At her annual checkup at CHOP’s HI Center in June 2018, she was officially declared cured. “They told us we didn’t have to come back; she’s cured and cleared,” Kevin says.

“We are so grateful for everything CHOP did for Paige,” Maleka says. “Nowhere else in the world do the endocrinologists, nurses and surgeons know as much about HI as they do at CHOP. We had the best outcome we could have hoped for.”

Paige may still come back to CHOP in the future, but in a different role. When asked what she wants to be when she grows up, she says, “A pediatrician!”