Three Generations Under CHOP’s Care for HI

Hyperinsulinism, a disease in which the pancreas secretes too much insulin, dropping blood sugar levels dangerously low, is often inherited. Given her family’s history with HI, when Kristen found out she was pregnant in January 2022, one of her first calls was to Diva D. De León-Crutchlow, MD, MSCE, Chief of the Division of Endocrinology and Diabetes and Director of the Congenital Hyperinsulinism Center at CHOP.

“I jumped on the phone with Dr. De León right away,” Kristen says. “I wanted to make sure I was being very mindful of how I was managing my HI while I was pregnant, to protect the baby.”

The multidisciplinary HI Center, with its extensive experience as the nation’s largest center for HI, continues to see patients into adulthood.

Dr. De León assured Kristen that the mother’s body will use all its resources to care for the fetus. “She told me my body would triage the baby over me. But because I have lower stores of glucose, I had to pay strict attention to my sugar levels,” Kristen says.

Kristen has managed her HI with diet and exercise since she was able to stop taking diazoxide, the front-line HI medication, in her teens. Admittedly, she has played “fast and loose” with checking her blood sugar and following her care plan. But during her pregnancy, she was the model patient. “It wasn’t just about me anymore,” she says.

Dr. De León advised against Kristen having the typical test for gestational diabetes because chances are Kristen wouldn’t react in the usual way to the sugar-saturated pre-test drink, and it might lead her obstetrician to misdiagnose her with diabetes. Instead, Kristen wore a continuous glucose monitor for a month, which reassured her OB she didn’t have gestational diabetes.

Tapping into new HI discoveries

A lot of knowledge about HI has been discovered since Grandpa Brad was treated 65 years ago, and even since Kristen became a patient in the 1990s. Because Kristen’s HI was able to be managed with diazoxide, the exact genetic mutation wasn’t crucial to her care. She and her family had participated in a research study that showed that they had a ABCC8 mutation. However, it was crucial to confirm these findings in a certified genetic laboratory to determine the odds her baby had of inheriting HI.

Kristen had a genetic test, and the results confirmed that she had the ABCC8 mutation. That form of HI is a dominant mutation, which — since her husband, Chris, does not have HI— meant Kristen understood there was a 50% chance her baby would be affected.

At 20 weeks of her pregnancy, Kristen and Chris met with Dr. De León and HI Center genetic counselor Vickie Sanders, MS, LCGC, to get up to speed on the ABCC8 mutation and make a “what if” plan.

“I was prepared mentally that she would have HI, since there was a good chance,” Kristen says. “And we also knew that my type of HI is responsive to diazoxide, so she could be kept safe if she did have it.”

A move to CHOP at 3 days old

Brad holds his granddaughter Rian, joined by grandmother Teresa, mom Kristen and dad Chris. When Rian was born in Bryn Mawr Hospital in October, the medical team checked her glucose levels immediately and they came back in the 40s — a bit low, but within the normal range for a newborn. When her glucose didn’t rise after a couple of hours, Rian was moved to the NICU for closer monitoring and given dextrose through an umbilical catheter to boost her glucose levels.

“I kept thinking: The world’s foremost hospital for HI is 15 miles down the road. I wanted Rian at CHOP,” Kristen says. It was October 2022, smack in the middle of a huge surge of respiratory illnesses that had CHOP above capacity. “I called Dr. De León, and she said Rian would have the first available bed on the Endocrinology unit. She was transported to Philadelphia by ambulance when she was 3 days old.”

While waiting for the genetic test results, under the care of CHOP’s HI Center, Rian underwent diagnostic studies, fasting studies and an echocardiogram and was started on twice-a-day diazoxide since, clinically, she presented as having HI. The genetic testing results confirmed that she had inherited the family mutation.

Rian was discharged after she made it to six hours without eating during a safety fast. Kristen and Chris tested her glucose level every three hours at first, gradually spacing it out to every five hours. So far, her glucose levels have stayed in the 70 to 100 range, which is safe. Since a side effect of diazoxide is fluid retention — another new learning since Kristen was little — Rian also takes a diuretic to help her pass any excess fluids.

A champion eater, medicine and all

Brad was a CHOP patient in the 1960s, and his granddaughter, Rian, is now under the care of CHOP’s HI Center. Luckily, Rian is a good eater and loves her pacifier. When it’s time for a dose of medicine, Kristen uses a special medical pacifier that can accommodate a syringe. “We give her the medication that way, and she sucks it down no problem,” Kristen says.

“She’s champion eater.” That’s important because steady breastmilk intake helps even out her glucose, too. “She’s the happiest baby of all time, always smiling. And this week, she laughed for the first time. It was so cute.”

Grandpa Brad, an even-keeled kind of guy, was just a bit taken aback when he saw Rian for the first time. “Nothing makes him sweat, but he was just a little scared at first,” Kristen says. But knowing his granddaughter was in the expert hands of the HI Center put him at ease in a hurry.

“We even joke about how lucky we are,” Kristen says. “Our type of HI responds to medication, and he and I have been fully functional. We have a good outlook about it all.”

Read about the family’s earlier experiences at CHOP.