HNF1A-hyperinsulinism: Eimy's Story

Eimy Villeda-Alvarado, born at 9 pounds, 11 ounces, was treated for hypoglycemia, or low blood sugar, at Pennsylvania Hospital for 19 days. When the typical treatment for neonatal hypoglycemia — supplementing Eimy’s feedings with dextrose (sugar water) — didn’t work, Pennsylvania Hospital neonatologists knew right where to turn: The Children’s Hospital of Philadelphia and its Congenital Hyperinsulinism (HI) Center.

Emily PatientCHOP physicians and nurses provide newborn care at Pennsylvania Hospital, one of 11 community hospitals affiliated with Children’s Hospital. Once transferred to CHOP’s HI Center, Eimy was diagnosed with a newly recognized type of HI, a transient form called HNF1A-hyperinsulinism, named for a mutation in the HNF1A gene. Treatment for HNF HI can be tricky. Children are responsive to diazoxide, but they usually require a smaller dose than other HI patients, according to Diva D. De León-Crutchlow, MD, MSCE, center director. That was the case with Eimy, who was initially an inpatient at CHOP for 2½ weeks.

“It was a roller coaster,” her mother, Fidelina Villeda-Alvarado, says through an interpreter. “She needed diazoxide, but it was hard to get the dose right. First it was too much and her blood sugar was high. Then it was too little and her blood sugar went too low. She had to go back to CHOP.”

The “just right” dose for Eimy continues to fluctuate as she grows, which is why Villeda checks Eimy’s blood sugar frequently, reporting any trends to Dr. De León-Crutchlow, and will continue to monitor it closely. Most children with HNF HI will outgrow it, but how long that takes varies.

“We have to keep testing and watch,” Villeda says. “It might be a year and she won’t need the medicine anymore. Or it could take eight years. We just don’t know.”

Now 14 months old, Eimy’s only restriction is to avoid juice; otherwise, she eats a regular diet. Typical of children on diazoxide, she has side effects of extra hair growth and sweating. Her favorite “game” is to take all the pots, pans and dishes out of the cupboard. “She is moving all the time,” Villeda says. “She’ll open the refrigerator, take out the eggs and break them. She keeps me very busy.”

As Eimy grows, Villeda and Dr. De León-Crutchlow will be on the lookout for signs of diabetes. The HNF genes are also involved in familial monogenic diabetes, formerly known as maturity-onset diabetes of youth or MODY, which means that Eimy will develop diabetes in her late teens or early adulthood. MODY is inherited, and it was only after Eimy’s HI diagnosis that her father, Jose, realized he was at risk for diabetes. Although his blood glucose is high, he doesn’t need treatment yet.

Since the Villeda-Alvarado family lives in Upper Darby, only 15 minutes from CHOP, it will be convenient for them to bring Eimy to CHOP’s Diabetes Center for Children when the time comes. “We have been very happy with the care we get from CHOP,” says Villeda. “This is a good place for Eimy.”

This interview was conducted with the help of professionally trained medical interpreter Vicki Poorman, a member of CHOP’s Language Services Department. Children’s Hospital offers interpreters for patients and families free of charge, and conducts more than 36,000 face-to-face encounters (70-plus languages with the majority in Spanish, Arabic, Cantonese and Mandarin) and 45,000 telephonic sessions (all languages) each year.

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