Congenital Hyperinsulinism: Isaac’s and Levi’s Story

When Charlene gave birth to her third child, a daughter named Levi, in October 2021, she was told her baby’s blood sugar levels were dangerously low. It was almost three years to the day that Charlene’s oldest child Isaac was born and would later be diagnosed with congenital hyperinsulinism, a rare genetic condition that causes the body to create excess insulin. It had taken Charlene and her husband Alfredo months to find a diagnosis and treatment for Isaac. They knew they would need to act fast for Levi.

“I was scared because my baby's sugar shouldn’t be that low, but I kind of felt a moment of peace because I knew exactly how to take care of her,” says Charlene.

Finding a way to CHOP

In 2018, after Isaac was born in the family’s hometown of Florence, Ala., Charlene and Alfredo began to see signs of what Charlene describes as “episodes,” or small movements the baby made that looked like seizures. Their family doctor wasn’t so sure. It would take persistence and a few months of filming nine of Issac’s episodes on her phone for Charlene to convince their doctor to give them a referral to seek treatment at a larger hospital in Huntsville, Ala.

In Huntsville, Isaac symptoms persisted. An endocrinologist at the hospital there who had studied at CHOP sent Isaac’s medical records to Philadelphia for a second opinion and a diagnosis of congenital hyperinsulinism (HI) was confirmed.

With HI, the beta cells in the pancreas create too much insulin. The overproduction of insulin causes low blood sugar, which can lead to seizures, brain damage and even death. Early detection of the disorder is critical.

There are two types of hyperinsulinism: focal and diffuse. With focal, the cells responsible for creating too much insulin fall into clusters that can be surgically removed from the pancreas, effectively curing patients. A patient with diffuse HI has overactive beta cells throughout the pancreas and may be managed with medication or surgery or both may be needed.

Because the disorder is rare — 1 in 50,000 births — hyperinsulinism is not commonly seen in hospitals. The Congenital Hyperinsulinism Center at CHOP is one of the few places in the country that specializes in research and treatment of HI and sees a large number of patients with HI every year.

Isaac wouldn’t reach CHOP until he was 5 months old. At that point, the family’s medical bills were rising and Medicaid at first refused to cover treatment and transport to CHOP. In desperation, Charlene learned from a social worker about Grace on Wings, a nonprofit charity that offers medical transport and brought the family to Philadelphia.

Isaac was diagnosed with diffuse hyperinsulinism and would spend three months at CHOP during the spring of 2019. Issac’s condition can be managed with medication, and he was treated with lanreotide for a period of time. During his stay, he received a gastric tube, or g-tube, to deliver a continuous drip of dextrose (sugar water) at night. Charlene received training for two and half weeks on how to care for Isaac. She attributes the training and the partnership she felt with Issac’s care team at the HI Center as critical to helping her feel empowered, heard, and confident to care for her child. “That understanding calmed my nerves,” she explains.

It was during this time, through genetic testing, that Charlene also discovered that she has a mild form of hyperinsulinism.

Complications for Levi

Though Levi shares the same form of diffuse hyperinsulinism as her brother, hers was more severe, and her journey would prove to be more complicated. After Levi was born, Charlene feared the lack of specialized treatment available in Alabama was placing Levi’s health and development in peril. She contacted the HI Center immediately. The center shared its protocols for stabilizing Levi’s glucose levels, but she kept experiencing hypoglycemia.

One month after Levi’s birth, her health had deteriorated. Once again, Charlene pushed for treatment at CHOP. When the family learned that Levi had the same diffuse hyperinsulinism as her brother, CHOP sent a transport team to Alabama to bring Levi to Philadelphia. Levi’s condition was so poor, she was almost too sick to travel.

"As soon as I saw the CHOP logo on the transport team, I knew my daughter was safe and being taken care of,” says Charlene.

Charlene continued to experience difficulty with the family’s insurance and had to prove that Levi, like Isaac, had a life-threatening diagnosis that required treatment out of state.

Unlike her brother’s case, Levi’s hyperinsulinism could not be controlled with medication. It took a few weeks for Levi’s care team at the HI Center, led by Katherine Lord, MD, Medical Director of the Inpatient Endocrinology Service to stabilize her condition. Biopsies revealed that almost all of Levi’s pancreas would need to be removed.

“I wish everyone could have a doctor who actually listens to the parents. Dr. Lord sat down with me and allowed me to ask uneasy questions. I trusted her so much,” says Charlene.

N. Scott Adzick, MD, MMM, Surgeon-in-Chief who has performed more than 580 pancreatectomies, explained the surgery in detail to Charlene and Alfredo before Levi’s pancreatectomy on Dec. 2, 2021, during which 98% of her pancreas was removed.

“CHOP cares about the parents as much as they do the kids, and that was everything to me. I hadn’t had that experience before,” says Charlene.

A happy family

Levi is not currently on medication, but she has a g-tube in place for formula feedings. Charlene monitors her blood sugar levels several times a day and has insulin on standby in case Levi’s blood sugar gets too high. Because Levi’s condition necessitated a near-total pancreatectomy, she will likely develop insulin-dependent diabetes as she gets older.

Despite being behind on her milestones because of the early trauma she experienced, Levi is a happy little “daddy’s girl” with a bright and giggly personality. And she loves her big brothers — Leo, age 1, and Isaac, now 3. Issac’s prognosis is good. He is bright and fully bilingual. As he gets older, he will likely be able to manage his disorder with diet and exercise.

The family will travel to Philadelphia for check-ups for Levi and Isaac twice per year. The personal care they received at the HI Center has made a deep impression. “When I call CHOP, they know me. They listen,” says Charlene. “Everyone there is amazing. They all care so much about the kids.”