Unfortunately, Adam’s path to finally being diagnosed with hyperinsulinism/hyperammonemia (HI/HA) syndrome took an all-too-familiar wrong turn.

His family first took him to the emergency room in Chicago when he had a grand mal seizure at 2 months old, and doctors diagnosed him with epilepsy. It’s not uncommon for a child with a seizure to get an epilepsy diagnosis and later have it turn out to be something else. Two studies found that happens between 25% and 30% of the time. The Chicago doctors put Adam on phenobarbital, an antiseizure medication that also works as a sedative.

“One day, when he was 4½ months old he didn’t wake up,” says his father, Mazen. “We took him back to the hospital. That was the first time they checked his blood sugar, and it was 32. (Normal for a 4-month-old should be around 70 to 120 mg/dL.) They gave him glucose, and he woke up.”

Adam’s hypoglycemia (low blood sugar levels) also woke up his doctors to seek a new diagnosis, and that’s when he was diagnosed with HI/HA.

First Step: Diazoxide

Adam was started on the front-line HI medication, diazoxide, to keep his sugars up. They stayed on the low side, but fairly consistent. He didn’t have another grand mal seizure for seven years. “Doctors left the HA part alone until 2016 when his ammonia level sky rocketed,” his mother, Shelan, says.

The spike in his HA was probably triggered by another antiseizure medication, Depakote, which he began taking after he had second grand mal seizure in 2015. One side effect of Depakote is to raise ammonia levels — which in Adam’s case were already high.

Adam’s endocrinologist in Chicago was perplexed. “She was honest with us,” Shelan says. “She didn’t know what to do.” That started his family on another search for answers.

It was a Boston neurologist, Phillip L. Pearl, MD, who told them about the Congenital Hyperinsulinism Center at Children’s Hospital of Philadelphia (CHOP). Dr. Pearl had worked with HI Center founder Charles Stanley, MD, in the past, and advised Shelan and Mazen that “CHOP was the place to come for hyperinsulinism,” Shelan says.

In 2017, the family came to CHOP for the first time and saw Diva D. De León-Crutchlow, MD, MSCE, Chief of the Division of Endocrinology and Diabetes and Director of the HI Center.

“Right away, Dr. De León upped his dose of diazoxide,” Mazen says, “and ever since, his sugars have never been less than 90 to 100.” She also advised them to continue to make sure Adam ate enough carbohydrates before he ate any protein, to reduce lows. The combination allowed the family to cut way back on the amount of sugar he was eating as his glucose levels stayed high enough without it. That led to getting his weigh in synch with his height. His ammonia levels, while still high, have also stabilized.

From Grand Mal to Absence Seizures

While grand mal seizures haven’t returned, Adam has multiple “stare” seizures, also called absence seizures, every day. “Many, many,” Mazen says.

Absence seizures, which are relatively common in children with HI/HA, are much more subtle than grand mal seizures. A child may stare off into space, not responding even when they are called or touched. They may have slight shaking or eye fluttering.

Adam’s doctors back home didn’t recognize what was happening. “He was still having absence seizures and eye fluttering, but the doctors never figured they were seizures,” Shelan says. “They even referred us to an eye doctor, thinking it was an eye problem. I know; it’s ridiculousness.”

Once the absence seizures were finally diagnosed, his parents took Adam to several neurologists. “We’re tried everything to reduce the seizures,” Mazen says. “I can’t even begin to tell you how many medications he tried. Some kept him stable, some made them worse, but nothing helped.”

While in Philadelphia to see Dr. De León-Crutchlow, Adam was introduced to CHOP’s Division of Neurology and came under the care of neurologist Sudah Kessler, MD, MSCE. Adam is now participating in a research study that is testing the effect of vitamin E on ammonia levels with the goal of reducing seizures.

“We’re hopeful the study will find something that helps him,” Mazen says.

Dealing with the Now

The combination of uncontrolled blood sugars early in life and thousands of absence seizures has left Adam, now 10, with developmental delays. The seizures also affect his sleep, so he’s rarely fully rested. He’s in the fifth grade, but is at a second-grade academic level. He attends school two full days a week — “It’s really tiring for him,” Mazen says — and then three half days, supplemented by a home tutor.

Mazen is Syrian and Shelan is from Kurdistan Iraq, but they met in the United States. And, despite the delays in correctly diagnosing Adam’s HI/HA and absence seizures, they’re grateful to have access to a robust healthcare system, especially CHOP.

“We’re so glad we were in America when we had Adam,” Mazen says. “In Syria and Iraq, kids get sick and no one cares. At CHOP, everyone cares about each child and about the parents, too.”

Now, Mazen and Shelan are working with Congenital Hyperinsulinism International, a nonprofit that has funded HI research at CHOP, to translate some of the educational materials on its website into Arabic so doctors and families in Syria have access to information.

“I’m sure there are children there who have HI. But no one knows anything about HI or HI/HA,” Mazen says. “We hope some people will benefit being able to access information.”