From Personal to Public Advocacy: Ben’s Hyperinsulinism Story

Those two days also changed his mother forever. Ben’s experience became Julie Raskin’s motivation to tirelessly advocate on behalf of children with HI and to diligently spread the word about HI so other children will get immediate treatment and avoid preventable neurological damage and death.

“Right after Ben was born, when we were still in the hospital, I shared my concerns. In the first 12 hours of life he was ravenously nursing and then he was extremely lethargic with no interest in nursing. It was a very strange pattern. But the doctor said, ‘He’s a perfectly normal baby,’” Raskin says.

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When she brought him to an emergency room two days later, his sugar level was too low to be measured. It took 10 days to receive the diagnosis of HI, and Ben was transported to Children’s Hospital of Philadelphia (CHOP) to be treated by congenital hyperinsulinism specialists. He had diffuse disease and needed three surgeries (the last to remove part of his pancreas that had regenerated). Ben, now 21, has diabetes, low vision, and difficulty with motor skills as a result of his unrecognized low blood sugars as a newborn.

He has completed his junior year at Landmark College in Putney, VT, 400 miles away from his New Jersey home, progressing toward a Bachelor of Arts in liberal studies. With occasional support from the college’s health clinic, he manages his diabetes with a continuous glucose monitor and an insulin pump. CHOP’s Diabetes Center prepared him to care for his diabetes on his own, and his nurse practitioner there, Heather McKnight, RN, MSN, CRNP, is available for a quick phone consultation if he needs it.

“I’m doing really well,” he says. “My A1C (the long-term measure of blood sugar) has been pretty good for a kid in college.”

Ben continued his love of singing that he developed at Glen Ridge (NJ) High School, where he was in 16 plays and a member of his school’s elite choir. After taking chorus for two years in college, he’s taken three physical ed classes recently. “They have helped me develop a mentality about how important it is to live and eat healthy,” he says.

“He’s a determined young man,” says Raskin. “He has a can-do attitude and a wonderful disposition.”

Advocate for All

Over the years, Raskin turned her advocacy on behalf of Ben into a broader effort. She joined with other parents of children with HI, first to be a part of a listserv and then, in 2005, to found Congenital Hyperinsulinism International (CHI). CHI’s top priority is to advocate on behalf of those with HI.

Through its website and its social media channels, CHI provides a virtual vehicle for support and information to families. Knowing that Ben’s delayed diagnosis is a common experience for newborns with HI, CHI also works tirelessly to inform the broader medical community about HI, its signs and treatments.

“Timely diagnosis is extremely important,” says Raskin, Executive Director of CHI. “It can mean the difference between severe disability or living unscathed by developmental challenges.”

CHI also funds HI research and recently launched the HI Global Registry, in collaboration with the National Organization for Rare Disorders (NORD). The registry’s goal is to advance the understanding of HI by studying the experience of those who live with it. The registry will also support clinical trials and other research studies in the field of HI.

“We are really excited about including patient families in better understanding the condition,” Julie says. “Our HI Global Registry slogan is ‘I’m a researcher, too!’”

Internally, CHI is working to create standards that would lead to the certification of Centers of Excellence for treating HI.

“Some centers, like the one at CHOP, do an excellent job and have great outcomes,” says Raskin. “But there are a lot of hospitals that do not really understand HI and might not have the expertise patients need. The Center of Excellence designation, which any center anywhere in the world could apply for, would give patient families and insurance companies the knowledge they need to make good decisions on where to go for treatment.”

Bringing families together

CHI also partners with CHOP’s HI Center to sponsor family conferences, when families from all over the United States, and even the world, come together to learn about the latest research and new treatments and to share their experiences.

Because HI is so rare — 1 in about 50,000 live births — the conference is frequently the only time families get to meet another family that has a child with HI.

“The HI lifestyle, with its constant worries about lows and brain damage, sometimes sets us apart from our local communities,” Julie says. “When we get together at conferences, it’s like coming home to an extended family that gets it.”