From Personal to Public Advocacy: Ben’s Hyperinsulinism Story

From Personal to Public Advocacy: Ben’s Hyperinsulinism Story

From Personal to Public Advocacy: Ben’s Hyperinsulinism Story

Two days changed Ben Raskin-Gross’ future. For his first two days of life, his congenital hyperinsulinism (HI) went undetected, and the resulting extremely low blood sugar levels added many challenges to Ben’s life.

Ben smiling

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.

 

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.”

  • Video: Ben's Hyperinsulinism Story

    Julie Raskin, Ben's Mom: Ben was born and we were thrilled and excited. So Ben was nursing, and he was very upset and hungry and he wouldn't stop nursing and didn't take breaks. And all the other babies would nurse and then they'd sleep, and they'd nurse, and they'd sleep. And I was concerned. Suddenly, Ben was very lethargic, and he went from being very hungry to not being hungry at all and not nursing at all and was just sleeping.

    So, this shift and this difference was very strange and I was concerned. So, we went to our local hospital, and Ben had very low blood sugar upon arrival. A normal blood sugar is somewhere between 70 and 110, and when Ben was first brought to the emergency room, Ben's blood sugar didn't register. Hyperinsulinism is the overproduction of insulin, which causes severe low blood sugar, and the body needs sugar to grow and develop. And when a baby is born with hyperinsulinism, and there is the possibility, or in many cases, prolonged hypoglycemia that can cause brain damage or even death.

    And so, it's so important to intervene early, to diagnose early, and to treat early. Ben was not diagnosed at birth, and as a result of not being diagnosed at birth, Ben's body was deprived of the glucose that it needed for Ben's brain to grow and develop. And as a result of that, Ben's vision was affected. And so while Ben wears glasses, he's still is very challenged in terms of what he's able to see. And he does incredibly well with the vision that he has, but it's limiting. He also has issues with fine motor coordination and has some learning disabilities.

    Ben: Rather than … thinking of it as like some sort of barrier or anything like that, I think, I just think of it as a part of me.

    Julie: So, we learned that CHOP was the place to go for the condition. When we came to CHOP, we were embraced. We actually, when we first arrived, we, we were so surprised that hyperinsulinism was so well understood, and it was as if we weren't rare. We weren't unusual and what Ben had was common. We felt that so strongly when we got here, that rare was common, and that wasn't just reassuring in, in an emotional way but from a care perspective.

    Ben: Everyone here that we've worked with is really nice and we enjoy seeing them and like talking with them, and they've provided us with great care.

    Julie: It's so important to get to a center of excellence where the disease is understood, where the care is fantastic. And then, there is this possibility to go on and have, you know, a very healthy, very, very good life. We've been coming CHOP for 22 years and it's really a long time, and we have such a bond with this hospital. There are so many amazing people; they've taken such incredible care of our son, and we owe them the world. Our son has such an incredible life because of the incredible care he's gotten here.

    Ben: Right now, I'm a college student at Bryn Mawr College, a school designed for people who learn differently. It's a great place to challenge yourself and open yourself up to something that you don't think you would usually do.

    Julie: We owe CHOP the world, so you are not alone. There's a community of people living with hyperinsulinism. There are thousands of people around the world with hyperinsulinism, and together as a community we can move mountains. We can find better treatments; we can care for each other.

    Ben: It's a day-by-day thing, you know, like. It will get better and good things will happen to you. Good things are always happening.
Transcript Transcript

 

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.”