When I arrived at The Children’s Hospital of Philadelphia with my 4-week-old daughter, Charlotte, I was relieved to finally be in a place that knew all about her rare condition, congenital hyperinsulinism (HI).
Our family had spent the first month of Charlotte’s life at our local hospital in California, searching for answers for what was causing Charlotte’s persistently low blood sugar levels. Once we learned it was HI, we realized we had to go to CHOP’s Congenital Hyperinsulinism Center, where doctors and staff would know how to help Charlotte.
The very first time I contacted the HI Center, which treats more patients with HI than any other hospital in North America, I started to find answers. Nurse practitioner Enyo Dzata, MSN, CRNP, explained HI and worked with me — and our family’s insurance company — to arrange for Charlotte to be treated in Philadelphia.
Once we were settled in the Hospital, Enyo and Andrew Palladino, MD, began to treat Charlotte, with the goal of finding a way to control Charlotte’s HI with medicine.
HI occurs in one in 50,000 births and is sort of the opposite of diabetes. Instead of the body not producing enough insulin to keep blood sugar from going too high, a child with HI produces way too much insulin, which causes a shortage of sugar in the blood.
Babies, especially, need sugar in their blood to fuel their rapidly growing brains, and dangerously low blood sugar can lead to seizures and, potentially, brain damage.
Finding the right treatment for Charlotte
For Charlotte’s type of HI, Dr. Palladino was treating her by giving her sugar water (dextrose) straight into her stomach and shots of a medication (octreotide) that suppresses insulin production. But she was still having sporadic lows.
Many HI babies with this problem have surgery to remove 98 percent of their pancreas, the organ that makes insulin. That mitigates the low-blood-sugar problem, but often creates another one: The child ultimately develops diabetes. And since any surgery can be risky and removing an organ is irreversible, I wanted to avoid surgery for Charlotte.
While the HI team was trying different doses and timing of medication on Charlotte, I was reading everything I could find on HI and reaching out to the HI community. That led to a connection with an HI specialist in Israel. I found out that in Israel, where doctors traditionally do everything possible to avoid surgery, some HI patients are medically managed by using a pump (like a wearable insulin pump) to deliver the medicine in a slow, steady drip.
Would this be a possible treatment path for Charlotte? If she kept her pancreas, we had the hope she could “grow into” her HI and — one day — be off medication, be able to regulate her blood sugar purely with diet and avoid diabetes.
Collaboration helps Charlotte avoid surgery
I approached Dr. Palladino, who knew of older kids on the pump, but hadn’t used it on any babies at CHOP. He was amazing. He wasn’t at all threatened by me talking with another doctor. On the contrary, he was open to trying a plan that would help us safely medically manage Charlotte’s HI.
It was tricky and took a multidisciplinary effort of the HI Center, the Diabetes Center and Pharmacy. We needed a lot of patience to work it out, but everyone collaborated and kept Charlotte’s best interests at the forefront.
Erin Winterhalter, MPH, RD, a diabetes educator, taught me how to use the pump. The doctors and I tweaked the dosing several times until we found a level that worked. Everyone worked together as a cohesive team and helped us on the path to home, without major surgery.
Back home and growing strong
Now we’re back home in California, and we are managing Charlotte’s HI with the combination of her pump, that delivers a continuous dose of the HI medicine during the day, and continuous dextrose, delivered through a gastrostomy tube overnight. She still has HI, but we have a medical management plan that’s livable.
Currently 8 months old, Charlotte is a happy baby and hitting her developmental milestones. I have the HI Center team — and their willingness to work with me — to thank for that.
By Elise Falk, December 2013