For Rianna, 19 years of tracking her blood sugars has been like a trek through the mountains: the highest highs and the lowest lows, with plateaus in between. That’s how it is when you have congenital hyperinsulinism (HI) and need a near-total pancreatectomy to control the disease.
Rianna, from Plainview, NY, was diagnosed with diffuse congenital hyperinsulinism at 10 days of age. Hyperinsulinism is a disorder in which the pancreas secretes too much insulin rather than too little, as in diabetes. Too much insulin in the body causes blood sugar to drop to dangerous levels. This can impair the baby’s brain function and in some cases can be life-threatening. Low blood sugar is called hypoglycemia. Congenital hyperinsulinism is rare; it affects 1 in 50,000 new babies worldwide every year.
Rianna was referred to The Children’s Hospital of Philadelphia, home to one of the only comprehensive centers in the world dedicated to congenital hyperinsulinism. The center’s multidisciplinary team has extensive experience treating children with the disorder.
When traditional drug therapies were unable to control Rianna’s HI, surgeons at The Children’s Hospital of Philadelphia performed a pancreatectomy, an operation that removed 98 percent of her pancreas. The surgery made her hyperinsulinism much more manageable, and a controlled diet — supplemented by GI tube feedings — kept her from suffering seizures and other complications that could have affected her development.
Although removing part of the pancreas helps in the management of HI, children who have had a pancreatectomy are more likely to develop type 1 diabetes. When Rianna turned 11, she started experiencing high blood sugar – an indication of diabetes - which was controlled through medications. The 2 percent of her pancreas that remained produced enough natural insulin that she was able to avoid insulin injections until she turned 16.
As she has done since she was small, Rianna, now 19, continues to take control of her care. She’s on an insulin pump to help keep her blood glucose levels within the target range. The pump works by delivering insulin 24 hours a day through a catheter placed under the skin. She counts carbs and monitors her glucose. “I’ve been pretty independent since I was 11, when I started e-mailing my doctors directly and making my own appointments,” she says. “My mom always taught me, ‘This is your life, your health. You need to take care of yourself.’”
“I’m a firm believer that kids need to understand the basic fundamentals of their disease,” says Rianna’s mother Amy. “By 3, she was testing her own blood. By 7 or 8, she was setting up the pump for her tube feeds at night. I felt she needed to be as independent as possible.”
Rianna shares her experience with younger HI patients through a Yahoo group she started to open a discussion among kids with HI. “We have members from all over. I provide mentoring and try to answer questions from my own experiences,” she says. She often receives notes from members sharing their experiences about how they have successfully dealt with HI.
Rianna’s vibrant personality, her sense of humor and the support of her family, friends and the medical experts at CHOP, have helped her through every step in her journey – a journey she has very much enjoyed. Even her time at the Hospital was filled with happy memories. She not only loved the doctors and nurses who cared for her, but enjoyed spending time with the child life specialists, the environmental services staff and the food service staff who cared for her and her family.
Rianna’s HI has never slowed her down. She loves to read, knit and hike. She’s a junior at Muhlenberg College, where she is majoring in Anthropology with a minor in Public Health. “I am interested in learning about how people look at the concept of health and illness as it relates to childhood,” she says.
This fall, she will be studying in England. She plans to visit Great Ormond Street Hospital for Children (GOSH) in London and to meet the doctors she’s gotten to know and admire through the HI Family Conference – an international meeting held every three to four years. This year’s conference was hosted at The Children's Hospital of Philadelphia, and attended by experts in the treatment of HI from around the world.
As for follow-up for her condition, Rianna sees an endocrinologist and a diabetes educator once a year in New York. She comes to CHOP as needed. Physicians at CHOP coordinate care with Rianna’s physicians in New York.
“I love it at CHOP,” she says. “When I tell my friends I’m going to the hospital, they say, ‘That’s too bad.’ I tell them, ‘No, it’s great there. I always have such a good time.’ Since I’ve been coming to CHOP for so many years, I know so many people, and it’s always good to see them again.”
This summer (2012), Rianna is volunteering her time in the Hospital she loves, doing a job that has special meaning to her. She’s working in the De Leon Lab at CHOP where researchers are focused on discovering new therapies for congenital hyperinsulinism.
It is this relentless pursuit of scientific discovery that has led to advances like the use of the 18F-DOPA PET scan. This innovative imaging technique helps surgeons pinpoint abnormal tissue and focal lesions, sparing healthy cells in the pancreas, significantly reducing the risks of diabetes in patients with focal HI, and potentially leading to a cure.
Rianna has good reason to believe that when new and better treatments are developed, it will be right here at CHOP – and she is proud to be part of the work that may help all kids born with HI live healthier lives.