Congenital Hyperinsulinism: Dominique’s story

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Dominique has been playing hide and seek with hyperinsulinism for 30 years, but it wasn’t until she came to Children’s Hospital of Philadelphia — as an adult — that she could finally say: Gotcha!

Dominique standing wearing a black dress It took the expertise of the Congenital Hyperinsulinism Center and its director, Diva D. De León-Crutchlow, MD, MSCE, to find the treatment path that has brought Dominique’s blood sugar levels to a manageable place and given her the tools to keep them there.

“I feel like I’ve gotten my life back,” a grateful Dominique says. “

Now she works as a supervisor for five care homes for individuals with developmental disabilities. “I know I can drive from one to another without any problems. I can do my job, see my friends, have a full life — because of Dr. De León,” says Dominique, 30.

Dominique had her first seizure when she was 6 months old, caused by severe hypoglycemia (low blood sugar). The local hospital in New York diagnosed her with hyperinsulinism (HI), a rare genetic condition when the pancreas produces too much insulin, which can drop blood glucose level to dangerous low levels. Doctors started her on diazoxide, the front-line medication. For most of her childhood, she managed her blood sugar levels with diazoxide, “although taking it is disgusting. It is nasty stuff,” she remembers.

Off diazoxide in her teens

As she went through puberty, she was able to go off diazoxide. Looking back, it might not have been the right decision. “I was always lethargic and required a lot of sleep to function — at least 10 hours,” she says. Around the same time, she was diagnosed with polycystic ovarian syndrome (PCOS).

“I thought I was doing OK,” she says. “But when I turned 21, my body started to change again, and things took a turn for the worse.”

She made the rounds to a handful of different endocrinologists in the New York City area, where she lives, but none could solve her particular problem. Hyperinsulinism is rare — with one case in 50,000 births — so it’s not surprising that they hadn’t treated an HI patient, especially one with PCOS.

School, work, social life impacted

The off and on low sugars were impacting her life. She was in nursing school while also working, and the demands were too much for her. “I had to move back in with my mom because of it,” she says.

Normally gregarious and outgoing, she found herself staying home. She was having hypoglycemic episodes where she would be sort of in a daze. “I’d be out with my friends, and they would talk to me and I’d answer, but I didn’t make any sense,” she says. “It freaked them out, which I understand. Sometimes I’d even black out. I’m a people person, but I stopped going out.”

During one particularly scary episode of hypoglycemia, she went unconscious for what must have been a couple of hours — and probably had a seizure. Her blood sugars were 34 this time, and she was hospitalized for eight days. She was put on intravenous glucose in between having tons of tests.

We can’t help, but CHOP can

“They told me, ‘You’re a rare case; we don’t see cases like you. We don’t know what to do,’” Dominique says. “And because of the blackouts, they were threatening to take my driver’s license away. I was losing control. I felt like giving up.”

What the New York endocrinologists did know was that CHOP has world-renown specialists for HI. The fact it was a pediatric hospital wasn’t a factor. “I told them, ‘If you say this is the doctor who can help me, I don’t care it’s a hospital for kids,’” she says.

The HI Center is one of several specialty centers at CHOP that treat adults because of their unapparelled expertise in rare conditions.

Once at CHOP, Dominique could sense the difference right away. “It was clear from the first appointment that they knew what they were doing,” she says.

Dr. De León started Dominique on lanreotide, a long-acting medication given by injection once a month that raises blood sugar levels. Initially, Dominique’s mother, who’s a nurse, gave her the shot, but Dominique’s learned how to administer it herself now.

“Lanreotide has made a huge difference,” she says. “I still may have some lows, but it is much, much more manageable. I get diarrhea the first day or two after a dose of lanreotide, but I just stay near home on those days. For me, it’s worth it. I feel so much better.”

Through the Hyperinsulinism Frontier Program Multidisciplinary Clinic, Dominique also sees gastroenterologist Asim Maqbool, MD, and nutritionist Lauren Cherry, MS, RD, LDN.

Because lanreotide can put her at risk for pancreatic insufficiency, Dr. Maqbool ensures her pancreas is functioning properly, making the hormones and enzymes needed for digestion, and that her liver and gall bladder are also in good shape.

Proper nutrition key to steadying blood sugars

Cherry helped Dominique understand the importance of a balanced diet, heavy on fruits, vegetables and complex carbohydrates. “I learned how important it was for me to eat consistently throughout the day, even if it’s just a small snack,” Dominique says. “Every day, I take a bag with me with healthy snacks like nuts and berries, along with my lunch. It’s all healthy stuff. I’ve lost some weight,/ and my BMI (body mass index) is down.”

Gone are white rice and French fries. “Now I eat only complex carbs like multigrain bread, brown rice and sweet potatoes,” she says. “They gradually bring my sugars up, not the up-down-up-down I used to feel with the carbs I used to eat.”

In the two-plus years Dominique has been coming to CHOP, her health has improved — and so has her future.

“I feel like I can talk to Dr. De León about anything,” she says. “We discussed a medical regimen I could follow if I got pregnant, since I know I want to have kids one day. Our relationship has gotten deeper and more complex. I trust her and (nurse) Nicole (Stewart, BSN, RN). If I have questions between appointments, I know I’ll get an answer.

“I was at a real low point before I came to CHOP. Now, for the first time, my blood sugar is well controlled, and I feel good. I’m excited about my future.”


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