Lilly Jaffe was only a month old when she came to know the prick of a needle.
Nine years later, she became the catalyst for passing an Illinois law — the first of its kind in the nation — to establish a statewide registry for a rare form of diabetes.
Mistakenly diagnosed with type 1 diabetes, Lilly had received multiple daily insulin injections before getting an insulin pump that required inserting a long needle under her skin.
Dangerously low blood sugars induced two nighttime seizures when she was 4 years old.
Four years ago, an unexpected turn of events unfolded for Lilly that resulted in her being able to go off insulin and be treated simply with pills.
It started when her parents, Laurie and Mike Jaffe, who live in Chicago and are members of the Illinois Juvenile Diabetes Foundation board, heard about a study published in the New England Journal of Medicine by Dr. Louis Philipson, medical director of the Kovler Diabetes Center at the University of Chicago. It asserted some children diagnosed with type 1 diabetes in the first six months of their lives were born with an unusual mutation that causes insulin-producing cells to function abnormally. This form of diabetes is called monogenic diabetes, according to the National Diabetes Information Clearinghouse.
A saliva DNA test confirmed Lilly, now 10, was one of those individuals misdiagnosed with type 1 diabetes. Instead, she had monogenic diabetes. If a diagnosis based on genetic testing is not made, people with monogenic diabetes may appear to have type 1 or type 2 diabetes.
Her doctor put her on a regimen of two glyburide pills twice daily, and when Lilly started attending first grade, she was insulin-free for the first time in her six years of life. Her newly gained independence allowed Lilly to disconnect herself from her insulin pump.
Pills not for everyone
Hopes for getting off insulin because of this misdiagnosis need to be tempered, said Dr. Mike Wood, pediatric endocrinologist at Spectrum Health’s Helen DeVos Children’s Hospital. Even those diagnosed with monogenic diabetes still may need to take insulin the rest of their lives if they do not respond to the anti-diabetic medications, he said.
Compounding the problem is getting the screening tests covered by insurance companies, he said.
“I would say our biggest challenge, up to probably a few years ago, was getting everyone to recognize these conditions and screen for it,” Wood said. “Especially in the past five to 10 years, we know more about diabetes and how this whole thing is put together and, in an ideal world, the tests wouldn’t cost anything. Unfortunately, these tests cost a lot of money. Occasionally, I can get a test done when I talk with the medical director of an insurance company.”
Now that more doctors and scientists better understand the genetics of monogenic diabetes, treatment could be administered earlier in a patient’s life, Philipson said.
In August 2009, the Illinois governor signed what is known informally as Lilly’s Law. Physicians and other health care providers around the state are required to report children diagnosed with neonatal diabetes before the age of 12 months.
The goal is to connect these children with the most appropriate and least disruptive treatments, while also pointing scientists toward potential new genes that underlie neonatal diabetes.
Philipson said some diabetics with mutations also have neurological problems, a key reason he and his team have begun working with neurodevelopmental experts to understand the connection between diabetes and the brain.
Research is in its early stages.
“Because there are so few of these people around the world, we’re not sure what the spectrum of problems are and what the best treatment should be,” Philipson said.
At least monogenic diabetes is becoming better known among patients, parents and physicians, Philipson said.
“If a candidate can get gene-tested, that’s the best way to get them off insulin, and that’s a process we prefer to do in a hospital setting as we turn down the insulin and increase the pills,” he said. “You can tell in a few days if it’s going to work or not.
“But we have to be specific (about) who needs genetic testing.”
Jaffe said she knows her daughter’s quest to be insulin-free is not isolated.
“Parents are excited about the possibility of their children going off insulin,” said Laurie Jaffe, who is working on a documentary about their experience.
“It’s so life-changing, both in lifestyle and health consequences down the road, for people with diabetes. It’s such a huge breakthrough, and very few people know about it.”
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