The documentary Journey to a Miracle: Freedom From Insulin, which was released in January, tells the story of several parents who discovered their children had monogenic diabetes, a rare form of diabetes caused by genetic mutations. The diagnosis allowed the kids to swap insulin for oral medications, radically changing their lives. The film also tells the story of the science, highlighting the researchers and doctors who played an integral role in breakthrough studies on and treatment of monogenic diabetes. It documents the beginning of what many hope is a greater awareness of the rare disease.
But for executive producers Laurie and Michael Jaffe, everything began with their baby, and the first of two earth-shaking diagnoses.
Type 1 Diagnosis
Lilly was born a happy and healthy girl in the suburbs of Chicago. She was a very easy baby in her first few weeks of life, but soon Laurie Jaffe began to notice a change in her daughter. Lilly became irritable, and her diapers were constantly heavy with urine. Then, at her one-month checkup, Lilly had a routine test that came back positive for glucose in her urine. Thinking it was a fluke but being thorough, the doctor ordered a blood test for Lilly at the hospital across the street.
“By the time I arrived home [with Lilly], my husband was on the phone with the pediatrician, who had just diagnosed her as having type 1 diabetes,” says Jaffe. From there, everything changed. “Like any parent with that diagnosis, you just feel absolutely devastated,” she says.
The struggle to care for a baby with type 1 diabetes was difficult: Lilly was too young to understand why she needed an insulin shot with her food, and her fingers were so tiny they had to prick her heel to test her blood glucose. But despite the challenges, the family settled into a routine.
All of that changed in an instant.
One night, when Lilly was 4 years old, she went into her parents’ room and crawled into bed, saying she had a nightmare.
“After a few minutes, I heard these groans that I had never ever heard before,” says Jaffe. She realized Lilly was having a seizure and worked quickly to try to bring her out of it.
Jaffe massaged cake frosting gel into Lilly’s gums so she could absorb the sugar and combat hypoglycemia. Lilly gradually came out of the low and seemed to be fine. Three months later, however, she had another seizure, pushing her pediatrician to recommend an insulin pump.
Jaffe says the insulin pump changed things for the better, but there were still struggles. When it was time to put in the infusion set, Lilly would run away from her, because it hurt. And Lilly was too young to operate her pump alone.
Like other parents caring for a child with type 1 diabetes, Jaffe had to count Lilly’s carbs and deliver bolus insulin with the pump. Lilly was completely dependent on her mom. Jaffe would tag along to birthday parties to see how much birthday cake Lilly ate in order to calculate the insulin needed to cover the carbohydrate grams. “She was tethered to her pump, but she was also tethered to her mother,” says Jaffe.
A few years later, Michael Jaffe had become involved with the JDRF, a type 1 research foundation, and was attending a research update meeting in Chicago. Louis Philipson, MD, PhD, FACP, a professor of medicine and the pediatrics director at the University of Chicago’s Kovler Diabetes Center, was speaking about a rare genetic form of diabetes in children diagnosed at 6 months or younger. Rather than having type 1 diabetes, most of them had a genetic mutation, which is most effectively treated with sulfonylureas, a class of oral type 2 diabetes medications.
Michael Jaffe was the only person in that room of 200 whose infant had been diagnosed with diabetes. He spoke with Philipson, who immediately became involved in Lilly’s care and ordered a DNA test. The results came back: Lilly had one of the more common types of monogenic neonatal diabetes.
This changed everything. Again.
The upside to the new diagnosis was that Lilly could eventually replace her insulin injections with oral medication. But getting there was a process.
For starters, the protocol for weaning children off insulin and putting them on sulfonylureas was virtually unknown in the United States. Philipson contacted experts based in England, who worked with him to gradually decrease Lilly’s insulin and increase her oral medication. And then, finally, Philipson gave the OK for the Jaffes to disconnect Lilly’s pump. “I thought it was really important, and it would be empowering for Lilly to disconnect her pump herself,” says Jaffe.
On Aug. 23, 2006, when Lilly was 6½ years old, she removed her pump. “It was surreal when she handed her pump to me and I put it in the closet, because it had been her lifeline,” says Jaffe.To celebrate, Lilly enjoyed a big bowl of ice cream, which was exciting but unnerving for the Jaffes. About an hour later, Jaffe tested Lilly’s blood glucose. “I just about fell off my chair,” she says, “because she had absolutely normal blood sugar.”
What’s In a Name?
There are many forms of monogenic diabetes, but all occur due to a mutation in one of more than 20 genes that control the body’s ability to produce insulin. Most people with these forms have healthy insulin-producing cells, but a key potassium channel will not open and close properly, which prevents the body from producing insulin. Through decades of research across the globe, researchers were able to connect the dots to sulfonylureas, which effectively bypass this mutation. In some cases, children will even see a variety of developmental and cognitive challenges, such as walking and talking, improve when they switch medications.
The different form of monogenic diabetes can present at different ages and are grouped based on when a person was first diagnosed with diabetes. Neonatal diabetes is diagnosed in children who are 6 months old or younger and is almost always due to a genetic mutation. Maturity onset diabetes of the young (MODY) occurs from a young age into early adulthood. Depending on the specific mutation, these types of diabetes may be treatable with diet and/or sulfonylureas.
The only way to get an accurate diagnosis is through genetic testing, using either blood or saliva, which doesn’t usually occur when diagnosing diabetes.
The Lilly Effect
After Lilly went off insulin, the Jaffes began sharing their story with the media in order to raise awareness with the public and within the medical community. The initial story, which was published in the Chicago Tribune in 2006, changed the lives of 13 children in the United States, who were able to go off insulin.
The exposure led to several developments, including the United States’s first neonatal diabetes registry, a voluntary record of diabetes diagnoses in children under age 1. It was developed by the University of Chicago and sponsored by the American Diabetes Association and the JDRF. The goal is to study people with monogenic diabetes in order to better understand the condition.
In 2009, Lilly’s Law was established in the state of Illinois. This requires physicians in Illinois to register children diagnosed with diabetes at age 1 or under with the state department of public health, which also taps into the University of Chicago’s registry.
Which brings us to the documentary. It took five years to make, premiered on a local Chicago TV station on Jan. 25, 2015, and is now airing on PBS. Despite having no filmmaking experience—Michael owns a commercial real estate business, and Laurie has a background in communications—the Jaffes felt called to make the documentary. They hope the film will reach those who may not know this type of diabetes exists or think it’s too rare to consider—including doctors. “When you look at the number of people that are out there statistically,” Jaffe says, “there is a good possibility that every endocrinologist has patients in their practice that could be helped.”
- The University of Chicago Kovler Diabetes Center: monogenicdiabetes.org
- The University of Chicago Neonatal Diabetes Registry: monogenicdiabetes.uchicago.edu/neonatal-registry
- Diabetes Genes: diabetesgenes.org
- University of Oxford Department of Physiology, Anatomy, and Genetics: www.dpag.ox.ac.uk
- National Institute of Diabetes and Digestive and Kidney Diseases: diabetes.niddk.nih.gov
- MODY awareness.com: modyawareness.com