An intriguing film was shown at this year’s ADA Scientific Sessions in Boston. Journey of a Miracle: Freedom from Insulin tells the story of several families who had children who were diagnosed with type 1 diabetes, but actually had monogenic diabetes. Dr. Louis Philipson of the University of Chicago introduced the film to the standing-room-only crowd that packed into the room. Dr. Philipson supervised the development of the first registry for people with monogenic diabetes, which was funded in part by the American Diabetes Association. The film’s story highlights the importance of research and how it can change the lives of those living with disease.
Journey of a Miracle follows three families and the physicians and scientists who helped them. In each case, the diagnosis of type 1 happened in infancy. In one family, the infant’s diagnosis of monogenic diabetes led to the discovery of a three-generation link—both the child’s father and grandfather had been misdiagnosed as type 1 as well, and now all three have transitioned away from insulin therapy to an oral medication. “When I found out I could transition off insulin, I almost couldn’t believe it,” said Scott Moynihan, who was diagnosed as a baby. “I’ve never known anything else other than being a type 1 diabetic. It’s defined my life, so the whole idea of not being on insulin was just very foreign to me.”
“While there are far fewer people with this form of diabetes than have type 1 or type 2 diabetes, there’s still an enormous number of people in the United States alone that have one of these forms of diabetes. We estimate somewhere between 250,000 and 500,000 people in the US and upwards of 5 million people throughout the world have one of these forms of diabetes,” Dr. Philipson said. He also estimates that ninety-five percent of cases are misdiagnosed.
There is more than one form of monogenic diabetes, and they are generally grouped based on the age of the person when they were first diagnosed, regardless of current age:
- Neonatal diabetes, typically diagnosed at six months or younger
- Maturity Onset Diabetes of the Young (MODY), affects young children into early adulthood
Monogenic diabetes is the result of a mutation of a single gene that controls the body’s ability to make insulin. By taking a medication called sulfonylurea, the channel is able to open and close normally, and insulin is produced. While people will need to take this medication for the rest of their lives, they are no longer dependent on insulin and no longer have to count carbs or check their blood sugar.
The only way to properly diagnose it is through genetic testing, which is analyzed through a blood or saliva sample. To date, the patient registry contains information on more than 1,000 families, of which 350 have been diagnosed with a form of monogenic diabetes. In addition, “Lilly’s Law” (named after one of the girls featured in the film) was established in Illinois in 2009, and requires all children there who were diagnosed with diabetes prior their first birthday to be registered with the state’s department of public health for a pilot program to better understand the cause of the disease.
They recommended people who match the following criteria consult their healthcare provider about getting tested for monogenic diabetes:
- Anyone who was less than 12 months old when diagnosed with diabetes
- People with 3 or more consecutive generations of diabetes in their family history
- People with stable, mildly elevated blood sugars, often found incidentally during routine check-ups
- If, at the time of diagnosis, you tested negative for the autoantibodies that typically indicate T1D (antibodies typically tested include one or more of the following: GAD65, islet cell or ICA, IA-2, insulin, ZnT8)
- Patients diagnosed with type 2 diabetes who are of normal weight or not significantly overweight and show no signs of insulin resistance
- Diabetes paired with pancreatic insufficiency (digestive role of the pancreas is impaired with symptoms like diarrhea and gas)
- Individual or family history of diabetes paired with developmental kidney disease or other abnormalities of the kidney, such as cysts
An international effort, the Journey to a Miracle took five years to complete and researchers from 8 countries were consulted, and dozens of families affected by the disease were interviewed. The film was shown each day over the course of the Scientific Sessions—and every time, passersby were drawn to the room, curious as to what session had crowds spilling into the hallway. It was certainly a unique topic that stood out among the many presentations outlined in the 450-page program guide handed to conference participants.
To learn more, please visit the University of Chicago’s Kovler Diabetes Center.