Families discover a Type 1 diabetes miracle

Thirteen years ago Friday, our daughter disconnected her insulin pump for the last time — an unexpected and breathtaking miracle. Her story spread across the globe, changing the lives of many who discovered that they, too, have a rare kind of diabetes — one that freed them from dependence on insulin. These people have become family.

Insulin was Lilly’s lifeline from the time she was 1 month old and diagnosed with what doctors only knew to call Type 1 diabetes. My husband, Mike, and I were devastated, but we quickly shifted gears to care for her. We learned how to prick her tiny heels to test her blood sugar, monitor her carbohydrate intake and give her insulin shots, day and night. It was a daunting job. We prayed and began to work for a cure.

In June 2006, our lives changed forever. Mike attended a Chicago JDRF (previously known as the Juvenile Diabetes Research Foundation) meeting where Dr. Lou Philipson, director of the University of Chicago Medicine Kovler Diabetes Center, was speaking. He highlighted a seminal study that would soon be published in the New England Journal of Medicine. Researchers reported that babies diagnosed within the first six months rarely have Type 1 diabetes, but instead have a form caused by a genetic mutation. The most extraordinary finding, however, was that the best treatment is an inexpensive oral medication, not insulin.

Amazed, Mike approached Dr. Philipson and told him about Lilly. The doctor recommended genetic testing, and the rest is medical history, as first reported by the late Peter Gorner in the Chicago Tribune. She tested positive for the mutation and was rediagnosed as having a newly understood form of diabetes called “monogenic diabetes.”

Over days, we experienced the gradual unfolding of a miracle as she transitioned from dependence on insulin to taking oral medication. It was surreal and fantastic to witness Lilly disconnect her insulin pump for the last time and then celebrate with a big bowl of ice cream.

Within weeks, the Tribune piece reached 13 grateful families from around the country whose children were also able to switch their treatment from insulin to pills. Those parents reached out to me with questions and concerns. We all were pioneers trying to navigate uncharted territory. Friendships grew and bonds formed as we began introducing families to each other. Soon we established a lively email discussion group.

Word continued to spread through the media and internet, the miracles multiplied and our group grew beyond the U.S. The conversations among parents provided researchers at the Kovler Diabetes Center with critical insights into monogenic diabetes.

It became clear that bringing together families and researchers would be invaluable. In 2010, the “Celebrating Miracles” family conferences were born. Under the leadership of the Kovler Diabetes Center, hundreds from around the world have eagerly convened in Chicago every three years since then. Just a few weeks ago, we held our fourth meeting. It was a love fest among families and the doctors who care for them, as well as a catapult for research.

The miracles continue to astound us, and this summer one unfolded before our eyes. A California family came to the conference to learn more about their son’s recent diagnosis of monogenic diabetes. His mother had been diagnosed with diabetes and on insulin for many years. Genetic testing had been done, but her endocrinologist had filed the results away. When she arrived at the Chicago meeting, however, our doctors revealed the jaw-dropping results: Like her son, she also has monogenic diabetes and does not need to take insulin. After 15 years, she stopped taking shots that very day.

It is tempting to muse about the “what ifs,” but we know that nothing happens by chance. This journey is part of a greater plan that we have only begun to understand. In the meantime, it is humbling and rewarding to be a part of this movement that continues to change lives and enrich science.

Jaffe is a founding Leadership Board member of the University of Chicago Medicine Kovler Diabetes Center and co-executive producer of the award-winning documentary “Journey to a Miracle: Freedom from Insulin,” which aired on PBS stations nationwide. This op-ed was distributed by Tribune Content Agency, LLC.