Targeted Therapy Turns Life Around for Children with Neonatal Diabetes

First US forum gathers doctors and children who no longer need insulin

Lilly Jaffe

Until a couple of years ago, meals in the Jaffe household involved math
to calculate Lilly’s carbs and compute her insulin needs. Family outings were never completely worry-free because Lilly’s blood sugar levels could rise or fall to dangerous highs or lows unexpectedly. Diagnosed when she was just a month old, Lilly’s life revolved around insulin shots or her insulin pump

And then Lilly’s life changed.

Lou Philipson, a University of Chicago endocrinologist, determined that Lilly suffered from an unusual form of diabetes caused by a genetic mutation rather than the errant immune system responsible for type 1 diabetes. Based on emerging research about this form of diabetes, Lilly's family found hope that she could live a life free of insulin dependence and diabetes complications.

Research suggested that "monogenic" diabetes could be controlled with pills, simplifying disease management and improving long-term prognosis. Patients would still need to monitor blood glucose, although much less often. Instead of frequent insulin injections, they could take pills twice a day.

The Jaffes (from left ) Charlotte, Laurie, Nathan, Lilly and Michael stand with Lou Philipson, MD, outside the Clinical Research Center.

After undergoing treatment at the Medical Center, Lilly was able to disconnect her insulin pump. Lilly's mother, Laurie Jaffe, shared her family's story, which she calls "The Unfolding of a Miracle" at "Celebrating the Miracles," a University of Chicago symposium for patients, parents and physicians.

The first Monogenic Diabetes Forum -- Thursday, July 8, to Friday, July 9 -- is designed to review scientific studies, celebrate treatment successes, stress the importance of a genetic diagnosis for children diagnosed before age one, and exchange tips on how to make the most of a new concept--life without insulin injections.

A separate symposium for physicians and scientists on clinical, biomedical and genetic advances follows on Saturday, July 10.

“The Unfolding of a Miracle”

By Laurie A. Jaffe

Hello friends, welcome to Chicago! This day is a dream come true. It is fantastic to meet you and put faces to all your stories.

We have publicly shared our family’s journey many times, but I am especially excited for chance to share it you–-- the other miracle families, who can fully relate to our experience. As we share our daughter’s story this afternoon, we also celebrate each of yours… the journeys of families, babies, young children, teenagers, siblings, fathers and daughters, mother and son, young adults -- all now free from a lifetime of insulin dependence and diabetes complications.

I can’t imagine a place in the world where there are more collective miracles than are gathered in this room. Our friends at the University of Chicago have told us that despite decades of genetic research, this is the only such research to yield a real cure for a medical condition. There is none other that has dramatically and immediately affected peoples’ lives like this breakthrough in genetics. We are truly part of something historic.

Our journey began January 28, 2000 when Lilly was born. Our dream for a family had come true. Our 19 month old son had a sister and we had our longed for baby girl. She was healthy, sweet and beautiful. Life couldn’t have been better. Yet in an instant, we plummeted from pure joy, to the heartbreak and challenge of parenting an infant with diabetes. By fluke, Lilly was diagnosed through a routine urine test at her one month check up. That day our lives changed completely. » Read the entire speech (PDF)