Molecular medicine comes to the rescue

On Monday, August 14, Lilly Jaffe, a six-year-old North Shore suburban girl who had been diagnosed with type 1 diabetes when she was one month old, checked into the Clinical Research Center at the University of Chicago Medical Center. On Friday, August 18, she checked out, starting to make her own insulin, well on her way to insulin independence and ready to get in a few days of beach time in Michigan before starting first grade.

As she continued to do well, her insulin was reduced day by day. The following Wednesday, August 23, with her doctors' direction, Lilly's mother disconnected her insulin pump--the lifeline and security blanket she had relied on for years--for the last time.

"She is so proud," said her mother, Laurie Jaffe, "so happy, so excited. She's just thrilled, for the first time to be like her friends and her brother and sister."

"It is a miracle," she added. "We are humbled by the scientific brilliance and by the amazing grace of God that brought this cure to Lilly."

"It was awesome," said her doctor, diabetes specialist Louis Philipson, professor of medicine at the University of Chicago. "It was cool," he added, with uncharacteristic abandon, "way cool."

It was also lucky. Lilly suffered from an unusual form of diabetes caused by a genetic mutation rather than the errant immune system responsible for type 1 diabetes. Such "monogenetic" forms of diabetes in children are just being recognized and studied.

Lilly is only the fourth such case treated in the United States and one of less than 100 in the world who have been successfully treated this way.

Researchers suspect there are about 2,000 people in the United States with neonatal diabetes who could benefit from the same treatment if precisely diagnosed and treated relatively early in life.

The take-home message, Philipson said, is that "anyone who has what appears to be type 1 diabetes with onset before the ag

Contact: John Easton
University of Chicago Medical Center

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