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Molecular Medicine And Diabetes

by with diabetes," said her mother. "We were thankful that she was diagnosed early, and she has developed beautifully, but from that day on, our lives were forever changed. We could never let our guard down, having to monitor her closely and constantly. That meant glucose checks ten times a day, even at night, and three-to-five daily insulin injections, not to mention analyzing every bite she ate."

Two years ago Lilly had two nighttime seizures, caused by low glucose. "It's sobering," said Jaffe, "dealing with that kind of fragility and intensity day after day."

An insulin pump helped prevent further seizures, but over the summer the Jaffes worried about Lilly's imminent transition from half-day kindergarten, with frequent visits with the school nurse, to a full school day in first grade.

Meanwhile, on June 17, the University of Chicago brought Andrew Hattersley to Chicago to lecture on "Molecular genetics: a new clinical tool for the diabetes clinic."

Philipson helped organize and attended his talk. Nine days later, on June 26, he included a brief summary of Hattersley's work in a presentation he gave to the local chapter of the Juvenile Diabetes Research Foundation. After the talk, Michael Jaffe--a member of the JDRF's executive committee and Lilly's father--approached Philipson and told him about his daughter.

Philipson told his colleague Graeme Bell, professor of medicine and human genetics at the University who had been involved in the first such US case, two years ago at Loma Linda Hospital in California, just published in July. They agreed to test Lilly's DNA. Bell FedExed a DNA sampling kit to the Jaffes.

"Lilly spit in the cup and we sent it back and tried to forget about it," said Laurie Jaffe. "This disease is an emotional roller coaster. We had been through enough. We were determined not to get too excited."

Because of the early age of onset, their pediatric endocrinologis
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