Lilly Jaffe, of Chicago, was diagnosed with type 1 diabetes more than ten years ago, at the tender age of one month. What has happened to Lilly over the past few years is remarkable....
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In 2006, her parents Laurie and Mike -- longtime JDRF volunteers -- had attended the annual meeting of JDRF's Illinois Chapter, where Dr. Louis Philipson, of the University of Chicago, presented an update in diabetes research. He mentioned a study out of the U.K. that showed that some children diagnosed with diabetes in their first six months of life actually don't have type 1 autoimmune diabetes, but instead have diabetes characterized by a rare genetic mutation that in about half the cases can be treated with a common oral medication.
Mike approached Dr. Philipson and told him about Lilly -- who had been on a pump for two years by then. Since she fit the profile with her early diagnosis, she took a simple, saliva DNA test. The results came back in a few days -- Lilly was positive for one of these rare mutations.
A month after that, Lilly was admitted to the University of Chicago's Clinical Research Center to begin a week-long program to see if the oral treatment could work for her. She began a small dose of the medicine and her insulin dose was cut in half. Over the course of the week, her oral medication was increased each day, and her insulin dose was decreased. After a week, tests began showing that, indeed, Lilly had begun to produce insulin on her own -- for the first time in her six and half years of life!
The Jaffes left the hospital that night -- with Lilly still on a pump, but using dramatically less insulin. About five days later, the pump came off, and Lilly had taken the last insulin shot she'll ever need; that was four years ago. Since then well over 200 individuals around the world have been diagnosed with very similar mutations, close to 100 in the United States alone.
Philipson and his colleagues, particularly Dr. Graeme Bell who discovered several forms of monogenic diabetes, are actively studying such monogenic diabetes and would be interested in any inquiries via their website at www.kovlerdiabetescenter.org/registry.
More information about Lilly and several other stories about individuals with monogenic diabetes can be found at www.monogenicdiabetes.org.
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