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Diabetes expert Dr. Louis Philipson stresses importance of accurate diagnosis

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Updated: October 18, 2013 2:25PM



I will never forget the phone call I made in 2006 to the parents of Lilly Jaffe, then a 6-year-old girl from Chicago who was diagnosed with Type 1 diabetes back when she was just 1 month old. She and her family had endured years of insulin injections and constant worries about blood sugar levels.

But that day, I was able to tell Lilly’s parents that she could control her diabetes by simply taking a pill. It was a miraculous moment. Our team had discovered that Lilly did not have Type 1 diabetes. Instead, she had monogenic diabetes, a rare form of the disease caused by a genetic mutation that can be corrected with a common oral medication.

Shortly after that phone call, Lilly made medical history as one of the first children in the United States to transition completely off insulin to pills. No more insulin pump. No more finger pricks to test her blood sugar. Through research and advances in medicine, we were able to give her independence.

Today, of the roughly 26 million Americans living with diabetes, up to an estimated 250,000 people could have monogenic diabetes. And a recent study of children with diabetes showed that 97 percent of these cases have been misdiagnosed as Type 1 or Type 2 diabetes.

The prevalence and chronic nature of the diabetes make understanding, treating and correctly diagnosing the disease critical. Accurate diagnosis means more effective therapies — which can be life-changing for those with diabetes who find out they have the monogenic form of the disease.

As a diabetes specialist and the director of the University of Chicago Medicine Kovler Diabetes Center, I am fortunate to be part of an era of medical science in which physicians truly can help improve the quality of life among patients with diabetes. And thanks to genetic testing, we can correctly diagnose most forms of monogenic diabetes.

Genetic testing is the only way to check for monogenic diabetes. Testing should be considered for anyone who already has diabetes if the diagnosis was made by age 1, if there is an extended family history of diabetes or if mildly elevated blood sugars are found during routine checkups. There are other symptoms, so please talk to your doctor if you fall into any of these categories.

My hope is that with continued research, patients with all forms of diabetes someday will get the same freedom.

Support the University of Chicago Medicine Kovler Diabetes Center’s research by purchasing tickets ($55) to the Striking Out Diabetes event, held at Lucky Strike Lanes (100 Yorktown Center, Lombard) on Sept. 22. For more information, visit Kovlerdiabetescenter.org.



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