Lilly’s Law: A Diabetes Registry for Illinois

Lilly Jaffe in 2006

Lilly Jaffe in 2006

Three years ago, University of Chicago Medical Center physicians spotted an unusual genetic mutation in 6-year-old Lilly Jaffe – a finding that meant the girl could switch from painful insulin injections to pills as a means of controlling her Type I diabetes. Last Friday, Illinois Governor Pat Quinn signed a state bill bearing Lilly’s name, which will establish the first mandated statewide diabetes registry in the United States, an effort that researchers hope will help more diabetic children receive the proper treatment for their disease and help decode previously-unknown genetic causes of diabetes.

Illinois House Bill 2481, known unofficially as Lilly’s Law, originated with Rep. Tom Cross (R-Oswego) and passed both houses of the Illinois General Assembly by unanimous vote — no small achievement in the state’s current political climate. The bill establishes a registry of Illinois children diagnosed with neonatal diabetes before the age of 12 months, to be used by clinicians and diabetes researchers. Physicians will now be required to report any such cases to the Illinois Department of Public Health and, if the family agrees, will also report results of lab tests that measure blood sugar control in the diabetic children.

Dr. Louis Philipson, medical director of the Kovler Diabetes Center at the University of Chicago, helped Cross craft the bill along with U. of C. professor of medicine and human genetics Graeme Bell, and Dr. Siri Atma Greeley, instructor in pediatric endocrinology. Philipson said the registry will be beneficial in both the clinic and the laboratory, helping doctors connect children with the most appropriate and least disruptive treatments, while also pointing scientists toward potential new genes that underlie neonatal diabetes.

“There’s a double benefit here,” said Dr. Louis Philipson, medical director of the Kovler Diabetes Center at the University of Chicago. “It will not only help patients, but we can also learn more about the various genes that cause diabetes.”

Lilly’s case was a clinical application of genetic research with life-changing consequences. While most cases of neonatal diabetes are caused by an autoimmune response, a genetic test found that Lilly had a rare mutation in a gene controlling insulin release, a mutation discovered in 2004 by British scientist Andrew Hattersley and first shown in 2006 to be treatable with pills. Her unique case was, in a way, good fortune, as it allowed doctors to prescribe her oral medication to replace the insulin pump the little girl had been forced to use for most of her life.

That inspirational story was only the beginning. Media coverage of Lilly’s case, including a front-page story by late, great Chicago Tribune reporter Peter Gorner, caught the attention of more families with diabetic children who wondered if their diabetes was caused by a genetic mutation, a condition known as monogenic diabetes. Lilly’s type of mutation is thought to be present in as few as 2,000 people in the United States, but within a year of Gorner’s story, 13 more children had been switched to oral medication by U. of C. doctors. Other patients brought to the attention of Philipson and Bell were found to carry different mutations that caused diabetes, one of which was described in a 2007 paper. At this point over 70 children in the United States and even a handful of adults have transitioned from insulin dependence to pills…from Alaska and California to Florida, Washington, DC and states in between.

To help organize the hundreds of patients who were genetically tested for potential mutations associated with diabetes, the Kovler Diabetes Center established their own Neonatal Diabetes Mellitus Registry, organized by Dr. Greeley with support from the Juvenile Diabetes Research Foundation International. Now, with the establishment of a statewide registry, Philipson hopes that even more patients eligible for new treatment will be found. Such patients may also present new mutations for diabetes research, or carry mutations found to cause diabetes in laboratory animals (such as this potassium channel mutation published in 2007) but never seen in humans due to their rarity, he said.

Laurie Jaffe, Lilly’s mother, said she was hopeful that the registry would make a difference in the lives of many families with diabetic children.

“This was a true medical miracle for which we are eternally grateful,” Jaffe said. “Now that HB 2481 is law, children with monogenic diabetes like Lilly can be spared a traumatic childhood of insulin dependence.”

The performance of the Lilly’s Law registry, which has been approved as a three-year pilot program, may lead to more comprehensive diabetes registries that can help track wider diabetic populations for clinical, public health and research purposes. In recent years, New York City and San Antonio have created registries for the reporting of lab tests measuring blood sugar control, efforts that have helped public health officials and doctors localize care and education where it appears most sorely needed, despite some legal observers raising privacy concerns. Some of the information reported in the Illinois registry created by Lilly’s law will be optional, Philipson and a spokeswoman for Rep. Cross said.

“This registry could facilitate an awareness from a public health point of view of where new cases of diabetes are arising to a clinical perspective on how primary care physicians are managing diabetes,” Philipson said. “The bill is just the beginning, the very, very tip of the iceberg for Illinois.”

About Rob Mitchum (526 Articles)

Rob Mitchum is communications manager at the Computation Institute, a joint initiative between The University of Chicago and Argonne National Laboratory.

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