Fourteen-year-old Karine has received two insulin injections per day for as long as she can remember. Soon after birth she was diagnosed with juvenile onset diabetes, also known as insulin dependent or type I diabetes, which results in an inability to produce insulin. New testing at the Montreal Children's Hospital of the MUHC recently revealed that Karine has an extremely rare form of diabetes that responds to a class of drugs used to treat type II diabetes. This treatment switch has allowed Karine to stop insulin injections and has led to a significant improvement in her health.
"This form of diabetes starts very early in life and shares the same symptoms as regular type I diabetes," says Dr. Polychronakos, Director of Pediatric Endocrinology at the Montreal Children's Hospital of the MUHC and a professor in the Departments of Pediatrics and Human Genetics at McGill. "However, the causes are different so the disease responds to treatments that would not normally work for type I diabetes."
This new form of diabetes involves the mutation of a single gene, which can now be verified through a routine DNA test on a small sample of blood. "Earlier this year we began blood testing all our diabetic patients at the Children's," notes Dr. Polychronakos. "Karine was the only confirmed case of the 400 diabetics tested."
Switching from insulin injections to oral medication can result in significant health improvements. "Insulin injections are unpleasant, especially for a child, and often involve guesswork