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Lilly Jaffe, a North Shore suburban girl who had been diagnosed with type 1 diabetes when she was just one month old, is now insulin independent. “She is so proud,” said her mother, Laurie Jaffe, “So happy and excited. For the first time in her life, she can be like her friends and her brother and sister.”
Lilly’s story began at our Annual Meeting on June 26, 2006. Lilly’s father, Mike – a member of JDRF’s Executive Committee -- came to hear Dr. Louis Philipson, Director of the University of Chicago Comprehensive Diabetes Center speak about advances in diabetes research. During his presentation, Dr. Philipson referenced a recent discovery in children, like Lilly, who were diagnosed with diabetes before the age of six months. A team led by Andrew Hattersley, of Peninsula University in the United Kingdom, was studying specific genes in patients diagnosed at this very young age, which accounts for about one-tenth of a percent (1 in 1,000) of all type 1 diabetics. His research demonstrated that approximately one out of 200,000 newborns have a mutation in one of two critical genes that work together to form a channel that regulates the flow of potassium ions in and out of the insulin-producing beta cell.
Mike heard Dr. Philipson mention this discovery, and immediately scanned the room to see if anyone else picked up this interesting fact. At the end of the meeting, he quickly approached Dr. Philipson and told him that Lilly was only a month old when she was diagnosed with diabetes. The Jaffes were immediately connected with the research team at the University of Chicago. After Dr. Philipson’s colleagues heard about Lilly, they agreed to test her DNA, and sent a sampling kit to the Jaffes just before they left for a summer vacation in Michigan. Lilly spit in the little cup, sent it to University of Chicago, and the family waited anxiously for the results.
The call came from the lab less than two weeks later later, confirming that Lilly had tested positive for the mutation discovered by the researchers in the UK. Through this simple test, they found that she suffers from this unusual form of diabetes caused by a genetic mutation, rather than the errant immune system responsible for type 1 diabetes.
In a normal beta cell, glucose metabolism results in increased levels of ATP, a molecule that cells use to store energy. The increase in ATP causes the potassium channel to close. After it closes, potassium ions accumulate within the cell. When they reach a certain level, they trigger the opening of calcium channels. Calcium ions flow in and the cell responds by secreting insulin. Mutations, such as Lilly's, that affect the potassium channel, make it less sensitive to the build-up of ATP. The channel remains open, allowing potassium ions to flow in and out rather than accumulate. As a result, insulin secretion is drastically reduced.
Through his research, Hattersley has found that drugs of the sulfonylurea class, developed decades ago to enhance insulin secretion in patients with type 2 diabetes, can close this ATP-dependent potassium channel. The next logical step would be to start Lilly on these drugs – but this was easier said than done.
Lilly was unlike other patients. While the sulfonylurea drugs had been approved by the FDA, they had not been approved for this use. There were additional logistical obstacles to tackle, as well. Dr. Philipson worked day and night to make sure Lilly could get the treatment before she stared school at the end of August.
Lilly entered the hospital on a Monday. She was terrified. Laurie stayed with her day and night, while the rest of the family moved into a nearby hotel. Lilly began taking the oral medication immediately. She was monitored 24 hours a day, while the expert team at University of Chicago made sure to monitor her blood glucose and make adjustments to her insulin pump as the drugs began to take effect. Each day, Lilly’s dose of sulfonylurea increased, and by the end of the week, the staff could see it was working. By the time Lilly left the hospital, the results of her c-peptide test astounded doctors and her family. For the first time in her life, she was making insulin on her own. Lilly left the hospital on Friday, happy to go back home with her brother and sister Her parents continued the protocol at home, and with her doctor’s blessing, Lilly disconnected her pump for the last time five days after leaving the hospital. She celebrated with an ice cream cone – and 90 minutes later had normal blood sugar.
During her stay at the U of C’s Clinical Research Center, Lilly excitedly asked if her cousin and all of her friends with diabetes would able to go off their pumps too. Sadly, she was told no. Hers is only a potential “cure” for a very limited number. Lilly was visibly disappointed because she wants everyone to share the happiness and freedom that she now enjoys.
Lilly no longer takes insulin -- instead she tests and takes pills twice a day to regulate her “monogenic” diabetes. She is thought to be only the fourth such case treated in the United States, and one of less than 50 in the world. After living with this disease for her entire life, she is happily and quickly adjusting to a more “normal” childhood -- free from the constant finger sticks, food monitoring and pump issues. The difference this has made in her life is dramatic. For the first time, she’s just being a kid.
"We hope and pray that Lilly's story will bring hope to all those who suffer with diabetes," said Lilly’s parents. "This was Lilly's unique 'cure' but there are many other 'cures' on the horizon.”
UPDATE: In addition to Lilly, 9 other children have now been “cured.”
More information about monogenic diabetes
© JDRF 2003-2007 |
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