Genetic Discovery Rids Patient Of Insulin Pump
Filed in archive Treatment by Rhys on August 31, 2006

pump she has worn for nearly her entire life. Now, she only has to swallow some pills each day, a method that proves much less intrusive and inconvenient than an insulin pump.But thanks to advances in molecular medicine, doctors had reason to believe that Lilly could be weaned off the shots. Because scientists recently had identified the genetic mutation that causes her condition, they knew why her body was not making insulin and they had a way to fix it: a readily available drug.
Now Lilly no longer needs insulin shots to control her blood sugar. Instead, she takes five sulfonylurea pills twice a day.
"Our family is watching a miracle unfold," Jaffe said. "For me, the simple act of removing the battery from her pump and putting it away in a drawer was surreal."
The kind of diabetes Lilly has is rare, so the discovery will help relatively few children. But scientists say it is an example of how genetic discoveries are beginning to allow doctors to treat the root causes of a disease instead of its symptoms.
And for families like Lilly's, the benefit is life-changing.
Though this is only a beginning, there does seem to be a possibly bright future for diabetics.
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