January 31, 2006
Research: Other Research
Question from Jasper, Alabama, USA:
My son was diagnosed at the age of nine weeks with type 1 diabetes. After much research, I discovered a study in the United Kingdom about a mutation with Kir6.2. I contacted Dr. Andrew Hattersley and was given the information on how to send blood to the U.K. (Oxford University) to be tested. My son is the first person tested and found positive in the U.S. and the 35th in the world. He no longer has to take Lantus, NPH or NovoLog. He just takes Glyburide twice a day and has glucose levels of 100 to 130 mg/dl [5.6 to 7.2 mmol/L]. This study is only for people who were diagnosed before the age of six months. How many people know about this and how can we spread the word? This could make a HUGE difference in many people’s lives.
Answer:
Many pediatric endocrinologists and pediatric diabetologists know about this, but general physicians and pediatricians may not remember such very rare problems. The International Society for Pediatric and Adolescent Diabetes (ISPAD), of which I am President Elect, has an international cooperative study for such patients in an attempt to learn more. There are also newer genetic tests now becoming available to help make such diagnoses.
SB
