Diabetes Caused by Mutated Gene

Carol Ann Bentley

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My son Andrew was born with a rare form of diabetes, but we did not know it until just a couple of months ago. When he was born in 2005, he struggled to survive, but his symptoms were so unusual that the doctors could not figure out what was wrong with him.

Then, after a few days, for no reason, he got better. He thrived, nursed, gained weight and basically developed like a normal baby.

He was fine until he was 4 months old. That is when he got his first cold. After two weeks of getting worse, loosing weight, nursing every two hours (ouch), and becoming lethargic, he was finally admitted to the hospital. The doctors there ran every test they could think of and finally diagnosed him with Type I diabetes. He was in a classic stage of diabetic keto-acidosis (DKA).

Initially he was on shots of insulin. He took about 2-3 units a day. Unfortunately, he started having many low blood sugars, sometimes lower than 50 on a daily basis. We begged the doctors to get him on the pump and finally we did, just before his first birthday. The pump allowed us the freedom to let him eat whenever he was hungry and we didn't have to force feed him if his sugar was fine.

His blood sugar started averaging 250 instead of 300-350 which is what he was doing on shots. We lived like that for about 8 months when our doctor found out about a new type of diabetes just discovered.

In 2004, a study was done on patients who were diagnosed with diabetes before the age of 6 months old. They found that many of these patients have a mutated gene that is blocking the insulin delivery in their bodies. Amazingly, they found that these patients may respond to the same medicine most Type II diabetics take (sulfonylorea).

In September, a story was published in the New England Journal of Medicine. This is where my doctor found out about the new treatment.

In November, Andy's (my son) blood was drawn and his DNA was tested. He had the mutated gene. In January, we went into the hospital to wean him off of his insulin pump and start him on his medicine.

He's been off of insulin now since January 24th and his blood sugars are averaging around 115. It took me and my husband a while to get used to the 80's and 90's that used to make us panic. Now that's normal! Andy's had one blood sugar over 300 since being off of insulin and the 200's are fewer and much farther in between. We don't even have to count his carbohydrates anymore!

It's like we have a normal toddler now. I hope this story inspires everyone with diabetes that advances take place every day and they are moving closer to a cure for everyone. Side note: Please know that the form of diabetes that Andy has is very rare. It is called Permanent Neonatal Diabetes Mellitus. It is found in patients who are diagnosed with diabetes under the age of 6 months old and then only half of those may have the mutated gene. Your doctor can do a DNA test to determine if the gene is present.

© 2006 Carol Ann

Check this free publication offering tips for youngsters on how to avoid developing diabetes type 2: http://www.your-diabetes.com/support-files/kids-prevent-diabetes.pdf Avoid Diabetes: Tips for Kids

Carol Ann created http://www.your-diabetes.com to present information on diabetes from a diabetic's viewpoint.

Find out more about diabetes; how to recognise it; live with it and important linked health issues. Plus, read inspiring stories from other diabetics and share your experience. Subscribe to my mini-blog or newsletter to receive news and updates on your diabetes.

Include delicious recipes from here in your diabetic meal plan and, if you send in your favorite recipe, you could win the monthly prize draw.


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