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Diabetes Caused by Mutated Gene

This couple had the traumatic experience of discovering their baby son had a rare form of diabetes. But it took nearly a year to discover the real cause and the treatment that was needed. Christy Vacchio has just gone through 12 months of worry and despair. She generously decided to share her story with my website visitors. I felt it was an experience other parents ought to know about, just in case. Here’s her story in her own words...

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, losing 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.