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Diabetes diagnosis surprises Augusta mother

Tuesday, May 13, 2014 6:18 PM
Last updated Thursday, May 15, 2014 12:39 PM
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Max Story trudges out of the playground and lays a penny he unearthed on the stone bench next to his mother, Lisa. That is not the only thing the two might share.

With a family history of type 1 diabetes that usually manifests itself in childhood, Lisa got her son, Max, into a longterm international study based at Georgia Regents University that is closely following at-risk children to see if they develop the disease and what small changes might have encouraged it to develop.   MICHAEL HOLAHAN/STAFF
With a family history of type 1 diabetes that usually manifests itself in childhood, Lisa got her son, Max, into a longterm international study based at Georgia Regents University that is closely following at-risk children to see if they develop the disease and what small changes might have encouraged it to develop.

Max is one of thousands of children at high risk of developing type 1 diabetes who are being followed as part of an international study based at Georgia Regents University. In an unusual twist, the study helped Lisa Story get diagnosed with the same disease last month at age 32.

Type 1 diabetes is an autoimmune disease where the body mistakenly attacks and destroys the insulin producing beta cells in the pancreas. But why some people who carry a high-risk gene develop the disease and others don’t is still a mystery and is the focus of The Environmental Determinants of Diabetes in the Young. It is based at GRU and is following 8,667 children who are genetically at high risk at centers in Augusta, Florida, Denver, and Seattle and in Finland, Germany and Sweden.

Most type 1 diabetes is diagnosed in the U.S. and in Europe in two peaks, one around age three and another around puberty and most show up before age 18, said Dr. Jin-Xiong She, the principal investigator of the study and director of the Center for Biotechnology and Genomic Medicine at GRU. Environmental factors, including diet, probably account for the difference in who gets the disease and when, he said.

“There are many suspects,” She said. “We know the so-called environmental factors are very, very important. We still cannot pinpoint the exact cause. At the end of the day, I think there are going to be multiple triggering factors, there are going to be multiple protective factors. The interaction between these protective and triggering factors in the context of the genetic background of the individual will determine whether someone progresses to diabetes or not.”

Story already knew she had a strong family history of type 1 diabetes – her brother was diagnosed at age 2 and a cousin at 18 months old. When Max was born, a screening showed he was at high risk so he was enrolled in the study, along with a nephew and a niece. Max has not developed the disease, but Story is very proactive with his diet.

“We’re very carb-conscious,” she said, and turn to things such as peanut butter that are high-calorie but lower in carbohydrates. If anything, Story herself had problems with low blood sugar, she said as she sat on the bench and watched Max on the playground.

“I have always been hypoglycemic – Don’t throw that dirt – and I had horrible problems during all three of my pregnancies with hypoglycemia,” Story said.

As part of a screening for adults two years ago, Story initially tested negative for the blood biomarkers for the disease, said Diane Hopkins, the study coordinator. Through the study, she was offered a second screening a year later and this time it was different, Hopkins said.

“This time the result was significantly positive,” she said. Story had begun to develop symptoms such as fruity breath and terrible headaches, but the result was still unexpected.

“That was a shock because never in my wildest dreams did I think at 30-something years old I’d have to be put on insulin several times a day,” Story said.

Being able to take the results and show them to her primary care doctor made her type 1 diagnosis a slam dunk, Story said.

“My doctor was just astounded,” she said.

That is important because type 1 and type 2 diabetes are different diseases and the treatment should be very different, She said. At her age, Story could easily have been misdiagnosed with type 2 diabetes, he said.

“A misdiagnosis can be sometimes very, very dangerous to the patient and also can be very harmful to their long-term health,” She said.

Story was also fortunate with the timing of her diagnosis. After being uninsured for three years, she just got health insurance through the Affordable Care Act and could get a proper diagnosis last month. It could also make a difference down the road with affording her care, when basic things such as a test strip can cost close to a dollar apiece, Hopkins said.

“If you’re having to test your blood sugar six to eight times a day, just your testing alone can be $6-$10 a day,” she said.

Finding out how and why those environmental factors cause the genetics to kick in – in Story’s case after decades – will be an important goal of the study, She said.

“By comparing the ones who develop early and the ones who don’t develop but have the same genetic predisposition that can help us understand how we might be able to delay and hopefully prevent the disease,” he said about the study. “Being able to delay that for many, many years could be tremendously helpful to the patients to avoid complications.”

For Story, it means now taking insulin up to four times a day and making sure her family eats healthier, more of a “lifestyle change” than anything else. But if Max also goes on to develop the disease, her history and her family’s history will prove useful, she said.

“Putting everybody’s two cents together, we can come up with a good plan for the next generation who is going to grow up with this,” Story said.

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corgimom 05/13/14 - 08:39 pm
I think some of those lab

I think some of those lab tests are just plain bogus.

Too many people have had false readings on them for them to be accurate.

foxsilong 05/14/14 - 09:55 am
please have cure......

My boyfriend was also diagnosed with Type 1 when he was around 14 years of age. His younger twin brothers were born with type 1. It was unusual since no one in his family was diagnosed with it before, and there was never a history of similar/ relating disease.
It hurts my heart just to see him having to inject a needle for insulin after every meal, and before bed time, he has to take pills and do his blood test. Without it, he will suffer tremendous headache follow by a coma.
His NEEDS his medication or he will die, and the medication always cost 3 figures at every refill.
Imagine paying that money and carrying a needle with you like it's part of your life, and worry that your future child/grand kids might have to go through the same thing. Once you have it, you have it until death. That is how bad type 1 is. We need to find cure or prevention!

corgimom 05/14/14 - 11:19 am
Fox, somewhere back in his

Fox, somewhere back in his family tree, somebody had it. Back in the early days, many diseases were misdiagnosed.

Tom Corwin
Tom Corwin 05/14/14 - 12:06 pm

What tests are you talking about? The ones Lisa Story got were highly specific for the biomarkers that would show she was developing the disease. They were sensitive enough that one test two years ago did not show it and then a year later they did, just as she was showing symptoms. So obviously, they are accurate.

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