Mitochondrial disease attacks thousands of children every year, but the variety of symptoms makes it hard to diagnose.
Now there's a new test that could give anxious families the answers they need.
Gwynnie Andrews looks like a healthy three year old, but her body was sending off distress signals from day one. A droopy eye, fatigue, vomiting and flu-like symptoms were misdiagnosed for nearly two years.
Gwynnie's mom, Beth, had to rush her to the emergency room several times. "She was in severe metabolic decompensation and possibly several hours away from organ failure and/or sudden death."
Dr. Richard Boles diagnosed mitochondrial disease -- genetic defects in the part of the cell that produces energy. The disease can affect multiple organs and produce a variety of symptoms, making it tough to diagnose.
Now a new test is creating a clearer picture of the disease. The test uses saliva or blood samples to look for mutations in any of the 37 mitochondrial genes that are vital for producing energy.
Experts say it's 3,000 percent more sensitive than traditional screening methods.
Dr. Steve Sommer, is the founder and president of Medomics in Azusa, California. "Mitodx looks at every single base in that mitochondrial genome, and we don't just look at it once. we look at it thousands of times."
While there's no cure, early diagnosis can save lives like Gwynnie's.
"Some children can die as a result of complications. After diagnosis and treatment, she doing much better," Sommer said.
Gwynnie gets her blood sugar levels checked daily, snacks frequently and takes supplements that have kept her out of the hospital since her diagnosis.
About 1-in-4,000 children in the U.S. will develop mitochondrial disease by age 10.
Sommer says the turnaround time for the mitochondrial test is 6-8 weeks.
