She saved the lives of her twins: A misdiagnosis, cerebral palsy and dopa-responsive dystonia

When Joe and Retta Beery welcomed Noah and Alexis into the world 11 years ago, the babies seemed as healthy as their older brother. But within a year, they were diagnosed with cerebral palsy. As time passed, the children progressively became sicker and weaker. Retta became convinced that Noah and Alexis had something other than cerebral palsy, a non-progressive disorder that affects muscle control and is often linked to prenatal brain damage.

The doctors disagreed. But Retta began spending several hours a day poring through medical literature, looking for a name for the disease that robbed her children of sleep, turned their muscles into rubber bands and caused them to cry incessantly and vomit regularly.

"I had been doing my own research for two to three hours a day for several years," Retta said. "I came across an article about a rare disorder that is often misdiagnosed as CP."

Alexis, who suffered more severe symptoms than Noah, experienced dramatic developmental regression. By age 5, she had trouble walking, sitting and swallowing. Her body stiffened with tremors and her eyes vacantly rolled backward, all classic symptoms of dopa-responsive dystonia, a treatable genetic condition caused by a dopamine deficiency in the brain. Dopamine-deficient brains are unable to transfer nerve impulses between nerve endings and have difficulty converting thoughts into actions.

Specialists were hard to find. Retta located the doctor quoted in the article and took the kids to Chicago to visit him. He promptly confirmed Retta's suspicions and gave the twins Sinemet, a drug that stimulates dopamine production. Within hours, Alexis' muscle control radically improved and the little girl who was hidden behind the contorted movements began to emerge. Noah, too, saw remarkable improvement shortly after taking the drug.

These days, they are normal fifth-graders, thanks to daily doses of dopamine-stimulating medication.

"They're doing everything now," says Retta. "Noah has been playing baseball and doing well academically. And Alexis beat the elementary school track record for the 100-meter dash last year. She loves to run."

Retta, who calls the transformation a miracle, is promoting awareness of the disorder, which she suspects may not be as rare as doctors think. Since an article appeared in Woman's World in June 2006, Retta has received calls from as far away as Canada from people with similar symptoms. She has spent countless hours sharing information about the disorder and treatment, which she says can be tricky.

"I've had a lot of opportunity to reach out to people who have been misdiagnosed and share our hope with them."

Now her discovery has ignited a passion to help others with the same rare disorder. Their story will get national media exposure again as the focus of Discovery Channel's Mystery Diagnosis. The episode will air at 10 p.m. Sept. 3 and will be repeated throughout the week.

For more information about the Beerys and dopa-responsive dystonia, visit www.thebeerys.com.

Advice: If you doubt the doctor's diagnosis, you can investigate other possible diagnoses, e.g., here.

Read another girl’s misdiagnosis story with a happy ending, or read Susanne Tso’s source story.