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Gene Sequencing Helps Twins With Rare Disorder
Date:6/15/2011

By Jenifer Goodwin
HealthDay Reporter

WEDNESDAY, June 15 (HealthDay News) -- Twins with a rare disorder that left one of them unable to walk are now playing soccer and running track, thanks in part to cutting-edge technology known as whole-genome sequencing that enabled physicians to better treat the disorder.

Soon after Alexis and Noah Beery were born it was obvious to their parents, Joe and Retta, that the twins were different from their older brother, Zach. They cried nonstop, vomited frequently, had poor muscle tone and missed their developmental milestones.

Looking for answers, Retta took them to dozens of specialists who did blood draws and brain scans. Eventually, physicians diagnosed the twins with cerebral palsy, which can be caused by a lack of oxygen in the womb that injures the brain, leading to movement difficulties, muscle weakness and tight, constricted muscles or joints.

Despite various therapies, at age 5, Alexis's condition suddenly worsened, something Retta knew wasn't typical of cerebral palsy from the countless hours she'd spent researching her children's condition. Alexis was having difficulty swallowing, could hardly sit up on her own and was wasting away.

Desperate, Retta again went looking for answers.

During her hunt, she came across an old newspaper article about a rare disorder, dopa-responsive dystonia, which is caused by a deficiency of the brain neurotransmitter dopamine and is often misdiagnosed as cerebral palsy. The symptoms matched her daughter's: tremors, muscle rigidity and difficulty walking, especially later in the day.

"Everything in me knew this is what Alexis had," Retta said.

And there was good news: Dopa-responsive dystonia is treatable.

The Beerys, who were living in Phoenix, Arizona at the time, found a physician in Michigan who was looking for people with dopa-responsive dystonia who had been misdiagnosed. He prescribed levodopa (L-Dopa
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