Emory doctors help man with rare genetic disorder speak again

- Jeremy Obata was a regular teen, then, out of the blue, he slowly started losing his ability to speak.

By the time his parents took him to Emory Brain Health Center, 17-year-old Jeremy couldn't even count to 10. He had become increasingly thin, had to leave school, and was unable to communicate with the rest of the world.

The cause, as his family found out, was an extremely rare genetic degenerative brain disease called Pank 2.

Pank 2 affects only three in a million people and causes iron to accumulate in the brain. Jeremy's muscles were painfully and uncontrollably contracting.

"When you look at their MRI, it looks like two eyes," said Dr. Stewart Factor, Emory Brain Health Center's director of move disorders program. "We call it the eye of the tiger."

Jeremy's parents discovered that they each carried a single mutation on one of their genes. When put together, the mutations allowed for the development of the disease in their son.

"It's still painful," Jeremy's mother Johnnie Obata said. "I still wonder why."

Still, when Factor suggested that Jeremy try a procedure called deep brain stimulation surgery, Johnnie Obata was hesitant.

"I was afraid for him," she said. "I was like 'Nobody is going in my son's head."

Obata had the right to be concerned. The surgery was rarely used for Jeremy's disease and, as Factor said, "very few people in literature have had it done."

Still, Jeremy wanted to do anything to possible gain his voice, and his life, back.

Three months after the surgery, hearing the results is jaw-dropping.

"We saw him one month after his first programming and I couldn't believe it," Factor said. "I walked in the room and he said 'Hi Dr. Factor.' I almost came to tears."

Jeremy, now 21, is still not fully recovered. It's going to take a long time, but he's getting better every day.

He's now not just able to count to 10 without a problem, but he can also write about his dreams of owning his own business by himself. 

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