Ohio State University Disease Research Helps Central Ohio Family


UPDATED: Friday June 21, 2013 6:37 PM

When Ellie Kovalcik was 18 months old and not walking, her parents knew something wasn't right.

By the time she turned 2, doctors finally discovered why.

"We got the diagnosis and of course we were petrified of what her future would be. She, for the next three years, did very well. She taught herself how to walk, she was very independent" Kris Kovalcik, Ellie's mom, said.

Ellie, now 11, has a genetic neuromuscular disorder called mitochondrial disease, in which the body's ability to generate energy is compromised.

Overtime, she has lost the ability to walk, talk and to digest and swallow food.

Ellie is also unable to breathe on her own.

Her mother said the disease robbed her of a normal childhood.

"She can get her emotions across with facial expressions, but I just wish she had the ability to tell us exactly what she's feeling,” Kris said.

The Kovalciks have simplified their life so they can be together. This helps them get through each day.

"There are times when it's a little difficult to swallow what she's going through and, we get emotional about it but we just persevere" Kris said.

Researchers at The Ohio State University Wexner Medical Center have developed new treatments using Ellie's cells over the last four years.

They have seen an increase in energy production outside of her body, but they are now trying to get FDA approval for what Dr. Douglas Pfeiffer feels is essentially a cure.

"This hasn't been done before, so we don't know exactly how far it will go, but in theory, it will do a lot," Pfeiffer said.

These advancements give her parents a new sense of hope for Ellie's quality of life in the future.

"Every time we get a research update from Dr. Pfeiffer, it is one step closer to a miracle" Kovalcik said.

The 8th Annual Race for Ellie is this Saturday, June 22, at Olentangy Liberty High School. Registration starts at 7:30 a.m. and the 5K and 10-mile walk starts at 8:30 a.m.

There is also a “Kids' Fun Run" at 9:30 a.m.

Click here for more information.

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