Fundraiser to benefit Bluffton student with mitochondrial disease

tbarton@beaufortgazette.comApril 29, 2013 

Kris, Ellie and Matt Kovalcik of Bluffton.

MEREDITH BAUROTH — Island Love Photography

  • Dinner with Ellie will be from 5 to 8 p.m. May 10 at Robert Irvine's Nosh, 1414 Fording Island Road, Suite 160, Bluffton. All proceeds go to The Race for Ellie Foundation and its partnership with the Ohio State University Wexner Medical Center for research toward a cure for mitochondrial disease. The family hopes to have a Race for Ellie event in the Lowcountry sometime in 2014.

    Details: www.RaceForEllie.org

The parents of Ellie Kovalcik see hope on the horizon, but know they're working on borrowed time.

The Bluffton Elementary School fifth-grader has a chronic genetic disorder that leaves her unable to walk, talk, eat or breathe on her own.

She has neither a normal childhood, nor a normal life expectancy.

At 11, she already has outlived doctors' expectations, and new research and genetic therapy offer promise.

But the fact remains: There is no cure.

"Most with mitochondrial disease don't live to see their teenage years," said Ellie's mother, Kris Kovalcik. "We were told we'd lose her between the ages of 4 and 7, and we almost lost her in 2009."

It's a haunting reminder that weighs heavily on Bluffton Elementary resource teacher Michelle Brown, who more than two years ago lost a student to the same rare disorder.

Livi Custer of Bluffton battled mitochondrial disease for nearly five years. But despite her family's resolve and cutting-edge medical treatment, she died in July 2010, just 11 days before her fifth birthday.

Brown, however, has not wavered in her fight to help Ellie and others across the nation live healthy, productive lives by raising money for research into the disease.

Brown and others at Bluffton Elementary already have raised $1,800 for a charity Ellie's parents established in her name to support mitochondrial research. They hope to raise more with the help of celebrity chef Robert Irvine's Nosh at Tanger Outlet 2 in Bluffton.

"(Ellie) has lived so much longer than they expected due to this research," Brown said. "My time with her, I do the best I can to make her life a little more functional. I think we're meeting with some success. That's what this research is about -- have her life continue so she could help educate people about (mitochondrial disease) and be a support system."

Ellie has a mutation in her DNA that prevents her mitochondria -- tiny structures in her cells -- from producing enough energy for organ function. Known as the "powerhouse of the cell," mitochondria create more than 90 percent of cellular energy and are necessary to sustain life and support growth.

The disease can cause loss of muscle coordination, as well as muscle weakness, neurological problems, developmental delays, gastrointestinal disorders and autonomic dysfunction.

For Ellie, who has the cognitive abilities of a typical 11-year-old, it means using a pink iPad and texting to communicate, a ventilator to breath, a tube to eat and a motorized wheelchair to move.

Forms of the disease and their effects vary from individual to individual, thus making it difficult to diagnose. It afflicts about 1 in 4,000 newborns in the United States, said Kovalcik, who heads The Race for Ellie Foundation.

Kovalcik and her husband, Matt, started the charity in 2006 and have raised more than $650,000 to fight mitochondrial disease. Money raised from the foundation's annual 5K run, 1-mile walk and kids' fun runs in a suburb of Columbus, Ohio, go directly to the Ohio State University Wexner Medical Center for research toward a cure.

Its research recently showed promising results.

Dr. Doug Pfeiffer and his researchers took modified DNA, condensed it for delivery, loaded it into vesicles and then coaxed the molecular delivery trucks into delivering the DNA directly into Ellie's cells.

Kovalcik compared the process to sending a large digital file, where the sender will "zip" the file to make it smaller. The recipient then "unzips" the file to view the data. The data in this case provide instructions for mitochondria to boost energy production.

The result was a five-fold increase in her cellular energy production, according to Kovalcik.

"Ellie's cells produced the same amount of energy as her father's cells," she said. "She was producing 12 percent the amount of energy as her father. It's a significant breakthrough, and we need funding to continue the research. We can make it work in a petri dish. Now, how can we make it work in the body?"

Kovalcik added that the work will benefit all patients with mitochondrial disease, and the therapies and methods being developed could have broader applications.

"She's a fighter. She smiles through a lot," she said of her daughter. "When you're dealing with a disease where your child has already outlived her life expectancy, you live day to day. Things change in an instant and you roll with it. You have to be flexible. Every day is a gift. ... Our life is just about enjoying each other and simplifying to be together.

"We couldn't do it without the support of friends and family and those in Bluffton. I'm indebted to them."

Follow reporter Tom Barton at twitter.com/IPBG_Tom.

Related content:

Remembering Olivia: A small girl brings together a large community in Bluffton: Aug. 1, 2010

Race for Ellie

The Ohio State University Wexner Medical Center

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