‘She’s a gift to everyone who knows her’
Ellie Kovalcik celebrates Sweet 16
Sweet 16.
The Kovalcik family didn’t think they’d see this day.
Ellie has Leigh’s disease, one of the most devastating forms of mitochondrial disease.
“It’s a blessing she’s still here,” Kris said. “But you always have that hanging over your head. Anything can go wrong at any time. Knowing in the back of your head that the shoe can drop any time is hard.
Ellie was born in October 2001. At 14-16 months, Kris and her husband, Matt, noticed Ellie was not walking independently. She would drunkenly walk and hold onto the couch or table. She would fall over while sitting.
A physical therapist working with Ellie noticed nystagmus of her eyes. An MRI in 2003 found a lesion, which can indicate mitochondrial disease. Kris and Matt took Ellie to a geneticist; she had a muscle biopsy and was diagnosed around her second birthday. It took 4-5 months from MRI to diagnosis, said Kris, who now lives in Bluffton, SC with her family.
“It devastated us but it’s amazing we had a diagnosis that fast,” Kris said, crediting Nationwide Children’s Hospital in Columbus, OH.
The diagnosis put all the puzzle pieces together for the family.
Ellie’s symptoms include delayed gastric emptying, so she’s on a GJ tube and fed continuously; inability to swallow; weak fine motor skills; breathing difficulty (she has had a trach since 2009); inability to walk; difficulty sitting up (she’s either propped up in bed or in her wheelchair); lack of control on her right side.
She’s also nonverbal, so communicating is frustrating, but you can hear her laugh, Kris said.
“She has a great sense of humor,” Kris said. “She’s pretty social.”
Medical interventions have helped Ellie get this far. She has a feeding tube; she’s on a full-time ventilator; she’s been in the EPI clinical trial for seven years.
“It’s hard to say how we are impacting the trial,” Kris said. “But I have no desire to find out what life is like without the trial.”
Ellie has not been hospitalized since 2009 “and that’s pretty miraculous,” Kris said.
“She’s a fighter,” Kris said, noting that she’s also a teenager with moods. She questions why she is the way she is. “I tell her it’s in God’s hands. We rely on our faith for that. Church is beneficial for our family.
“Day-to-day life is not easy,” Kris said “but we take each day as it comes.”
Cognitively, Ellie is good, Kris said. She goes to high school three days a week from 10:30 a.m.-3:30 p.m. on a modified academic program. “That’s about all she can do,” Kris said. The other two days she has homebound services.
“Because of her life expectancy, we never pushed hard for academics,” Kris said. “We never imagined she’d be here at 16.”
This is the first year Ellie is in a self-contained classroom. The students learn cooking, laundry, money management, working in the community. She can attend high school until 21.
Ellie loves to cook even though she can’t eat. “But she can taste things,” Kris said. “At that point, she feels normal.”
Ellie’s twin, Jimmy, is in the class, too. He has autism/ADHD and is academically challenged. Ellie likes to be in school with Jimmy, Kris said.
Ellie and Jimmy have a sister named Mary, who will be 12 in January.
In 2006, one of Kris’ neighbors wanted to do something for Ellie. She was a runner and organized the Race for Ellie, a 5K. The race was held from 2006-2014. The Kovalciks started the Race for Ellie Foundation and raised money for a research study at Ohio State. They also donated some of the funds to MitoAction. “Everything MitoAction does is wonderful,” Kris said.
But the family decided to stop the race in 2014. “We needed a break,” Kris said. “We burned out.”
Since 2014, Kris has retreated from the Mito world and Facebook for her own sanity. “It’s hard to be in it every day. If it’s in my face every day, I get depressed,” she said.
“But while I’ve been out of the Mito world, it doesn’t mean we don’t pray for all affected by Mito.”
Matt is a fee-only financial advisor. Kris works for Ellie.
“I feel fortunate every day that I’m able to stay home with her,” Kris said.
“We take every day as it comes,” she said. “I don’t really plan for the future. She’ll always be with us as long as she lives. That’s the future. We’ll stay in the pattern we’re in and do things that make her happy.
“She’s a gift to everyone who knows her. She reminds us what life is about: helping one another.”