Five-year-old Evie Castiglioni has Leigh Syndrome, a genetic disorder that involves the mitochondria. She has battled the disorder most of her life.
Evie went to see the pediatrician after her first birthday. Fifteen months later, she was still unable to walk, her voice low and breathing louder than usual.
The 5-year-old girl then underwent genetic testing which confirmed that she had Leigh Syndrome. The little girl is 17 months old.
Evie’s mother describes her daughter as a “smart” person.
Jackie Castiglioni said: “She loves Barbie, Frozen, loves to color, loves Ipad, sings and dances.
Marwan Shinawi is a Washington University pediatric geneticist at St. Louis, who worked with Evie. He said mitochondrial conditions can affect energy levels, as was the case with Evie.
In school science classes, mitochondria are known as the energy-providing organs of the cell. So for Evie, her body needs help to get more energy into her life.
Even the common cold can be a big deal for Evie fighting off on her own.
Jackie Castiglioni said: “We were admitted about four times in 2019. “And I think because of those illnesses she had a relapse, so she lost the ability to walk, her muscle tone was also weaker than before. So every time we got out of the hospital, her strength was the same as before she was hospitalized and she was sick.”
The COVID-19 pandemic is an added stress for Evie and her family. The 5-year-old had respiratory failure a month after concerns about the coronavirus emerged around March 2020.
Evie spent two weeks on a ventilator.
Jackie Castiglioni said: ‘We won’t take her out of the hospital unless we do a tracheostomy.
Tracheostomy provides an alternative way of breathing by surgically creating a hole in the trachea. Now Evie uses one to help her breathe.
When Evie was released from the hospital, they said someone had to stay up with her 24/7. The family was nursing at home at the time, but insurance stopped paying in January of this year. Jackie Castiglioni said her husband had to quit his job to be with Evie.
Jackie Castiglioni said: “He stays up until 5am, I wake up at 5am, he goes to bed and then we start a new day. “We had help from our parents, family members, but it was a lot.”
There is no cure for mitochondrial disease or any FDA-approved drugs to treat it. Shinawi said many patients with the disease do not live longer than five years.
However, despite that, Evie still fights with it and tries to have fun like a kid. She is hoping the pandemic will end so she can go to school soon.
The Castiglioni family and Evie’s doctors want others to know about the disease and how its symptoms can affect anyone from the elderly to the very young.
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