5-year-old Evie Castiglioni suffers from Leigh Syndrome, a genetic disorder that is a mitochondrial disease. She has battled the disorder for nearly all her life.
Evie went to see a pediatrician after her first birthday. Fifteen months after, she was still not walking, had low tone and was breathing louder than normal.
The 5-year-old later went through genetic testing that confirmed she had Leigh Syndrome. She was only 17 months old.
Evie’s mom described her daughter as “spunky.”
“She loves Barbie, Frozen, likes to color, likes her Ipad, likes to sing and dance,” Jackie Castiglioni said.
Dr. Marwan Shinawi is a Washington University pediatric genetic specialist at St. Louis Children’s Hospital who worked with Evie. He said mitochondrial conditions can affect energy levels, as seen in Evie’s case.
In grade school science classes, mitochondria are known as the powerhouse of the cell. So, for Evie, her body needs help to get the energy for her to live her life.
Even a common cold can be a big issue for Evie to fight off by herself.
“We were admitted for that about four times in 2019,” Jackie Castiglioni said, “and I think due to those illnesses she got set back, so she lost her ability to walk, her muscle tone was weakened more than it already had been. So, every time we got out of the hospital it was building back up to the strength she had before being admitted and being sick.”
The COVID-19 pandemic was an additional stress for Evie and her family. The 5-year-old went into respiratory failure a month after concerns about the coronavirus arose around March 2020.
Evie spent two weeks on a ventilator.
“We were not going to get her out of the hospital unless we went through with a tracheostomy,” Jackie Castiglioni said.
A tracheostomy provides an alternative way of breathing by surgically creating a hole in the windpipe. Evie now uses one to help her breathe.
When Evie was being discharged from the hospital, they said someone has to be awake with her 24/7. The family had in-home nursing at the time, but insurance stopped covering it in January of this year. Jackie Castiglioni said her husband had to quit his job to stay with Evie.
“He would stay up until 5:00 a.m., I would wake up at 5 a.m., he would go to bed then we would begin the day,” Jackie Castiglioni said. “We had help from parents, family members, but it was a lot.”
There is no cure for mitochondrial disease or any FDA approved drugs for treating it. Shinawi said many patients with the disease don’t live longer than five years.
Still, despite the odds, Evie is fighting it and trying to enjoy being a kid. She is hoping for an end to the pandemic so she can go to school soon.
The Castiglioni family and Evie’s doctors want others to know about this illness and how it’s range of symptoms could impact anyone from the very old to the very young.