5-year-old beats odds fighting genetic disorder

5-year-old Avi Castiglioni suffers from Leigh syndrome, a genetic disorder characterized by a mitochondrial disease. She has struggled with this disorder almost her entire life.

Evie went to the pediatrician after her first birthday. Fifteen months later, she still couldn’t walk, had a low tone of voice and was breathing harder than usual.

The 5-year-old later went through genetic testing that confirmed she had Leigh syndrome. She was only 17 months old.

Evie’s mother described her daughter as “adventurous”.

Jackie Castiglioni said, “She loves Barbie, she loves Frozen, loves to color, loves her iPad, loves to sing and dance.”

Dr. Marwan Shinawi is a Washington University pediatrician at St. Louis Children’s Hospital who worked with Avi. He noted that mitochondrial conditions can affect energy levels, as seen in the case of AV.

In grade school science classes, mitochondria are referred to as the powerhouse of the cell. So, for Evie, her body needs help to get her the energy to live her life.

Even a common cold can be a big problem for AV to fight on its own.

“We were admitted to this about four times in 2019,” said Jackie Castiglioni, “And I think those diseases caused her to come back, so she lost her ability to walk, her muscle tone was weaker than ever. So, every time we got out of the hospital she was admitted to the hospital. The strength it was before being sick and getting sick again.”

The COVID-19 pandemic was an added 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.

Avi spent two weeks on a ventilator.

“We weren’t going to get him out of the hospital until we had a tracheostomy,” said Jackie Castiglioni.

A tracheostomy provides an alternative way of breathing by surgically making a hole in the trachea. Evie now uses one to help her breathe.

When Evie was getting discharged from the hospital, they said that someone would have to be up 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 that her husband had to quit his job to be with Evie.

Jackie Castiglioni said, “He’s up until 5:00 in the morning, I wake up at 5 in the morning, he goes to bed and then we start the day.” “We got help from parents, family members, but it was a lot.”

There is no cure for mitochondrial disease or any drug approved by the FDA to treat it. Shinavi said that many patients with this disease do not live more than five years.

Yet, despite the odds, Evie is fighting it and trying to enjoy being a kid. She is hoping for the end of the pandemic so that she can go to school soon.

The Castiglioni family and Avi’s doctors want others to know about the disease and how it can affect anyone with a range of symptoms, from the very old to the very young.