Kingaroy girl Evie Oberle-Nicol’s brave battle against rare genetic disorder

‘It hasn’t taken her light away’: Little Evie’s infectious smile and positive attitude hides the trauma of the condition that took away her ability to crawl and walk, and almost robbed her of her life.

With her infectious grin and golden locks, Evie is like a little ray of sunshine who cannot help but to bring a smile to the face of everyone she meets.

But the three-year-old’s happy demeanour hides the trauma of the life-limiting condition she lives with every day, which took away her ability to walk, crawl and nearly took her life.

The day of Evie’s devastating diagnosis is burned into the brain of her doting mother Kacee Oberlee, who rushed her little girl to hospital after she fell unconscious in September.

“(The hospital) pinched and poked her for days trying to wake her. Her body had put itself in a coma because the oxygen and sugar in her body was scarily low,” Ms Oberle said.

“She went from being this normal child with nothing wrong to overnight falling unconscious and the doctors telling me she might not wake up.

“After that day she never walked again.”

When Evie was initially diagnosed with cerebral palsy at two, Ms Oberle said she knew something more sinister was at play and continued to fight for her daughter’s future.

Evie’s near-death experience finally led to doctors uncovering her diagnosis of TANGO2-related metabolic encephalopathy and arrhythmias.

The extremely rare genetic disorder was only discovered in 2016 and affects just a handful of people worldwide, with the likelihood of diagnosis likened to winning the lottery five times in the same year.

“It takes all of our children. Most of our children pass before the age of nine,” she said.

“It affects her speech, eyesight, hearing and neurological patterns, and metabolic crises can be triggered by anything.

“I wasn’t expecting it to be nearly as serious as it was.

“I went from being told for ages that nothing was wrong with her to then turn around and hear she’s probably going to die in the next few years.”

A GoFundMe page has been set up to help Evie on her journey, which you can donate to HERE.

Ms Oberle said the “unknowns” surrounding the rare diagnosis are at times “unbearable”, with little Evie often taking a turn for the worst without warning.

The little girl was laughing and smiling on the day she was due to be discharged from hospital in February this year after a metabolic crisis.

“She started having arrhythmias and I had doctors coming in telling me she wasn’t going to make it,” Ms Oberle said.

“I felt so heavy, like my whole world was crumbling around me. Evie is my best friend and I couldn’t imagine life without her.”

Evie with her mother Kacee Oberle. Photo/Kacee Oberle

Despite all odds, including a Covid diagnosis after she was discharged, Evie has managed to win every medical battle that has come her way so far, and has done it all with a smile on her face.

“I’ve seen this little girl go through so much, and even while she’s the sickest and they’re telling me she’s gonna pass away, Evie sits there and comforts me and holds my hand,” Ms Oberle said.

“She’s the most delightful being I’ve ever come into contact with. It hasn’t taken her light away.”

A TANGO2 diagnosis is like navigating a labyrinth, with Ms Oberle seeking help from other families battling the disorder across the world.

“I’ve spoken to an overseas doctor who has seen four cases and she’s classified as an expert, so you don’t need to have seen or know much to be an expert since it’s so unknown.”

While there is currently no cure, Ms Oberle holds hope that further research into this genetic mystery will eventually unravel hope for Evie and other people afflicted with the deadly disorder.

“I’ve followed other people’s journeys and it’s so heartbreaking, because you feel like you know these children,” she said.

“All of our children are so bright and gentle, and it’s just awful to watch these beautiful beings have to go through some of the scariest stuff in the world.

“But Evie has taught me that love is more powerful than anything.”

If you’d like to help Evie on her journey, you can donate to her GoFundMe page HERE.

About TANGO2

TANGO2-related metabolic encephalopathy and arrhythmias is caused by changes in a gene called TANGO2.

The rare genetic disorder can cause neurological damage, irregularities in the rhythm of the heart, the breakdown of muscle, and other complications.

The symptoms will often differ significantly from person to person.

According to the National Organization for Rare Disorders, children with TANGO2 can experience episodes of severe illness called metabolic crisis, which can lead to dangerously low blood sugar, a build-up of toxins, or even the breakdown of muscle tissue.

There is no cure for the disease, but research is advancing every year.