5-year-old Minnesota boy battles incredibly rare disease

- It’s hard not to stare into 5-year-old Niko Lopez’s big, bright brown eyes. 

Born without complications, his mother Cha’Rell Perzichilli said she had high hopes for her first-born son. 

“I really wanted him to be in soccer. I wanted him to be able to be bilingual so that when he was older he could use that to his advantage career-wise.”

Sadly, Perzichilli’s dreams for her son were dashed very early on. 

When Niko was about seven months old, Perzichilli noticed he was displaying signs of significant developmental delays.

“He was unable to sit up, hold his bottle [or] crawl. He could grasp things with his fingers and pick them up. It was like he had no control of his body.”

After meeting with several doctors and embarking on a quest for answers, Cha’Rell and her husband Gustavo Lopez decided to take an expensive genetic exome test.

A year and a few months passed. The results returned. That’s when she learned Niko’s diagnosis - -Mitochondrial Complex 1 Deficiency.

Niko’s mutation is NDUAF1.

Found on his mother’s X chromosome, Perzichilli was the “match”, or carrier, for the mutation of her son’s mitochondrial disease.

“He is one of six in the world that are on record as of right now,” Niko’s mother says.

Niko’s specialist at Gillette Children’s Hospital also confirmed with Fox 9 just how rare his condition is. They verify Niko is only one of six people in the world recorded as having the mutation.

“Three of them, all boys, have already passed away. They passed away when they were three,” Perzichilli said. 

Niko’s illness is not only incredibly rare, but also terminal.

Since his diagnosis, Perzichilli tells Fox 9 she and her family have been doing all they can to help Niko, now 5 years old, fight for his life.

His condition deteriorates the organs. As a result, Niko suffers from brain atrophy, epilepsy and other serious complications.

“His brain is constantly in seizure mode even though his body isn't convulsing,” Perzichilli said.

For the past two months Perzichilli’s been treating her son’s epilepsy with medical marijuana.

“We’ve tried all the seizure meds you can imagine. It really comes down to are you going to dope him up with morphine and oxycodone and all of those other meds or are you going to try something else that could potentially sustain his life and make it worth living?”

Niko is considered a special needs child. He attends Oakdale Elementary School in Oakdale, Minn. 

He’s unable to walk or talk and is bound to a wheelchair, but still has friends who adore him.

“We feed him through his button,” Perzichilli pointed to a tube adaptor on Niko’s belly. “He doesn't take anything by mouth because he'll choke and aspirate.”

In June, Perzichilli sought hospice and palliative care for Niko.

Doctors tell the hopeful mom her son may not have much time left.

“He thinks with what we’re looking at right now he wouldn’t be surprised if it were under a year," Perzichilli said. 

Receiving multiple nebulizer treatments daily for the deterioration Niko’s lungs lately have been taking the hardest hit.

“He struggles to breathe every single day and it kills me because I can’t help him. I just imagine how it must feel not being able to breathe and struggling to breathe. I want to breathe for him and I can’t,” Perzichilli said.

Perzichilli now prepares for the end of her young son’s life.

“He should be playing outside with his friends,” she said.

Time may soon run out for Niko, but somehow he manages to smile.  The joy he brings those lucky enough to meet him is undeniable.

The little boy is no doubt the strongest person Perzichilli knows.

“He goes through more than a lot people and he still smiles and giggles an he’s still happy," she said. 

A benefit for Niko takes place Saturday Nov. 14 at Titan’s Sports Saloon in Oakdale, Minn. from 4 p.m. to 8 p.m.

Niko’s family has set up a GoFundMe account to help out with his medical expenses. You can donate here.

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