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SPECIAL REPORT: Luca's Legacy

Luca (Florio family)

FREDERICKSBURG, Va. (WSET) -- Imagine your child is sick and you don't know why. One young couple who graduated from Lynchburg College went through years of testing and visits with specialists to try to figure what was making their son so ill, all while he was essentially dying right in front of them.

Inside all of us are good and bad Mitochondria which consist of hundreds of small organelles that power our critical organs.

If you happen to have a larger amount of the bad, you may experience seemingly common symptoms like exhaustion or a headache, but Chris and Nicole Florio didn't know what was wrong with their son, Luca. "From day one it was always a mystery," said Nicole Florio, Luca's mother.

When the Florio's found out they were pregnant, they weren't sure if they'd even meet their little one. Her doctor told them that the baby was smaller than normal and had possible brain issues, and it was possible she could lose him. "After [the doctor] left the room he just patted me on my knee and was like, 'well, it's okay, you're young, you can have another one,'" said Nicole.

"When he was born he was 3 lbs. 1 oz. and then he dropped down to just under 3 lbs," Nicole said.

When they were finally able to bring him home, they thought the worst had passed. "We didn't really know what to expect, "added Nicole. But, soon after leaving the hospital he started exhibiting strange symptoms, "That's when they discovered within a couple hours that he was, in fact, having infantile spasms."

However, after six weeks on steroids, Nicole says Luca's seizures were gone. "So, we thought that was one hurdle we were over and we were just going to be dealing with developmental delays, and learning disabilities, and other disabilities that would come our way."

The Florio's never imagined anything devastating would happen. "It's amazing what you can get used to. You go from, 'Hey, I want a child that can grow up and do all these things to, you know, I'm okay if he never walks," said Chris Florio, Luca's father said.

After years of not knowing what was making their son sick they finally got a diagnosis of Mitochondrial disease in March.

"Chris started researching it heavily and then that's kind of when we started getting worried and concerned." Nicole said. "It's not really anything anyone you can do about it," added Chris.

There's still so little known about Mitochondrial disease that it can be tough to find a doctor schooled in the genetic disorder.

Dr. Radhika Dhamija, at the University of Virginia, said the disease is not the first diagnosis a physician would think about because it is extremely tough to diagnose. "They may have seizures that are difficult to control, they may lose their ability to think, memory, and then they can have movement disorder, but Mitochondrial disease behaves very differently in different people," said Dr. Dhamija.

There is no specific test to detect Mitochondrial disease. And, if a baby has it, it cannot be detected until after the baby is born.

"When it presents at birth or infancy, it's usually a severe phenotype," added Dr. Dhamija.

Only four short months later after receiving the diagnosis, Luca would be gone. "His lungs basically suffocated, suffocated him slowly and it got too much. And finally his heart stopped; you look back and you say 'I don't know how we got here.'" said Chris.

The Florio's found themselves pouring their energy into a new mission. They began a working relationship with Beth Whitehouse, the Director of Development for the United Mitochondrial Disease Foundation, to help raise money and promote education in the medical world.

"If we can find out what's going on in the dysfunction of the mitochondria, we're going to be able to cure more than just mitochondrial disease," added Whitehouse.

So the Florio's began working non-stop by raising awareness with a charity golf tournament not long after Luca took his last breath. "The best doctors in the world weren't able to help our son. Research takes money, so we have to do anything that we can do, not matter how small, to give every dollar that we can," said Chris.

The Florio's reached out to a network of family members and friends to further their cause like their good friend Kim Wilbur who is the Director of Marketing at Old Trail Golf Club near Charlottesville, Virginia. "I cannot even imagine what they're going through. We want to show that Luca didn't die in vain, that we're going to do more to raise awareness for them and the foundation," Wilbur said.

'Luca's Legacy' t-shirts, a green stone necklace, and videos are all being made all with the goal of funding research and preventing another loss of life.

Back home in Fredericksburg, a pile of Luca's toys in the living room and his bedroom remain untouched. "We haven't had the nerve to change it yet," said Chris. "I can't imagine ever having a child that was that sweet and loving and just so happy to spend time with us."

Doctor Dhamija said advances in technology have helped genetic testing more accessible and affordable in terms of diagnosing Mitochondrial disease.

Right now, the only treatment is what she calls a 'Mito Cocktail' of vitamins and supplements, but said, nobody really knows how much they help. You can also exhibit symptoms later in life usually following an infection that attacks your organs.

If you want to donate to the Florio family, a link to the GoFundMe page is above.

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