Lia's Battle: Boalsburg girl fights rare genetic disease

Lia Florio of Boalsburg is just 2 years old, but she’s fighting one of the rarest diseases in the world. (WJAC)

BOALSBURG - Lia Florio of Boalsburg is just 2 years old, but she’s fighting one of the rarest diseases in the world.

Lia suffers from beta-propeller protein-associated neurodegeneration, or BPAN an extremely rare genetic disease, that causes developmental delays in children and eventually neurological issues that affect muscle movement, much like Parkinson’s disease.

Lia was diagnosed with BPAN less than two months ago.

"It's our little girl. We want to help her. We have to help her," said Steve Florio, Lia’s father.

There’s no known cure for BPAN. There are only suggested treatments to counteract symptoms and slow down the progression of the disease.

"Realizing that there's very little treatment, if any treatment, and that you're kind of powerless to stop it -- as a parent, that's hard," said Steve Florio.

The disease can only be found and diagnosed through an expensive genetic test of the ‘X' chromosome.

Some thought Lia was just a slow learner. But her mother, Kristi Florio, knew something was wrong from the beginning.

It took months and several doctors to finally find determine what was wrong with her.

“That was one of the harder parts, was just waiting and not knowing," said Kristi Florio.

"I think, you were, the whole time, just hoping and praying there wasn't something wrong," said Steve Florio.

Lia may never learn to speak, and as she gets older, she will likely lose the ability to walk as both her mental and physical capacities regress rapidly.

But that’s not stopping her.

As she undergoes daily therapy and doctor’s visits, her smile rarely leaves her face.

“She doesn’t know. She doesn’t care,” said Steve Florio.

“She’s a happy girl,” said Kristi Florio.

While Lia’s fight continues, the Florio family has learned not to take one day for granted.

"It's helped me to enjoy the day to day-to-day life, and not think about down the road. It's helped me focus on the here and the now,” said Kristi Florio.

The Florios said they believe it’s now their duty to spread awareness and raise money to fight BPAN, so other families dealing with the disease don’t have so many unanswered questions.

The family has set up a website to collect donations that go directly to BPAN research.

Those who want to follow Lia’s progress can follow her fight on her Facebook page.

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