Play set is a wish come true for Boalsburg girl with genetic disorder

Lia Florio has a smile that takes up a lot of real estate — not as much as the brand new play set in her backyard, mind you — but it’s still pretty close.

Both are a reminder that good things can come to those who wait, even if you are only 2  1/2 years old and in possession of a rare genetic disorder.

The proper term is beta-propeller protein-associated neurodegeneration, and according to Lia’s mother, Kristi, there are somewhere between 100 and 200 documented cases worldwide.

Last January, Boalsburg became another dot on the map.

“It was pretty hard the first day… But she was still herself… Still smiling…,” Steven Florio, Lia’s father, said.

He and his wife waited almost six months for that smile to appear. Developmental delays in Lia’s motor skills and speech were among the disorder’s first symptoms.

She’s walking now — and can actually chase a deflating balloon around the house with the best of them— but her muscle strength will continue to diminish with age.

“It’s another reason I wanted to get the swing set, to keep her mobile and keep her strong,” Kristi said.

It also looks like a lot of fun, if that counts for anything. A kid could do worse than a steep slide and a sturdy climbing wall.

Both were supplied by the folks at Make-A-Wish Greater Pennsylvania and West Virginia, who threw in a couple of swings for good measure.

So far, it’s been a huge hit with the household’s youth demographic. Lia prefers to brave the slide in the company of her mother.

“She has a huge smile on her face when I take her down it,” Kristi said.

Lia’s other appointments take her a little farther abroad. She attends speech therapy at Mount Nittany Medical Center and has been riding horses to help with her movement.

Then there’s the list of hobbies.

“She loves music. She loves books. She loves the swings,” Kristi said.

Shortly after Lia’s diagnosis, Kristi and Steve found a Facebook page made up of other people affected by BPAN, a roll call of names and faces hailing from places such as Mechanicsburg, Sweden and the Netherlands.

A medical conference they attended in Chicago revealed a similarly diverse landscape of age and mobility. Parkinsonism, dystonia and seizures are all common symptoms of the disorder that become more prevalent in young adulthood.

Outwardly, at least, Lia seems to defy the profile. She likes to dance, employing a signature move that involves holding both hands behind her back and swaying like a palm tree in the breeze. In the fall, preschool will beckon.

Beyond the parameters of her diagnosis, the future is uncertain.

“Even if we don’t know what’s at the end of the path, at least we know that path,” Steven said.

This story was originally published July 20, 2017 at 5:03 PM with the headline "Play set is a wish come true for Boalsburg girl with genetic disorder."