Fundraiser could help shine a light on rare diseases

Lia Florio is inviting you to dine at one of her favorite restaurants — actually, her mother is inviting you to dine at one of her favorite restaurants because Lia is still in preschool and dinner parties are really more of a K-12 affair.

Anyway, if you like chicken and philanthropy, then consider this a win.

On March 1, patrons of the Chick-fil-A on North Atherton Street in State College can present a flyer at the register to ensure that a portion of their bill will be donated to the NBIA Disorders Association. The acronym fronting that rather prestigious-sounding name stands for Neurodegeneration with Brain Iron Accumulation, the umbrella term for a group of rare neurological disorders like the one Lia was diagnosed with early last year.

BPAN — or beta-propeller protein-associated neurodegeneration if you’re feeling ambitious — causes developmental delays paired with the onset of dystonia-parkinsonism and dementia in adolescence or adulthood.

Kristi Florio, Lia’s mother, said that she and her husband have grown more adept at walking friends and family members through the particulars of the disease.

“We’re better at it. I feel like we’re still learning stuff,” Florio said.

The same goes for their 3-year-old daughter. Lia is more ambulatory now than when the CDT visited her last July, shortly after the Make-A-Wish Foundation installed a playset in the family’s backyard. She was up on both feet then but had yet to establish much of a success rate when it came to putting one in front of the other.

Now when it’s time to leave for school, Florio has to worry about Lia chasing her around the house with a jacket.

Other, more specific requests — like graham crackers or applesauce — are tendered with the benefit of a technological assist. Lia is non-verbal and uses pictures and the synthetic voice of a ProxTalker to communicate.

“This is our normal,” Florio said.

Their “normal” might have to settle for being a little less atypical. An additional 38 cases have been identified since Lia received her BPAN diagnosis last January. The grand total hovers at just less than 100 people and NBIA Disorders Association President Patricia Wood attributed the growth to a rise in testing.

The Florio’s set up a Facebook page last winter to keep people apprised of Lia’s status and visitors helped raise $10,000 for the NBIA association. It’s not exactly an original story.

“Our fundraising is done mainly by our NBIA families in their communities. Their friends, families and neighbors support their efforts and they raise awareness in the community through their efforts. It is extremely difficult to get funds from foundations and companies unless there is a personal connection,” Wood said.

Florio had more time to plan for this year’s fundraiser and decided to place it in close proximity to Feb. 28 — or the 10th annual Rare Disease Day. On March 1, Chick-Fil-A will donate 15 percent of all sales made with a flyer to the NBIA Disorders Association.

Wood said that attention drawn to rare diseases can have long reaching benefits.

“We all benefit from the growing awareness of how many individuals are affected by rare diseases (1 in 10 in the United States with over 7,000 diseases) and the growing knowledge that what researchers learn about rare diseases that are often single gene defects can translate into knowledge that can be used to help far more common diseases,” Wood said.

This story was originally published January 26, 2018 at 2:08 PM with the headline "Fundraiser could help shine a light on rare diseases."