NUBPL News

A unique holiday light display in Delaware is gaining a lot of attention around central Ohio, and now they’re using their local fame for a good cause. More than 130 homes in the Glenross neighborhood are all decked out with lights synchronized to Christmas music on 94.1 FM. The display took more than 500 hours to set up and program and has become one of the area’s must-see holiday attractions. Now, the neighborhood is hoping its popularity can help one if its young residents. A little girl named Lucy, who lives in the area, has an extremely rare mitochondrial disorder known as a NUBPL deficiency. It is a progressive neurodegenerative disease that affects children and there are no FDA-approved treatments. Lucy was diagnosed with NUBPL earlier this year, and now her family and her neighbors are working to raise awareness about the disorder and help fund research so that Lucy and other children living with NUBPL may one day have access to life-enhancing treatments and maybe even a cure. The residents of Glenross realized that they could use their spectacular light display to do more than spread holiday cheer. While their light display is free to spectators, they’re asking that anyone who comes out to see the lights to consider donating to Lucy’s fundraiser for NUBPL research. Even the smallest contribution can make an impact. Read the Article Here

Richmond’s Dave Faughn has been nominated for the 2019 Eagle Rare Life Award for his devotion to finding a diagnosis and cure for his 7-year-old daughter Katherine’s rare genetic disease, NUBPL. If he wins, Faughn will receive $50,000 for the NUBPL Foundation, the non-profit he co-founded with wife Glenda McCoy to save his daughter’s life and others like her through cutting-edge genetic medical research. Katherine was born in 2011 and developed normally until one. “Her motor development plateaued,” said Faughn. “She wasn’t walking, and Glenda really thought something was wrong.” Her intuition proved correct, and Katherine began physical therapy at 18 months. Still unable to walk at her two-year pediatric check-up, she was referred to the Cincinnati Children’s Hospital’s neurology department, undergoing a brain MRI. Faughn received a doctor’s call with morbid results. Katherine’s cerebellum was abnormally small. She was misdiagnosed with infantile neuroaxonal dystrophy (INAD). She was likely to die before her 10th birthday, after losing her ability to move, speak, swallow, see and hear. “The day I got that call was the worst day of my life,” said Faughn. Read the Article Here

What began as a father’s desperate pursuit of a diagnosis for his daughter’s mysterious disease has evolved into David Faughn’s life-long commitment to pioneering medical research and promoting legislation to ensure medical coverage for affected patients. David Faughn embodies character. Of the many characteristics encapsulated in the Eagle Rare Life Award, character stands out as all- encompassing. And Dave is truly a living example of each. His relentless devotion to finding a diagnosis and cure for his daughter’s rare genetic disease, NUBPL, named for the mutated gene causing her cerebellar atrophy, is testament to his immeasurable dedication. Indeed, his devotion inspired him to found the nonprofit, NUBPL Foundation, to raise awareness, network with families with similar diagnoses, and fund research. Dave exudes courage in coping with his only child’s diagnosed rare genetic disease of unknown prognosis. While many would resign to grieve this powerlessness, Dave has risen above his own circumstances, battling endless roadblocks by insurance companies and state legislation alike for the sake of his precious Katherine. His fight gave way to lobbying and co-authoring legislation mandating insurance coverage of a particular therapy, “mito cocktail”, rendering his home state of Kentucky the first in the U.S to do so, benefiting hundreds of families affected by some of the hundreds of known mitochondrial mutations effecting disease. Dave is undeniably both leader and hero to families in Kentucky and beyond who are touched by mitochondrial disease. Survival is a word all too close to Dave’s family’s heart. His tireless advocacy will no doubt one day ensure the survival of many. Read the Entire Article Here & Vote

Nonprofit organizations participating in Kentucky Gives Day raised a collective $222,195 on April 18 in the state’s fifth annual 24-hour online giving campaign. The event now stands with $1,335,300 raised by participating nonprofits over five years. This year brought together 1,808 donors who made over 2,000 gifts to 139 nonprofit organizations – all on a single online site, kygives.org. Most Funds Raised in 24 Hours 1 Hindman Settlement School $13,255 2 NUBPL Foundation $10,565 3 Strive Inc. $10,082 4 Franklin County Women and Family Shelter $7,966 5 The Prichard Committee for Academic Excellence $6,940 Read the Entire Article Here

David Faughn entered parenthood the way many fathers do: suddenly, hopefully, and at a bit of a loss about what to do. Katherine lay on her mother’s belly having spent 40 weeks within it. Her father was a foreigner to her. Or that’s how it seemed to Dave. The “ten months of uselessness” he had felt during Glenda’s pregnancy had not ended in the delivery room, he thought, just taken on a new form. He was as helpless as any new father. Helpless to feed her, helplessly unfamiliar to her, helplessly in love with her, already. The family’s swift release from the hospital, bearing as it did the shock of responsibility, intensified the sensation. “At first, we were strangers looking at each other,” he later recalled in a blog post: “me trying to figure out what to do, and she trying to figure out where mommy went.” But a bond was forming. Its profundity hit him one day on diaper duty. Katherine lay on the changing table while Dave made goofy faces, fishing for a smile. She unleashed a raucous belly laugh, a laugh as full-throated as Glenda’s. Dave “literally jumped in the air” and called Glenda in a rush of excitement. Her bemused response didn’t dent his elation. “At that moment, I became ‘daddy,’” he wrote, “and to the most wonderful girl who has ever been or ever will be.” Read the Entire Article Here