Tag Archives: Bourbon

David Faughn 2019 Eagle Rare Life Award Nominee

David Faughn is honored to be nominated for the 2019 Eagle Rare Life Award. As a nominee, he is in the running to win $50,000 for the NUBPL Foundation to help fund a potentially life-saving treatment breakthrough for patients battling mitochondrial complex 1 deficiency disorder, NUBPL gene. To help him win, David needs your vote – just a simple click of a button with no sign-in or information required. One click; that’s it!

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Read David’s full nomination written and submitted by Regan Blevins:

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.

Dave’s main mission is to save his daughter’s life. When top neurologists were stumped by his little girl Katherine Belle’s unusual brain MRI, Dave asked, “Is there any hope?” Facing the gravest of answers from a baffled medical community, he resolved to fight. He founded NUBPL Foundation, the namesake nonprofit of the mutated gene it supports. Dave’s personal mission has evolved from one with the singular goal of saving his child, to the global mission of his nonprofit: to raise awareness and fund research toward the development of life-saving, life-enhancing treatments and a cure for NUBPL, mitochondrial complex 1 deficiency disorder.

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Dave’s advocacy extends well beyond his own family. He helped hundreds of children in Kentucky suffering from mitochondrial diseases acquire coverage for the only medication known to mitigate their progressive and life-altering symptoms. Children from families forced each month to choose between spending hundreds for their survival or covering rent. When insurance denied coverage for treatment, Dave, a civil litigator, took his fight to the Kentucky General Assembly. In 2016, Kentucky became the first and only state in the union to legislatively require health insurers to cover mito cocktails. Understanding the need for greater awareness, research funding, and patient community support, he and wife co-founded the NUBPL Foundation. Under David’s leadership and devotion to helping families on a similar path, newly diagnosed NUBPL patients, clinicians, and geneticists are finding them and joining a growing global community. David’s efforts ignite hope in NUBPL families around the world.

For all Dave’s admirable qualities, his greatest is undeniably the wonderful father he is. His love for his child transcends to his every action. Perhaps no better illustrated than in his own words:

“Laughter and joy are Katherine’s currency. She spends them freely. I am more alive than I have ever been. I feel more deeply than I’ve ever felt. I see genuine goodness in people around me, in friends, family and complete strangers. People who reach out to lift our spirits and to help us practically and emotionally. I see my daughter in all children and love them for it.”

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In 2017, the NUBPL Foundation partnered with the Children’s Hospital of Philadelphia (CHOP) for their first precision medicine drug discovery and repurposing project with the purpose and hope of delivering a treatment breakthrough for patients. CHOP is a world-renowned leader in groundbreaking pediatric medicine. Douglas Wallace, director of the Center for Mitochondrial and Epigenomic Medicine at CHOP, discovered the first disease-causing mitochondrial gene mutation in a human. Today, an estimated 80,000 Americans are afflicted with mitochondrial disease. While many nuclear genes have been identified to effect mitochondrial disease, the NUBPL gene was recently pinpointed as a critical player in the metastasis of the world’s second-leading cancer killer, colorectal cancer. NUBPL’s role in Parkinson’s disease is yet another identified initiative to better understand the gene. While Katherine’s particular disease is rare, CHOP’s research project undoubtedly has the potential to trigger a far-reaching ripple effect in medical discovery. But medical research is costly. NUBPL Foundation is well over the halfway point in raising the $179,000 needed for this project. $50,000 would nearly get them the funding they need for this critical research.

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1st NUBPL Foundation Fundraiser

Last year we founded the NUBPL Foundation to elevate NUBPL awareness and research. In February 2015, our daughter was diagnosed with a recently discovered form of Mitochondrial disease named after the affected nuclear gene, nucleotide-binding protein-like (NUBPL). As one of 11 identified patients in the world, research is needed to understand more about this disease.

This is an exciting time for our family as we expand our rare disease journey to grow NUBPL’s patient population and fund research and, hopefully, develop a treatment or cures.

We had our first fundraiser at the Haymarket Whiskey Bar in Louisville, Kentucky, on February 25, 2017. Our foundation was selected as one of 200 charities to receive a bottle of Buffalo Trace O.F.C. Vintage Collection, an estimated value of $10,000 per bottle.

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Coordinated by Dave’s cousin, Brian Shemwell, founder and president of the Paducah Bourbon Society, Haymarket Whiskey Bar, Masonic Homes of Kentucky (event food sponsor), and five regional bourbon societies – Louisville, Paducah, Owensboro and Lexington Bourbon Societies and JB’s Whiskey House of Nashville – came together under one umbrella to support our cause, raising a total of $32,000 in ONE night for the NUBPL Foundation from rare bourbon tastings and silent auction items.

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Dave and I were blown away by the level of support we received from event sponsors and attendees. As Dave concluded his speech about our rare disease journey and the NUBPL Foundation, he concluded with these words:

“Whiskey is a Celtic word meaning ‘water of life’ and it’s never been more fitting than this moment. Tonight we raise our glasses of whiskey to save a life. To life.”

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Rare Bourbon for Rare Disease Fundraiser

NUBPL is a form of Mitochondrial Complex 1 Disorder. Discovered just a few years ago that mutations of this gene are disease causing (our five year old daughter has two mutated copies of her NUBPL gene – one mutated copy from mom, one mutated copy from dad), our family wants to know more so our daughter can have treatments and/or a cure.

The bottom line is that we need to fund the research. Researchers need money to study diseases. We founded our very own non-profit, NUBPL Foundation, to do just that. NUBPL Foundation is an all-volunteer (we do all of the work ourselves and for FREE!) non-profit with the mission to elevate NUBPL research and awareness. Simply put, we are raising money to fund research and find other patients with this disease.

We are starting at ground zero with this research. The good news is there are scientists and physicians who want to perform this research, but they need money. For starters, we need to raise $50,000 to purchase a mouse. There has already been NUBPL research performed on plants, but now we need to see what happens when a mouse has NUBPL. There is much to learn from a NUBPL mouse. What is learned from the mouse will determine what comes next.

Rare Bourbon for Rare Disease is our first NUBPL Foundation fundraiser on Saturday, February 25, 2017, at Haymarket Whiskey Bar in Louisville, Kentucky.

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This is your opportunity to taste bourbon from a bygone era – a 1982 O.F.C. vintage-dated bourbon – and fund rare disease research at the same time. Only 50 bottles of this very rare bourbon were ever bottled, placing each bottle’s worth at $10,000. Buffalo Trace released all 50 in 2016 to charities for fundraising. One recipient was The NUBPL Foundation. (For more information, click here.)

The NUBPL Foundation, Inc., is a 501c (3) corporation, funding research for a very rare Mitochondrial disease caused by mutations in the NUBPL gene. This disease causes progressive atrophy of the cerebellum in affected children, among other dire complications, and mutations of the NUBPL gene have also been linked to Parkinson’s disease. The hope is that further research will lead to life-enhancing, life-saving treatments for both NUBPL and Parkinson’s patients.

Be a part of bourbon history while supporting an important cause. Join the NUBPL Foundation and 5 Bourbon Societies – Paducah Bourbon Society, Owensboro Bourbon Society, Lexington Bourbon Society, The Bourbon Society, and JB’s Whiskey House of Nashville – at the legendary Haymarket in Louisville. All ticket holders will enjoy light appetizers provided by our event food sponsor Masonic Homes of Kentucky, Inc.

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There will be three tiers of entry:

Tier 1 – $250 Donation: (Quantity available: 50)
-1 Flight of 4 Rare Bourbons, including OFC Vintage 1982, 20 Year Pappy Van Winkle distilled by Stitzel Weller, a 20 year Willett Family Reserve (barrel C43A), and a 1971 Old Grand Dad.
-1 Bottle of a Special Knob Creek Single Barrel Private Selection

Tier 2 – $100 Donation: (Quantity available: 50)
-1 Flight of 3 Rare Bourbons, including AH Hirsch 16 year, a 21 Year Old Willett Family Estate (barrel 3936, Liquor Barn Holiday Selection), and a 1970s Ancient Ancient Age.
-1 Bottle of a Special Knob Creek Single Barrel Private Selection

Tier 3 – $50 Entry Donation: (Quantity available: 100)
-1 Bottle of a Special Knob Creek Single Barrel Private Selection

Fred Noe, Master Distiller and 7th generation Jim Beam family member, will attend the event from 7-8:30 to sign bottles of the Knob Creek.

This event will also include a Silent Auction, featuring E.H. Taylor Sour Mash, E.H. Taylor Tornado, 2012 Angels Envy Cask Strength, and multiple years of Pappy Van Winkle.

Other items, available via an on-site raffle or live auction, will include gift baskets from Jim Beam, Sazerac, and Four Roses, special bottles of Private Selections from participating bourbon groups, and other donations from bourbon groups.

Tickets are limited.

To purchase your tickets, click here.

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You may also mail donations:

NUBPL Foundation
230 Lancaster Avenue
Richmond, KY 40475