Tag Archives: Philanthropy

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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Today is Kentucky Gives Day 2018

TODAY is Kentucky Gives Day, an online 24-hour annual fundraising event bringing charities and Kentuckians—near and far—together for a powerful day of action.

Last year, the NUBPL Foundation won 2nd place overall for most funds raised in 24 hours. Impressive! With your donation TODAY, we aim to win 1st place and win an additional $1,500 for research. In case you missed it, here’s an in-depth article from The Pennsylvania Gazette about the critical research you are supporting.

Research dollars are difficult to come by for rare diseases, and your generous donation goes a long way toward helping us meet our goals. NUBPL is a progressive disease with zero FDA approved treatments. Once the brain cells have died, there is no bringing them back.

We are racing against time to save our children. 

As the parents of a six-year old affected by this devastating disease, we cannot thank you enough for supporting our cause and helping keep hope alive for her future. Thank you!

Click here to make your tax-deductible donation. 

2017 Bi-Annual Report

For the past few years we have given an annual update in December, but so much has happened in the last few months that we want to share with you today.

Many of you have been on this journey with us since the very beginning when we started this blog in January 2014 after learning that Katherine had a rare disease that affected her cerebellum. In those early days, this blog was an outlet for our immense grief after being told by two doctors that our daughter had a quickly fatal disease.

It is soul-crushing.

Slowly, we made our way to research, awareness, advocacy, and thankfully, in February 2015, an accurate diagnosis of Mitochondrial Complex 1 Deficiency (NUBPL gene).

The only word we’ve found that best describes the last four years is journey. On this journey, we have learned that adaptability to change is key to moving forward. I am proud of what we’ve learned and accomplished amidst very difficult circumstances. I am also thankful for each of you who’ve followed along and continue to cheer for our daughter while lifting us up on our darkest days. You are an integral part of our story.

From the beginning, we knew that we needed to be Katherine’s voice in order to give her hope for the future. Isn’t that what we all want for our children? Sometimes that means something more or different depending on the circumstances. In our case, the task at hand – our greatest hope of all – is to give our child a treatment and cure for a disease that threatens to take her life sooner than any parent should have to imagine.

If someone is threatening to kill your child, most parents wouldn’t ignore the threat. I believe that most would try to prevent it – to go above and beyond to protect the life and well-being of their child. Mitochondrial Disease is threatening our daughter’s life and we have to stop it. We are on a mission to find a treatment and cure.

2017 Bi-Annual Report

1. Founded the NUBPL Foundation, Inc. to raise awareness and funding for Mitochondrial Complex 1 Deficiency (NUBPL gene).
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2) In February we had our first fundraiser, Rare Bourbon for Rare Disease. The event grossed $32,000. There is a nice write-up about the event here: The Spirit of Giving, Paducah Life Magazine
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3) Traveled to California to meet another NUBPL family (The Spooner Family) at UC-Irvine – first time two NUBPL families have ever met. We met with Dr. Virginia Kimonos and other mitochondrial disease researchers at UC-Irvine and toured their lab.
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4) I continue to write advocacy articles for The Mighty Publication and we hope to participate in a legislative advocacy webinar in the coming months to help others advocate for Mitochondrial Disease legislation. My latest article for The Mighty is here.

5) We are growing our NUBPL community and are now in contact with another family in Canada and will meet another one in two weeks – the first non-sibling match to our daughter in the world. The more families we can connect with, the more we can learn from one another and fundraise for treatments together.
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6) In April we participated in 2017 Kentucky Gives Day and received the second highest donations in the state, netting $10,565 (and receiving $1,000 for second place).
KY-gives-day-logo7) Katherine entered the extension phase of the EPI-743 trial and continues on the drug today. We made several trips to the NIH and presented our journey to attending NIH physicians.
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8) In June we with researchers at the Mitochondrial-Genetic Disease Clinic at the Children’s Hospital of Philadelphia (CHOP) and toured their laboratory.
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At this point on our journey, we are tackling the daunting challenge of major fundraising. Ideally, we would like to fund all NUBPL research, but at this point we feel the best approach is to research the natural history of NUBPL and to do so as quickly as possible so that a therapy can be determined to help Katherine.

In addition to our NUBPL Foundation GiveGab fundraising platform, we have established the Hope for Katherine Belle Mitochondrial Disease Research Fund at the Children’s Hospital of Philadelphia (CHOP) to immediately begin researching the natural history of the disease through various animal models.

Every donation matters and is greatly appreciated. Every donation is tax-deductible. Every donation advances critical mitochondrial disease research that will help not just Katherine but countless others. The approach being used will test many strategies that are hoped to be used for other mitochondrial diseases. The natural history studies are necessary to set a baseline against which they can measure the efficacy of the therapies, which show promise across mitochondrial diseases.

We whole-heartedly believe in this research and will keep moving forward to give Katherine and others affected by this disease the best chance at life. We hope you will continue to walk with us as we venture into this critical aspect of our journey. We’ve come so far in four short years;  I truly believe that, together, we can fund a treatment.

Please consider making a tax-deductible donation today to the Hope for Katherine Belle Mitochondrial Disease Research Fund.

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