Tag Archives: research

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!

45043824_1147992818703614_8917027142210945024_n

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.

43454551_10217140550408865_745437912622956544_o (1)

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.”

26195697_930740090428889_4315587466308252661_n

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.

45463608_1151371241699105_4479213378589425664_n

Click here to VOTE NOW

Advertisements

#GivingTuesday

Today, Tuesday, November 28, 2017, is #GivingTuesday, a global day of giving fueled by the power of social media and collaboration. Celebrated on the Tuesday following Thanksgiving (in the U.S.) and the widely recognized shopping events Black Friday and Cyber Monday, #GivingTuesday kicks off the charitable season, when many focus on their holiday and end-of-year giving.

18486239_10158599905720456_55607046723782902_n
NUBPL.org

We need your support

We want to take a moment to give you an update on Katherine Belle.

IMG_2284 (3)
Katherine Belle, age 6

You can see from the photos that she’s happy and growing. She’s loving first grade and changing so fast (as is typical at this age). Although she did not have a third MRI, her latest round of testing this fall was mostly “normal,” which is what every parent wants to hear. The only thing that was slightly abnormal was a mild curvature of her spine (neuromuscular scoliosis) – something that is common with disorders of the brain. At this time, all organs other than her brain remain unaffected. This is indeed a blessing.

She continues on the clinical trial drug EPI-743 and her “Mito Cocktail,” both of which have been very helpful for her. She is growing stronger and walking more and more. She is mostly walking upright around our house – still holding on to surfaces the majority of the time, but taking more independent steps in between. It’s amazing to watch this process as her brain rewires itself, opens new pathways, and creates muscle memory. At this point, we can see how the repetition is building on itself and beginning to accelerate.

This experience is hard in many ways because nobody wants to watch their child struggle, but at the same time it’s mind-blowing to watch the process of how the human brain has the ability to reorganize itself when pushed by a resilient human spirit. It’s incredible. Again, this is a blessing.

We don’t want her to fight this alone. We know enough about this disease to know that even the toughest fighters cannot beat a failing human body. She needs our help.

When we first started on this rare disease journey, I recall feeling like we were stuck in the past, medically speaking. Nobody knew what was wrong with our child, let alone how to treat her. Science was on our side for getting a fairly quick diagnosis through whole exome sequencing. We continue to exhaust all possible avenues to help her as quickly as possible, from a clinical trial, to vitamins and supplements, best therapies, educational environment, and now research.

On the days when the fight seems too hard and the fundraising has slowed to a halt, the sound of a ticking clock fills our heads. This part is the hardest of all for us as her parents – wanting to do everything we can to help our daughter while being constrained by a short timeframe to stop the disease progression. It’s easy to look at a smiling, happy, healthy looking photograph of a vibrant six-year old and not think about her future. As her parents, though, it’s all we think about.

Timing is critical. Science was on our side for getting a NUBPL diagnosis; now we hope we can push science to discover a treatment she needs NOW to increase her odds of not regressing cognitively and physically. It’s been 55 years since this first patient was diagnosed with mitochondrial disease and there’s still no FDA approved treatment to help patients like Katherine. We say the time is now and we will do everything in our power to advance the needle of research.

It’s like knowing in advance that your child is going to die in a car crash and having the opportunity to stop them from getting in the car that day. Just as we watch Katherine slowly rewire her brain to overcome her physical obstacles, she inspires us to keep pushing for a treatment that will hopefully come sooner rather than later.

There’s an upcoming article coming out soon that will go more in-depth about the research we’re funding, but we want to tell you a little here today. Researchers at the Children’s Hospital of Philadelphia are using cutting-edge Crispr technology to study zebrafish with Katherine’s NUBPL mutations to learn about the natural history of the disease and test currently available therapies.

Donations made today on #GivingTuesday will help us fund this critical research.

There are two places you can make a donation today to support the NUBPL Foundation:

1) Facebook

2) Children’s Hospital of Philadelphia (Hope for Katherine Belle Mitochondrial Disease Research Fund)

Also, please consider voting for Katherine’s #GivingStory here. Entries with the most votes are eligible to win up to $10,000.

Thank you very much for your consideration.

Sincerely,

Dave & Glenda

SaveSave

Kentucky Gives Day 2017: Support NUBPL Foundation

“Never doubt that a small group of thoughtful, committed citizens can change the world. Indeed, it is the only thing that ever has.”
Margaret Mead

In 2015, our (now) 5-year old daughter, Katherine Belle, was diagnosed with an extremely rare Mitochondrial Complex 1 disease caused by mutations in the NUBPL gene.

The harsh reality is we have a vibrant and amazing five-year old daughter who fights daily with everything she has, but because NUBPL is a recently discovered disease without any available treatments, we do not know what the future holds in terms of her health and disease progression.

As tireless advocates for our daughter, we decided to do more. We founded the NUBPL Foundation to fund research for NUBPL, which causes progressive atrophy in our daughter’s cerebellum, as well as speech and developmental delays.

Katherine is just one of 11 patients in the WORLD identified in scientific research, although we believe the number of confirmed NUBPL patients is likely closer to between 25 to 50. All patients have been diagnosed through Whole Exome Sequencing (WES), and we have no doubt that the NUBPL patient population will continue to increase as more families use WES to diagnosis their children. We have been very public about our story so that we can help clinicians and families better diagnose NUBPL in the future.

Because orphan diseases are rare, they lack support groups and national organizations. And, 95% of rare diseases do not have any FDA approved treatments, including NUBPL. Orphan diseases don’t attract as many research dollars because few people are affected, and for pharmaceutical companies, there’s less incentive to fund the research for a treatment that will not produce a good return on their investment.

Our daughter and other affected children deserve better.

NUBPL Foundation

We have carefully listened to proposals from top researchers from around the country and have decided to fund the promising research of Dr. Marni Falk at the University of Pennsylvania. The Mitochondrial-Genetic Disease Clinic at Children’s Hospital of Philadelphia (CHOP) is one of the top research centers in the nation for Mitochondrial related diseases. This research gives us hope that therapies will soon be developed to help treat the mitochondrial dysfunction of Katherine and other NUBPL patients.

100% of your tax-deductible donation will directly fund the research of Dr. Marni Falk and her team at CHOP to research the NUBPL gene and to develop life-enhancing treatments for the mitochondrial dysfunction of Katherine and other NUBPL patients. 

Our matching gift pool from our Double The Hope partners will match every donation – DOLLAR FOR DOLLAR – we receive from you on April 18, 2017, to ensure we reach our $25,000 goal.

Click on the picture to donate to the NUBPL Foundation:

KY-gives-day-logo

 

How Social Media Impacts Scientific Research

This article in the New Yorker is by far the most important article we’ve read to date that defines our purpose and hope for Katherine Belle.  Thanks to the Mights and Wilseys for confirming what we hope to achieve and proving there are other options than just waiting and hoping science “catches up.”  When parents are given no other option but to create websites and post articles with their genetic data to accelerate research and treatments for our dying children, there is a serious problem with the system.   We are an important part of the diagnostic team and can play a critical role in helping decipher the human genome.  My question is why aren’t more journalists talking about this problem?

Matt Might gave a talk titled “Accelerating Rare Disease.” After describing the effects of his blog post, he told the crowd that it was inevitable that parents of children with other newly discovered diseases would form proactive communities, much as he, Cristina, and the Wilseys had done. Vandana Shashi believes that such communities represent a new paradigm for conducting medical research. “It’s kind of a shift in the scientific world that we have to recognize—that, in this day of social media, dedicated, educated, and well-informed families have the ability to make a huge impact,” she told me. “Gone are the days when we could just say, ‘We’re a cloistered community of researchers, and we alone know how to do this.’

IMG_3681