Rare Leader: David Faughn, Director, NUBPL Foundation
January 17, 2019
Name: David Faughn
Title: Director, Vice President, and Treasurer
Organization: NUBPL Foundation
Disease focus: NUBPL, a mitochondrial complex 1 deficiency disorder, which is a progressive, neurodegenerative disease with no FDA-approved treatments. Patients typically present clinical symptoms between the ages of 3-24 months, including onset neurological symptoms: cerebellar dysfunction – progressive cerebellar and pons hypoplasia, global developmental delay, inability to walk, ataxia, nystagmus, and speech articulation difficulty.
Headquarters: Lexington, Kentucky
How did you become involved in rare disease: I have a seven-year-old daughter, Katherine. When she turned two, we started a lengthy diagnostic journey leading to a rare disease diagnosis. I didn’t have any experience with rare diseases, but suddenly learned my daughter has a life-threatening one with zero treatments.
Previous career: Currently a business litigation attorney
Education: B.S. in economics from the Wharton School and the University of Pennsylvania. J.D. from University of Kentucky
Organization’s mandate: We’re trying to raise awareness and provide research funding for the development of treatments and hopefully a cure for mitochondrial complex 1 deficiency caused by the NUBPL gene.
Organization’s strategy: NUBPL was only discovered as a disease-causing gene in 2010 while my wife was pregnant with our daughter. It’s within the family of mitochondrial diseases that ends up covering dozens, if not hundreds, of different subsets. NUBPL is fairly hard to diagnose. So far, patients have only been diagnosed through whole exome sequencing and insurance is iffy about paying for it. When we got our diagnosis in 2015 after a couple years of exhaustive diagnostic testing, we didn’t immediately have another NUBPL family to contact. There was no patient organization for this particular type of disease. We had nobody to turn to ask, “What is your child going through? What do we have to expect?” All we had was a paper published around 2012 that had some clinical notes about the first five known patients. That’s all we had.
When we were undiagnosed, we connected with other rare disease families, created a blog, and got our name out in the rare disease advocacy space. When we finally got a diagnosis, we immediately started searching for other NUBPL families to grow a community. We did that by doing something referred to as a “reverse dragnet.” Instead of looking for patients, you get yourself out there as widely as you can so when new patients get the same diagnosis, they can find you. We would’ve loved to have had that when we first were diagnosed in 2015, so we wanted to build that for other families. We’ve made a conscious effort to try to get out there in the press. We have a blog. We’re active on social media. We were in The New York Times Motherlode Blog. We had an article in The Penn Gazette, which is the alumni magazine for the University of Pennsylvania. We’re at the top of Google searches, so when a family gets a diagnosis, they can find us, just like we wish we could’ve done on diagnosis day. It took a while, but with the reverse dragnet strategy, we have grown our patient community and they’re coming in the door. It has been a slow process, but our strategy is working.
A second focus is working with physicians to help get the word out about clinical symptoms, so they know what they’re looking at when they see it. For example, our daughter does not present like a typical mitochondrial disease patient. It turns out there are some characteristics to look for that if the doctors see them, they’ll now know to suspect mitochondrial disease.
Funding strategy: Right now, we’re trying to raise money to fund research for a treatment breakthrough. As with the majority of rare diseases, there are zero FDA-approved treatments. Thus far our method of fundraising has been grassroots. Facebook is a great fundraising platform for our families. We were selected to participate in the Million Dollar Bike Ride for Penn Medicine Orphan Disease Center and hope to generate more grant funding for research. We are reaching out to a younger generation in schools and colleges to educate them about our mission. A local university fraternity has taken on our foundation as their philanthropy organization. As we grow our community, our families are coming together to fundraise for research. They are motivated and incredible. Everyone brings something new to the table and it’s great to see how they raise awareness and funding in their own communities. Doing it together for a common cause builds hope within our community as a whole.
We’re in Kentucky. We’ve done some fundraising that incorporates our local, beloved product bourbon and we’ve had several successful bourbon-related events, including a tasting party with a silent auction and some very rare bourbons that raised about $30,000 in an evening. We’ve had a local distillery called Buffalo Trace donate a very, very rare and pricey bottle of bourbon for that. We’ve had a couple liquor stores donate bourbon bottles that we’ve used for silent auctions at fundraising events. We had a local distillery called Bourbon 30 release a special barrel of bourbon bottled in our daughter’s honor and they’re donating the proceeds to our research.
What’s changing at your organization in the next year: A focus is growing our scientific advisory board. We are in the midst of funding our first research project at the Children’s Hospital of Philadelphia and we hope to have that fully funded in the next several months. Building our patient registry is another priority.
Management philosophy: Keep my wife happy. She’s the president and the big boss. It’s just the two of us because our operation is lean, so we have to work together. She’s smarter than I am and better at this than I am, so I do whatever my wife says.
Guiding principles for running an effective organization: We try hard to be responsive, transparent, open, honest, and to work in collaboration with our families. We get contacted by people who are new in the NUBPL journey. They’ve just received a diagnosis and they’re like we were at the beginning, and like we are periodically even now. They’re scared. They’re new to this. They don’t know what this means. They don’t know what to do next. They don’t know if there’s any hope, and we want to be responsive. When they contact us, we want to immediately contact them back and be open and honest with them about what we’re looking at, what the barriers are for treatments, and show them there’s hope and a community here to support them.
Best way to keep your organization relevant: We hope we find a cure and soon become irrelevant, but in the absence of something miraculous like that, we strive to remain active, visible, and creative so families continue to find us and see the benefit of joining our community.
Why people like working with you: I am really responsive, and my wife is really responsive. We want to help people. We want to give them as much information as we can, both scientifically and as family members. Most of the people finding us right now are terrified and we want to be there for them and let them know that there is hope. We don’t know what the future is for our kids with this particular disease, but there are reasons to hope, reasons to fight, and there are reasons to find joy in their situation. We are sympathetic to what they’re going through. We’re not a big bureaucracy and we get back immediately.
Mentor: Matt and Cristina Might are our biggest mentors. They’re part of the NGLY1 community and when we were early on in this, we had a misdiagnosis that left us floundering about for a year-and-a-half, not knowing what our daughter had. My wife stumbled on the Mights through some of their articles. They were really inspiring to us because we were in a similar position as they were at the beginning, and we reached out to them even though we were not an NGLY1 patient. They were immediately responsive to us and were very helpful and very informative. They’ve laid the groundwork for us and helped lead us step-by-step through the process of creating a reverse dragnet and finding researchers. They’ve helped guide us through all of that, and they’re wonderful people. We couldn’t have done it without them. I probably wouldn’t have realized you can take control of your own medical condition and your own research and be at the forefront of that. I probably would’ve just gone home and waited for research out there to catch up to us and not realized I could go out there and fund my own research if it were not for Matt and Cristina.
On the Job
What inspires you: My daughter, first and foremost, and the other NUBPL patients. They face some incredible obstacles, things I’ll never have to overcome in my own personal life and they face it every day and almost invariably with a strength and resolve and an attitude that’s truly inspiring. My daughter’s tough. She has no balance and falls all the time. She falls 10 times and gets up 11 times. She does it every day with a smile on her face and pushes through all the obstacles in front of her. She’s truly an inspiration. If she can do that, then I can push forward with whatever obstacles I run into in my life.
What makes you hopeful: The rapid pace of genetic research makes me hopeful. With CRISPR and some of the new technologies with laboratory testing of FDA-approved drugs on a mass scale. We’ve reached the point that patients can fund research in a way they couldn’t five years ago, much less 10 years ago. We have research projects where they’re creating animal models of our exact disease and testing medications on them. That couldn’t have been done five years ago, and who knows what can be done five years from now, what the state of science will be then, but that really makes me hopeful that we’ve reached a new era of medicine.
Best organization decision: I think it was getting started in the first place. My tendency, or my thought process, before we started this, was when you’re sick and diagnosed with a medical condition, you just go home and do what the doctors tell you to do, and hope research comes up with new treatments. With her first misdiagnosis, the doctors told us there was no research in the pipeline and my daughter was going to die before anything would be able to reach us. My best decision with working with my wife and being inspired by Matt and Cristina Might was to do something, to get up, and not wait for science to come to us, but to go to science. Find the patients, find the researchers yourselves, put together a team that’s willing to look at our exact disease, and fund it. Instead of passively waiting for science to catch up, we decided to actively push scientific research.
Hardest lesson learned: I guess that’s a hard one. It’s hard to raise money. It’s hard to get people to donate and it’s hard to know where best to spend your money on the fundraising side, so I think we’re still learning how to do that. Our goals right now are small but takes up so much time and energy to raise $10,000 here or $5,000 there, so that’s the hardest thing to learn how to do.
Toughest organization decision: The toughest organizational decision so far has been who to fund, what research to fund. We spent about six months looking, interviewing researchers, and looking for a research team. There are many promising options or what appear to us as non-scientists to be good options. Trying to figure out where to spend your limited resources has probably been the toughest decision we’ve had to make, especially since lives are on the line and the clock is ticking.
Biggest missed opportunity: I don’t know if we’ve missed an opportunity. The closest I could say is we’ve got some research opportunities out there that we haven’t been able to fund. I would like to fund everything, but it’s hard to raise money. We just don’t have the resources to fund everything at once.
Like best about the job: Working with the other families. I like meeting them. I like helping them, sharing what we’ve been through, and collaborating with them.
Like least about the job: What I like least about the job is fundraising. Some of it’s fun, like the bourbon-related events where you put together a nice party and people want to spend money for good cause. For other types of fundraising, like the upcoming bike ride, you have to ask individuals and organizations for donations and sponsorships, and that’s just hard for me to do. It’s just not the way I’m wired. To try to save my daughter’s life, we’ve got to do it, but that’s the hardest part.
Pet peeve: My pet peeve is when people aren’t responsive. I’d rather have somebody tell me “no” than to not respond to me at all.
First choice for a new career: I’d be an author.
Most influential book: My favorite book of all time that has inspired me the most is Adventures of Huckleberry Finn by Mark Twain.
Favorite movie: Unforgiven
Favorite music: ‘80s funk and ‘80s college bands
Favorite food: Seafood
Guilty pleasure: Watching football
Favorite way to spend free time: Playing with my daughter. She is a very funny little girl. I love spending time with her and my wife.
January 17, 2019
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