eb2016af1I’d first like to admit that I’ve been struggling to write this blog post for a week… How can I convey all the exciting progress presented at the USF Symposium and the warm support shared at the FARA Energy Ball? In short – I can’t. Words and pictures on a website can’t do justice to the surreal experiences I shared last week in Tampa, Florida. So rather than try to capture all the emotions of those three days, I will report on the scientific progress (for those that missed the live stream video), and describe the basic flow of the weekend, in hopes that it will inspire others to attend next year.

We began the symposium with Dr. Judy Genshaft, President of USF, welcoming everyone to Bull country and reminding us of USF’s commitment to developing a cure for FA. Then Dr. Zesiewicz (Dr. Z!) of the USF Ataxia Research Center provided a quick overview of major clinical trial results over the past year. At previous symposiums, this is where researchers would speak about results in their own labs but… Surprise! …the patients stole the show. Alison Avery, Anna Gordon, Sean Baumstark, and myself took the spotlight to talk about our experiences participating in research studies and clinical trials. There were some laughs, some tears, a few on-stage selfies, and always a great perspective into different journeys living with FA – we made sure the audience got what they paid for! (Which was nothing since the symposium was free and open to the public!) But our stories only tell half the story… Kyle Bryant joined us on-stage to moderate open discussion with key researchers and clinicians working on FA research and developing potential treatments. These discussions were split into four 15 minute sessions, which deserve a description below: 


(Disclaimer: I am not a scientist and apologize for any inaccuracies as I describe all the on-going research and drug development. I also personally apologize to the extraordinary scientists we shared the stage with – most are distinguished with a PhD but I will refer to them by their names for ease of reading.)

The first group included Hélène Puccio, Marek Napierala, and Jordi Magrane. These amazing scientists are working at the source, discovering the science and mechanics that drive FA. Helene has been working in the FA field “since the beginning”. She developed the mouse model for FA, which allows other researchers and drug development groups to perform early testing on a living FA system, without posing risk to a human patient. Marek works to better understand that nasty GAA repeat we all know too well – specifically, why does that repeat mutation lead to silencing and repression of the frataxin gene? Jordi is new to the field, but brings a wealth of experience in mitochondrial dysfunction and the correlation to neurodegeneration. The discoveries by this group are critical for the development of potential treatments and their findings suggest it may be possible to not only stop progression, but rescue and improve some lost function.

eb2016af9The second group of Mark Payne and Barry Byrne work downstream; taking the scientific discoveries and developing potential treatments to address the issues introduced by FA. As a cardiologist and researcher, Mark and his team are developing techniques for replacing frataxin protein that is deficient in FA patients. Barry also works to increase frataxin in FA patients, but by using gene therapy approaches to allow a patient’s own cells to produce more frataxin. This panel is a perfect example of how 1) understanding the basic science (known frataxin deficiency) leads to a targeted therapy approach and 2) how multiple paths can work in tandem to achieve a similar outcome (restore frataxin levels).

Kim Lin, Angelical Martin, and Christophe Lenglet joined us for the next panel to discuss biomarkers. This group works tirelessly to determine what we can measure to track FA progression. Biomarkers are critical to the success of clinical trials, because well-defined biomarkers can tell researchers if a potential treatment is or is not working. During a short-term trial, this dramatically speeds up development as researchers can make data-driven conclusions well-before effects may manifest fully into clinical symptoms. As a cardiologist at CHOP, Kim investigates exercise tolerance and cardiac MRI as biomarker testing for FA. In her graduate thesis, Angelical also investigates cardiac function as a biomarker, but is looking at proteins in the blood as a potential predictor of cardiomyopathy. Christophe takes yet another approach with high intensity MRI imaging to “see” neuron structures and link their changes to disease progression. I call this a diversified portfolio of biomarkers!

Our final panel was comprised of Martin Delatycki from Melbourne, Australia and the infamous David Lynch from CHOP (who shared his birthday with us!). Both are clinicians leading natural history studies, biomarker studies, clinical trial investigations, contributing with their own scientific research, and getting very little sleep! These two take the potential therapies developed from basic science, and facilitate the clinical trials in FA patients. They test key biomarkers, specific to each study, that tell research groups, academic labs, and pharmaceutical companies, if a therapy is safe and effective at treating FA. Their tireless efforts and the fast response from the patient community to enroll and participate in studies/trials keep the development process moving quickly toward an approved treatment.

eb2016af2The symposium ended with Ron Bartek counting down the top 10 aspects of FARA, the FA community, and the dedicated scientists, that are instrumental to our success. I was left with one thought leaving the symposium: it isn’t just we will cure FA... it is-TOGETHER, we will cure FA! The collaboration between researchers and involvement of the patient community are paramount to our success.

As the researchers spent all-day Friday (>80 researchers from around the world, academic and pharma), meeting and sharing data on biomarker studies, we had some much needed rest to prepare for the Energy Ball on Saturday. I dressed in my finest suit, and even managed to iron my shirt and tie without burning myself. Good thing, because the crowd at the Energy Ball was dressed to impress! Everyone arrived in downtown Tampa and immediately started mingling during the cocktail hour and silent auction. And when I say crowd, I mean CROWD – researchers, FA individuals, families, donors, friends, neighbors, business partners, FARA supporters… there must have been 50,000 people there! (may be a slight exaggeration… closer to 750 people). Patrons started the donations by bidding for items in the silent auction using a live app on their phones. There were so many auction items, the tables holding them stretched further than Tom Brady could throw a football! (Yes, I am a Patriots fan, and that is pretty far.)

eb2016af5After meeting fantastic new faces, sharing laughs (and selfies), we took our seats for a delicious steak dinner. While we were eating, our emcee and auctioneer were hard at work raising money for FARA to support research and drug development. Live auction items included getaways to tropical paradises, remote mountain escapes, premier golf courses, and major league sporting events! But what was most impressive was the Fund A Cure live donation drive. For nearly 30 minutes, generous donations were made directly to FARA and the live total was continually displayed on screen. At the first bite of salad, the screen read $48,365… at the end of the salad, $132,479… on to my steak, at $248,847… potatoes pair nicely, bringing us to $384,592… finish my steak with $486,073… by the end, over $550,000 raised! In the end, through sponsorship, dinner tickets, silent auction, live auction, and direct donations, over $2M was raised for FARA!!! That money funds research labs to find new discoveries, supports therapy development to produce and test new potential drugs, and funds the travel and testing costs for clinical research patients participating in trials that validate potential drugs to an approved treatment.

eb2016af4The night culminated in a well-deserved celebration with dancing and live music by Blonde Ambition. The FAmily flooded the dance floor and even joined the singers on stage, feeding off the energy from the night. As I staggered back to my hotel room (from FA, not from the beer…) one conversation stood out in mind – I will paraphrase here because it is the closest I can come to sharing what I felt in this community:

Patron: “My family and I saw you speak the other night at the symposium. Thank you so much for having the courage to share your story with us. We are always inspired when we hear from the patients.”
Me: “Thank you. I’m honored to be invited and given the opportunity to add to this community. How are you connected with FARA? Does someone in your family have FA?”
Patron: “No. There is no one close to us with FA.”
Me: “Are you working with one of the researchers? Associated with a lab or pharmaceutical company?”
Patron: “No. We are not involved with any of the on-going research.”
Me: “Then may I ask what brings you here each year?”
Patron: “We truly believe in this cause. We wanted to get involved with a challenge and be part of the solution. When we first came in contact with FARA, we felt connected to the community. Experiencing the strength from patients inspires us. Hearing the dedication and progress from the researchers, gives us hope. We go to the symposium because we want to know what progress has been made to get us towards a cure.”

… I realized a key distinction from this dialogue: FARA does not have supporters, they have investors. They are not just supporting FARA’s mission, they are invested in it. They are not supporting work towards a cure, they are invested in finding it…

I went into the weekend expecting to meet some new faces and raise money for FA research, but I left as part of a dedicated, compassionate community, driving progress forward beyond hope and into reality. As I closed my eyes Sunday night, I said to myself “I am lucky to have FA”… who says that about a rare disease?!