RARE Daily

Rare Leader, Cara O’Neill, Co-Founder and CSO, Cure Sanfilippo Foundation

October 8, 2020

The Basics
: Cara O’Neill

Title: Co-founder and chief science officer

Organization: Cure Sanfilippo Foundation

Social Media Links:

Disease focus: Sanfilippo Syndrome (also known as MPS III) is a rare, progressive, and fatal disease affecting 1 in 70,000 children. It is a genetic condition that affects the metabolism of complex molecules and results in severe damage to the entire body, but most significantly to the brain.

Headquarters: Columbia, South Carolina

How did you become involved in rare disease: I was dropped into the deep end of rare disease when my daughter Eliza was diagnosed with Sanfilippo syndrome Type A in 2013.

Previous career: Pediatrician, medical director of South Carolina Passport Health

Education: B.A. biology /biological sciences from the University of Delaware, M.D. from West Virginia University School of Medicine, pediatric residency at the University of South Carolina School of Medicine.

The Organization
Organization’s mandate
: To advocate for and fund research directed towards accelerating a cure and treatment options for patients with Sanfilippo syndrome.

Organization’s strategy: Fundraising to support the mission is a fundamental aspect of nonprofit work and our team works hard to reach donors, help them learn about Sanfilippo and give them an opportunity to make a difference in advancing the path to treatments and a cure. We pursue collaborative engagements with scientists, doctors, and industry to bridge gaps in understanding, resources, and patient engagement from the ground floor up in drug development. We lead initiatives and support the development of tools that help therapeutic development move faster and more efficiently. And we collaborate with other non-profits on shared mission driven interests.

Funding strategy: We fund research ranging from basic science to clinical trials across a wide spectrum of therapeutic strategies, like gene therapy, stem cell therapies, substrate reduction, treatments to address secondary storage burden reducing inflammation, exploration of neurotransmitter impairments, and more. Sometimes this also means commissioning new animal models to allow testing of certain approaches. We have now developed an immunodeficient MPS IIIA mouse model and multiple patient specific MPS IIIA and MPS IIIB fly models. Looking at the full scope of what is needed to move children closer to treatments at the earliest possible age, we also support programs that reduce the time to diagnosis via in-kind support of physician education and funding support for newborn screening efforts. We are increasingly looking to expand our wraparound approach to other aspects patients’ lives and the research needed in those spaces.

What’s changing at your organization in the next year: We anticipate the initiation of two new clinical trials. We also plan to put out more specific calls for our next cycle of research proposals around gap areas we have identified.

Management style
Management philosophy: Bring all your ideas to the table.

Guiding principles for running an effective organization: Keep the mission at the forefront of everything you do. Remember who is counting on you to do your job well. Respect the different life experiences that people bring to the table. Lessons learned and the challenges we face often form the basis for the most effective and insightful contributions.

Best way to keep your organization relevant: Keep talking to everyone in your disease space and beyond, but most importantly to patients and families. Keep asking yourself where the gaps are and how your organization is prepared to fill them or collaborate with others on shared initiatives.

Why people like working with you: People feel my passion and urgency to make a difference for the children and families. They appreciate the combination of authentic perspectives (mother to a rare child, pediatrician, non-profit founder and leader) that are inherently a part of everything I do. This allows me to approach collaborations in a more holistic way, adding new ideas and unique value to the team. Most recently, I have been particularly focused on clinical trials and the endpoint design aspect of developing treatments for Sanfilippo syndrome.

Mentor: It would be impossible to pick just one. There are so many people whom I have had the fortune to meet, follow, and work alongside in the rare disease space. I have been grateful to learn from all of them and we can all be inspired by the work they are doing. They are moving mountains.

On the Job
What inspires you
: I am inspired by families who want to work the problem with us—families that still find a way to be happy and carry on despite the utter heartbreak of this disease—families who even after their child passes away are fierce advocates. I am also inspired by scientists, doctors, and others in the space who want to dig in deep and commit to solving Sanfilippo not just for us, but with us.

What makes you hopeful: Catching a spark of recognition in my daughter’s eyes, feeling that moment of shared connection, seeing that hint of a smile appear. Those are things that give me hope on a personal level. I am also hopeful about how the rare disease community will change the landscape of drug development over the next decade—these include things like meaningful patient engagement in the process (not just lip service), addressing disparities in access, overhauling newborn screening to catch up with the state of science, and working with regulators to further adapt the clinical trial and approval process to meet the needs of our unique rare populations.

Hardest lesson learned: We have been honored to share our mission and personal story on TV shows, news outlets, social media, and in print around the world. In doing so, we sacrificed privacy. One of the lessons learned from this was, “Don’t read the comments.” I say that a bit tongue-in-cheek because most comments and people are extremely kind and generous in support. However, the internet trolls do exist. Growing a thick skin is a must if you are going to take risks and put yourself out there in order to amplify your mission and message.

Best organization decision: This is linked closely to the toughest decision.

Toughest organization decision: One of our most challenging decisions (at the time) was to move from an all-volunteer organization to a professional organization that had employees. We realized over the early years that we were growing rapidly. The community needed more and we wanted to be able to move forward in advancing Sanfilippo research instead of plateauing. In order to do that, we needed to commit the man/woman power to the mission. Time is so critical in degenerative diseases that we needed to act boldly and commit the resources relatively early in the life of our organization if we were going to make the impact we hoped for. This felt controversial at the time and like with many things in life, there will always be naysayers that don’t want to see things shaken up. I would encourage other rare leaders to take that leap and shake things up to advance your mission.

Biggest missed opportunity: There’s a million things we’d like to do. Our ambitions are always going to overreach our resources because we want everything to be good and right for these kids and that’s a tall order and not something that happens overnight and requires a huge amount of people resources and financial resources.

Like best about the job: I like so many things about this job. It is a privilege to be able to help families walk through some very difficult times and provide support and guidance on the science and medical end, as well as be able to lend a compassionate ear in the way only another parent with shared experiences can do. I love learning new details about Sanfilippo and other related disease mechanisms, reading publications, talking with scientists, and putting together emerging elements from the basic science with clinical aspects of the disease and all of the nuances in between. I’m a detective at heart who loves searching for the pieces that ultimately will give us the whole picture. 

Like least about the job: The most challenging part of this work is the pressure I put on myself to live up to the responsibility I feel to the children and families living with Sanfilippo syndrome while also living the disease day in and day out with my daughter.

Pet peeve: Insincerity

First choice for a new career: This was a question we used to ask each other during the throws of overnight call in medical residency. Back in the day, I would have answered woodworker. I’d still like to explore that as a hobby but professionally I am always looking for ways to make a bigger impact. I am now looking at how I can use what I’ve learned to help others by consulting in this and other disease spaces.

Personal taste
Most influential book: I don’t know about “most influential” book, but I did recently read a book that was recommended by my son called Ender’s Game by Orson Scott Card and it was amazing.

Favorite movie: Not exactly a favorite movie, but my 13-year-old son and I love watching Marvel movies together.

Favorite music: Most anything by Bob Dylan, Willie Nelson, or Led Zeppelin

Favorite food: My mom’s homemade vegetable soup

Guilty pleasure:  Dare I say watching The Bachelor/ The Bachelorette.

Favorite way to spend free time: I love going to the beach with my family because that is one of the few places where my daughter seems happy, can run free, and we can all enjoy the same activity.

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