Name: Charlene Son Rigby
Title: President and Founding Board Member
Organization: STXBP1 Foundation
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Disease focus: STXBP1 is located on chromosome 9q34.1 and was discovered in 2008 in studies of some patients with Ohtahara Syndrome, a severe early onset epilepsy. Since the initial discovery, our understanding of STXBP1 disorder has expanded, revealing a range of patient symptoms. Children may, with varying severities, display epilepsy, global delay, intellectual disability (mild to profound), movement disorders, and autism. STXBP1 changes impair transmission between nerve cells. Changes are typically new in families and a single copy of a damaged gene is enough to cause the disorder. STXBP1 is one of the seven most common genes for epileptic encephalopathies and related neurodevelopmental disorders.
How did you become involved in rare disease: My six-year-old daughter Juno was diagnosed three years ago with STXBP1 disorder. She started missing milestones at about three months. However, she did not have a typical clinical presentation for STXBP1, so that started us on a diagnostic odyssey that ended when we were able to get whole exome testing for her when she was 3 years old.
Previous career: Currently chief business officer for a rare disease diagnostics company providing AI-driven clinical insights for genomics
Education: B.A. in human biology from Stanford University and an MBA from the UC Berkeley Haas School of Business
Organization’s mission: Our mission is to create awareness of STXBP1 and associated disorders, and to support research to accelerate the development of a cure. We are also working to build a community of families who are better informed to help them manage and cope with the challenges of this disease.
Organization’s strategy: Our strategy follows our mission. This is a very rare disease. There are 300 to 400 patients who have been diagnosed worldwide. When we started in 2017, there were only a handful of researchers who were interested in STXBP1. We are forming a research network by deepening the relationships and commitments that our existing researchers have, as well as building interest with new researchers. We held our first STXBP1 Investigator and Family meeting last June. During the researcher day, we developed a common viewpoint on the current state of research and understanding of STXBP1, and from this developed a shared set of research priorities going forward. We also connect researchers with potential collaborators, make them aware of our patient registry, and share patient insights. The second thing we are doing is building and supporting our growing family community. I mentioned the estimated 300 to 400 diagnosed patient number that has been reported in the literature. This was from a 2016 paper. Fast forward to today, and I think that’s a significant underrepresentation of the prevalence of this disorder. We see on the STXBP1 Facebook groups there are newly diagnosed families joining pretty much every week. With the STXBP1 family community we are focused on building awareness, connecting families, and activating our community.
Funding strategy: Our fundraising comes through events, as well as individual fundraising. We have a marquee event, our STXBP1 5K in Marietta, Ohio. That’s been a wonderful event for us and we’re growing that into a virtual 5K around the world. This year we’ve had folks in Germany, Australia, and Ireland. It’s been a great way for us to build awareness, as well as generate funding for research. We’re also focused on growing individual donations. We’ve also done a bit in terms of corporate donations, mainly to support our scientific conferences.
What’s changing at your organization in the next year: We just announced our first research funding on Thanksgiving. It was a $75,000 award to Ben Prosser at the Perelman School of Medicine at the University of Pennsylvania. He’s been working on a very promising therapeutic approach, a microRNA-based strategy. Research funding is a big goal for us, so we can accelerate development of a cure for our kids. We’re planning to more than double our fundraising for 2020.
Management philosophy: I always want to think big. Our mission is big. We are looking for a cure for our kids. My philosophy is we should not to be afraid to think big and we shouldn’t be afraid of trying things and failing.
Guiding principles for running an effective organization: Open communication is very important to me in terms of people knowing what’s going on and working with as much information as possible. Another piece is setting clear goals and having some way of measuring it. That’s more challenging in a volunteer organization, but I also think that it becomes even more important because people are not doing this 40 hours a week, at least during the day. They may be doing it at night or on the weekend. We’re definitely not all in the same office together.
Best way to keep your organization relevant: Continue to build strong research relationships. This way we are helping to create this hub that will be so critical for us to accelerate therapies and a cure. On the family community side, identifying and tapping key people who want to volunteer. There are many people in the community who are motivated to do something for our kids, and they need a way to plug in and for us to leverage that energy.
Why do people like working with you: I’m very organized and strategic, but the most important thing is I am very optimistic. I get people excited and motivated because of my optimism.
Mentor: I’ve been lucky in that I have had several mentors in my personal life and my career. My biggest mentor was my mother. My mother was a career woman. She got her Ph.D. in the ‘60s and was a wonderful model to me as to what a successful woman could be in the career world and how she could do that as well as raise a family. She had a lot of different passions from her career in chemistry to her music. She’s been my greatest mentor across my personal and work life.
On the Job
What inspires you: My daughter. She is such a hard worker. She has a much harder time developing basic skills than a typical developing kid, like my son. Where most of us learn to walk naturally, she had to have years of physical therapy to be able to do that. During some of her physical therapy sessions she would start crying because what she was being made to do was very difficult for her given her physical challenges and her lack of muscle strength. But she always pushed forward, and she tried. Now she’s walking.
What makes you hopeful: We’ve made a tremendous amount of progress in therapeutic development in the last two years since we started the foundation. We’re still in early stages, but it’s an exciting time. We have a repurposed drug candidate that is going into a clinical trial pilot. Then there’s the work at the Prosser lab that I mentioned where they have started to identify microRNA therapeutic candidates. Even though the whole drug development process is long, I see that there are some glimmers of hope that are exciting for us and the community.
Best organization decision: We are a volunteer, parent-led organization. To date, we’ve only had a board of directors. In 2020, we are expanding to form committees on our board. This is going to provide more opportunities for volunteers and make our workload more manageable across parents as we grow our efforts.
Hardest lesson learned: Things take longer than you think.
Toughest organization decision: So far, we’ve been united in terms of what we want to do from a mission perspective and what our priorities are.
Biggest missed opportunity: Fully taking advantage of our parent community. We need to better engage parents who want to become involved. We haven’t done enough to give the parent community specific, tangible volunteer opportunities. That something we want to do going forward.
Like best about the job: Having the opportunity to change the outcome and trajectory for children like my daughter and their families.
Like least about the job: Not enough time.
Pet peeve: People who can’t, or won’t collaborate
First choice for a new career: Any career where I have more sleep
Most influential book: Lean In: Women, Work, and the Will to Lead by Sheryl Sandberg
Favorite movie: Moana
Favorite music: “We are the Champions” by Queen
Favorite food: Nachos
Guilty pleasure: Ordering room service and sitting in bed with my laptop when I’m travelling for business.
Favorite way to spend free time: With my husband and kids. They make me laugh, which is wonderful.