At the Head of the Herd is… Charlene Son Rigby, President and Cofounder, STXBP1 Foundation
Charlene advocates for those affected by… STXBP1 encephalopathy
Charlene is located in… San Francisco, CA
Charlene most frequently checks her… Twitter account @charleneson
How Charlene got here… My daughter, Juno, was diagnosed with STXBP1 encephalopathy in 2016 after a three-year journey to find an explanation for her condition. After my daughter’s diagnosis, we joined forces with five other families to cofound the STXBP1 Foundation.
How Charlene’s previous work experience lends itself to her work in the rare disease community… I joined a health care technology company that develops AI for rare disease diagnostics right after Juno was born. At the time, we didn’t know Juno had any development issues; she started missing milestones around four months. Because I knew about whole exome sequencing through my work, I pushed hard for this type of testing. We were denied multiple times by insurance. In the end, whole exome sequencing gave us her diagnosis. It turned out my daughter did not have a typical clinical presentation for STXBP1, so even though she had many, many tests, these weren’t the right tests to pinpoint her condition. This unexpected connection between my family’s life and my profession has helped me push forward the search for a cure and has also grounded my work.
What STXBP1 Foundation is hoping to accomplish this year… Our foundation’s mission is to build awareness of STXBP1 disorders and to accelerate development of therapies and hopefully a cure. Before the end of 2020, we are hoping to launch our first clinical trial for STXBP1, a small pilot, with our collaborators at Weill Cornell. We also want to expand our support of research to better understand STXBP1 as well as develop the therapy pipeline. Importantly, we want to continue to engage and mobilize our amazing STXBP1 family community
How Charlene sees the STXBP1 Foundation changing in the next five years… We have so much to do – including significantly improving our clinical trial readiness!
One of STXBP1 Foundation’s fundraising successes… Our marquee annual event is the STXBP1 Move to Cure, which started in Marietta, Ohio and has gone global. This year we had more than 250 participants from over 33 locations participate.
Charlene’s Dos and Don’ts for running an effective organization… Find other leaders, other organizations in the rare disease world and beyond whom you can learn from. Don’t recreate the wheel where you don’t have to. Reach out and ask a lot of questions. I have been so surprised and thankful about how generous others have been with their time and sharing their experience.
Where Charlene developed her leadership skills… I have spent my career building teams at tech companies, large and small. Effective teams are critical – we can’t do this alone!
How Charlene remains hopeful… Celebrate every success. Laugh. It was just October and yet Juno has become obsessed with Christmas songs. We now have a Santa song icon on her AAC device that she has learned to navigate to so quickly. I love seeing the delight in her face, that she can communicate what she wants. Seeing our kids make progress, small and large, really motivates me.
How Charlene is taking advantage of NORD member resources… The STXBP1 Foundation joined NORD earlier this year as a Platinum Member, and already we have benefited, including from the resources on the NORD site as well as shared within the Facebook member group. We also received a conference scholarship for the NORD Summit.
If Charlene found a cure for STXBP1 encephalopathy and had to find a new mission… I would like to focus on developing platform technologies for rare diseases. Even though each of our diseases is different, we can leverage the similarities or similar processes to accelerate therapy development for multiple diseases.
The last book Charlene read is… Fish in a Tree. I am in a parent-child book club with my 9-year-old son. I loved how this book captured the challenges of having differences, in this case dyslexia, and celebrated hard work to overcome challenges.
