Rare Leader: Jennifer Sills, President and Founder, CSNK2A1 Foundation
October 22, 2020
Name: Jennifer Sills
Title: Founder and president
Organization: CSNK2A1 Foundation
Social Media Links:
Disease focus: Okur-Chung Neurodevelopmental Syndrome (OCNDS) is caused by a mutation in the CSNK2A1 gene located on Chromosome 20. The most common symptoms for those living with OCNDS can include speech delay or inability to speak, epilepsy, global developmental delay, cognitive impairment, autism spectrum disorder traits, hypotonia, and difficulty feeding which may require a feeding tube. OCNDS effects every patient differently. The symptoms range from mild to severe.
Headquarters: San Francisco
How did you become involved in rare disease: Like many parents who are also founders, my daughter Juliet was born with OCNDS. However, at the time of her birth in 2010, OCNDS had not yet been discovered or identified. We only knew that she wasn’t reaching her milestones and wasn’t making eye contact. In 2016, in our continued search answers, we went to UCSF for whole exome sequencing (WES). We were told that only 10 percent of the time WES reveals a genetic diagnosis. Six weeks went by and we almost completely forgot about the test. But then we received a call from our neurologist that changed our lives forever – she told us that Juliet was the sixth individual in the world to be diagnosed with OCNDS.
We received the diagnosis in August 2016. Just 4 months before our diagnosis, the first study identifying this brand new syndrome was published by Dr. Wendy Chung and Dr. Volkan Okur. The initial study identified 5 children with OCNDS. I asked our neurologist, “What do we do now?” She said, “Well, call Dr. Wendy Chung and ask her what your marching orders are.” I looked up OCNDS on the Internet before I called Dr. Chung and I found nothing. There was no support group, no foundation, no website. There was no information except for this single publication. I was an English major and I thought how hard can it be to read a publication. This was my first lesson in rare disease 101: just because you have a diagnosis, doesn’t mean you have all the answers. As I sat down to read the only information available, I saw there were words in a line with a period at the end to make sentences but I had no idea what they were saying. I had to look up every other word. At that moment, I knew we had to do better for my Juliet and our community. We had to create something for individuals to easily understand their diagnosis and empower them to be their own advocates. The more information we have, the more we can create a life for Juliet and other children like her that is vibrant, vital and worthwhile.
When I called Dr. Chung, I had two pages of questions and we got through four questions. At that time, she told me the cold, hard fact, which is patients and their families shouldered the burden of building an army to drive rare disease research. At that time, no one was studying OCNDS. I asked her what I needed to do, what our community needed to do to accelerate OCNDS research? She said, “You need to build an army. No one will study OCNDS unless you start a foundation and fund research yourselves.” Her instructions were clear – start a foundation, hold an in-person family conference, start a patient registry, make reagents (including mice and IPSC cells), fund basic research and find at least 60 other families. We started the foundation about 18 months later because we wanted to be thoughtful about our approach and we wanted to hit the ground running. In the organization’s inaugural year, we started to build our army: we held an in-person family meeting, made a mouse, funded the first OCNDS biochemistry study and found many more patients.
Previous career: Attorney
Education: BA English Language and Literature from University of California, Berkeley; J.D. Pepperdine Law
Organization’s mandate: I feel like Dr. Chung helps sets the mandate for a lot of young, rare disease organizations. This mandate is care until cure. Until we find a treatment or a cure, we are trying to develop a standard of care for our patients. Right now, the standard of care for someone with OCNDS varies wildly from country to country and person to person. This can be confusing and frustrating for our families who are always fighting for services and treatments. Our families need an informed approach to managing OCNDS symptoms.
Organization’s strategy: Our strategy is to find a treatment or a cure for OCNDS, but if we don’t make the breakthrough discovery and instead another organization comes up with a strategy for treating or curing a neurodevelopmental syndrome, we want to be in a position to take advantage of any new treatments or innovation right away. We are making sure that we have all the basic science and reagents in place so we aren’t five years behind testing new therapeutic discoveries on our syndrome.
Funding strategy: Fundraise like hell—we’re grassroots and gritty. Our fundraising strategy is relentless. We have an elevator pitch ready to use at any moment.
What’s changing at your organization in the next year: We’re excited for 2021. We recently formed a parent advisory board that consists of 12 parents. We’re excited for the projects that they’re going to be working on. The first project is a needs assessment survey for our entire community which will drive foundation research and projects. We are also thrilled that the results of our first foundation-funded basic biochemisty research study will be published. This is exciting because to date very little is known about OCNDS and the results of this study will help our community better understand what this diagnosis means for their loved one and will serve to inform our future research.
Management philosophy: Our management philosophy is simple: honesty, integrity, and flexibility. We also believe that you can’t be successful if you run an organization in a vacuum. We surround ourselves with other rare disease leaders to collaborate and to learn from their triumphs and failures.
Guiding principles for running an effective organization: It’s the same as our management philosophy.
Best way to keep your organization relevant: Attending the major conferences like Global Genes and NORD. Being a part of the Foundation Alliance that Global Genes. Keeping in contact with other organizations to hear about ways they are tackling their rare disease and organizational issues. Google alerts is another way that I’ve found that we’ve kept our organization relevant. By setting up alerts, our organization is up to date on the amazing innovation that’s been coming through the pipeline.
Why people like working with you: I’m very direct. I will tell you my truths. I don’t know how to use fluff. I will always give credit where credit is due. I celebrate other’s successes. If you ask me for help, I will do anything in my power to help you. People know that I will always have their backs.
Mentor: In the rare disease space, Vanessa Farley Vogel (Dup15q Alliance). I always call her for advice. She has a unique perspective. She is my mentor.
On the Job
What inspires you: On a day-to-day basis, my daughter. Watching her meet these small milestones—I recently heard somebody call them inch stones—which I thought was a perfect description. She’s 11. In the last year she started to call me Mama and also started to put on her own seatbelt. These are milestones you take for granted when you have a typical child (I know because I also have a son without a rare disease and I can’t remember at what age he called me mama or put on a seatbelt). Seeing how hard she works every day to meet these small but incredibly meaningful milestones is what inspires me.
What makes you hopeful: It sounds so cliche, but I believe the time is now. This is a unique, unprecedented time in science. Science is catching up. We are living in a time where genetic conditions thought to be incurable and untreatable are now being treated. In addition, other rare disease organizations make me hopeful. I am constantly in awe of these amazing, strong, rare disease leaders and organizations that are accelerating rare disease research. With boundless love and fierce determination, they are singlehandedly changing the world. I feel so blessed to be part of this community.
Best organization decision: To start the organization in the first place. The uncertainty you feel when you have a child with a rare disease feels like a freefall. As you are freefalling the viscosity of time increases and every second feels like eternity. You can’t see the bottom. You can only see where you have been. You just continue to fall feeling scared, alone and isolated. And you wonder how do I stop this free falling? When and where will I land? In 2016, when we received Juliet’s diagnosis, we felt like we had no place to land. There was no foundation, no website, no information and no community. We recognized that others were also free falling in this uncharted OCNDS territory. We decided to launch the foundation which is a base that stops the freefalling and from which we can stand strong, feel supported and informed. For us, our greatest accomplishment so far is starting this organization and giving those with OCNDS and their families a place to land.
Hardest lesson learned: It doesn’t matter how much money you raise or how hard you work or how many sleepless nights you’ve had, research takes a long time, and it is painfully slow.
Toughest organization decision: We have limited resources and we’ve had to put some research that we’d like to do on the back burner because we don’t have enough funds. The toughest decisions are figuring out what research we can afford to fund and prioritizing them.
Biggest missed opportunity: I feel like one of the biggest missed opportunities (but we hope to have the opportunity in the future) is the Chan-Zuckerberg Rare As One grant. Hopefully with time and more knowledge, we’ll be able to come up with something more novel that will put us in the running for a CZI grant.
Like best about the job: I always wanted three children but we stopped at two. The biggest blessing that I’ve received from this (more of a calling than a job) is that I have many third children all over the world. I’ve traveled across the globe meeting families, researchers and clinicians. I show up on their doorstep and they welcome me with open arms and open hearts. I’m so grateful for these relationships and these encounters. Their generosity to share their journey with me means so much to me.
Like least about the job: There are not enough hours in the day to accomplish all I want to do for my daughter and our community.
Pet peeve: Living in a binary world. Life is messy. I’m not a zero or a one. I’m an ever-evolving human who learns from my mistakes and hopefully gets better all the time.
First choice for a new career: Making trailers for movies.
Most influential book: Chasing My Cure: A Doctor’s Race to Turn Hope into Action; A Memoir by David Fajgenbaum; The Glass Castle: A Memoir by Jeannette Walls (I’ve never loved a book from a dedication page forward. On the dedication page, it says “To John for convincing me that everyone who is interesting has a past”), and this ties into my third book, Just Mercy: A Story of Justice and Redemption by Bryan Stevenson, because I think it’s important to know we are not defined by one moment in our lives.
Favorite movie: Bull Durham and Tin Cup
Favorite music: I love all music, but my favorite karaoke songs to sing are Tiny Dancer and Faithfully.
Favorite food: Japanese
Guilty pleasure: Taking a walk while listening to a podcast or watching a documentary
Favorite way to spend free time: Outdoor adventures with my family while making memories.
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