For seven years, Jennifer Sills wondered whether her daughter’s inability to speak and other developmental delays were really explained by the autism diagnosis doctors gave. Something didn’t seem right as she missed the typical development milestones. Then, in 2016, a doctor ordered a genetic test and discovered the issue: a rare mutation in the gene known as CSNK2AI.
Jules Sills was only the sixth person diagnosed with the Okur-Chung Neurodevelopmental Syndrome, named for the two geneticists who first described the condition in 2016. Information was so scarce that doctors handed Sills a research paper for more information. “As I sat down to read it, I had to look up every other word,” said Sills, who earned a degree in English from UC Berkeley.
“I knew that we had to do better … for families who were being diagnosed to understand their diagnosis,” she said.
She called one of the geneticists, Dr. Wendy Chung of Columbia University, with two pages of questions. They got through only four questions before Dr. Chung advised that “unless somebody started a foundation and funded research, no one would be studying it,” recalled Sills.
Sills did just that and, earlier this month, the Chan Zuckerberg Initiative awarded Sills’ San Francisco-based CSNK2A1 Foundation — named for the gene — as one of 20 organizations receiving $50,000 to “accelerate research and find treatments and cures for rare disease.”
The benefits of such research can go far beyond one identified condition, Sill said. The research around the consequences of this gene mutation, for example, has been studied in relation to cancer, autism, Alzheimer’s and Parkinson’s diseases, and even Covid-19.
“It’s not just an N [sample size] of one,” she said. “It’s amazing how many touch points this gene has.”
Sills said they are now aware of at least 180 cases of OCNDS worldwide, including two other families in the Bay Area. She expects that number will keep climbing into the thousands as genetic testing becomes more readily available and doctors become more knowledgeable.
As with the increasing level of research, Sills’ knowledge has multiplied in the past five years.
She ultimately met with 35 different rare disease organizations to learn about best practices for setting up and running a foundation. They landed on a three-pronged approach made up of a board of directors, a scientific advisory board, and a parent advisory board meant to strengthen the voice of patients and their families and prioritize their perspective on “meaningful change.”
Parents “see OCNDS in action, 24/7,” said Sills. “They are the current experts in OCNDS, and we need their input to accelerate research forward.”
From a parent’s perspective, she explained, meaningful change could mean successful toilet training so families can more easily go on public outings. It might also mean getting their child’s seizures under control “so they’re not spending all night worrying about Sudden Unexpected Death in Epilepsy [SUDEP],” she said.
Speaking as a parent, Sills said meaningful change for her family would be to hear Jules, who currently communicates non-verbally, speak: “If we could hear her voice and what her dreams are, whether she is hurt or sad.”
Sills said the Foundation is also proud about how the structure helps develop “leaders within our community.” Many parents, for example, haven’t had an opportunity to serve on boards before.
The patient-centered model and their collaborative ethos was also a reason why the Chan Zuckerberg Initiative found their application attractive.
The award came as a bit of a surprise, said Sills, as they had applied for the $600,000 grants awarded to other organizations. The high rankings by reviewers earned them the secondary prize, and the foundation’s board will hold an emergency meeting next week to determine exactly how to use the $50,000. “A vast majority of the money we raise and receive goes towards research,” she said.
Patricia Flores, a CZI spokesperson, said the smaller $50,000 operating support grants went to patient-led organizations to “provide them with critical support to advance their work, and indicate our organization’s recognition of their efforts.” The 20 organizations will also be invited to participate in select Rare As One Network programming, she said.
The Chan Zuckerberg Initiative awarded $13 million total to 40 rare disease organizations through their Rare as One (RAO) project, including four other California-based initiatives: A Foundation Building Strength in Palo Alto, Chelsea’s Hope Lafora Children Research Fund in Sacramento, Mission: Cure in Los Angeles, New York City and Chicago, and IPPF in Roseville.