Empowering Families to Take Action: Finding Support for People With Rare Genetic Neurodevelopmental Conditions

Simons Searchlight offers families an opportunity to engage in research, interact with scientists, and explore potential treatments for rare genetic disorders. 

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In 2016, Jennifer Sills’ daughter, Jules, was diagnosed with Okur-Chung neurodevelopmental syndrome (OCNDS), also called CSNK2A1-related syndrome. OCNDS affects fewer than 200 people globally. “Scared didn’t sum up how I felt,” she says. “There were no words.”

Sills didn’t hesitate to take action. She reached out to Wendy Chung, M.D. Ph.D., a highly respected pediatric geneticist and principal investigator at Simons Searchlight.

Simons Searchlight is a global research program that studies over 180 rare genetic neurodevelopmental disorders, including OCNDS. The primary research objectives are to advance scientific understanding and provide invaluable data to researchers at no cost.

Chung, along with Volkan Okur, M.D., played a crucial role in identifying OCNDS. Together, they advised Sills to establish a foundation to assist families with navigating this diagnosis.

As a result, Sills established the patient advocacy organization CSNK2A1 Foundation, and she collaborates closely with Simons Searchlight. Sills emphasizes the importance of the Simons Searchlight community in providing comfort and support to families with rare diseases and promoting collaboration between families and researchers. The connections facilitated by Simons Searchlight are especially vital in the context of rare genetic conditions.

Some participants have what Sills calls “ultra-rare illnesses,” where the number of people with the condition is extremely small. Those families are motivated to participate in research and connect with patient advocacy communities to find a sense of hope. “By joining an international research program like Simons Searchlight,” Sills says, “families learn they’re not in the same exact boat but are in the same storm.”

Sharing Insight and Being Represented in Research

Over 100 families affected by OCNDS have shared their medical history information with Simons Searchlight. According to Sills, it’s easy to do and there’s even a video about the registration process. Research participation is offered in different languages including English, French, Spanish, and Dutch. “The more people enrolled gives us a broader picture of the disease,” Sills explains.

The information that Simons Searchlight collects is valuable for both families and researchers. Families receive quarterly reports with the latest data about their genetic condition, and researchers have access to data for animal models, clinical trials, and other studies. This collective information contributes to a greater pool of scientific knowledge about each condition. Sills adds, “By completing online surveys, the de-identified data are shared with approved researchers studying the disease.”

Laura Palmer is president and co-founder of the SHINE Syndrome Foundation, a patient advocacy group for people with DLG4–related synaptopathy. She affirms many of Sills’ points, emphasizing the important role Simons Searchlight has played for families with DLG4 diagnoses. “We currently know of 124 people with SHINE syndrome in the whole world,” she says. Palmer encourages these families to join the study and to be represented in the research.

Palmer shares all new Simons Searchlight data reports with her DLG4 families and posts the information on SHINE’s Facebook page. “As parents, we want information for our kids. I, and many of the parents, don’t have science backgrounds. Working closely with Simon Searchlight gives us helpful insight about a disease we didn’t understand.” Having easy-to-understand reports from Simons Searchlight helps provide perspective and diminishes the sense of isolation that families often feel given how rare their diagnoses are.

Participating in research and sharing information is an important part of rare disease progress and self-advocacy. Simons Searchlight makes this easy through a user-friendly participant dashboard, where families can sign up and track their progress at their convenience. “I liked that I could do it in stages,” Sills says. “You can start, stop, and come back to it,” which is a key part of our focus on accessibility for families with children that may have many needs.

Knowledge Empowers: Illuminating the Path of Discovery

Kaitlyn Singer, a Simons Searchlight project manager, is grateful to the community of participating families and their long-term commitment to research. “When a family gets a diagnosis, they contact us because they are looking for answers. There may be little information about that rare disease, they’re overwhelmed and they want to find support,” Singer explains. Singer helps them get started and guides them through each research participation step from uploading their genetic lab report to completing surveys. “The involvement of more individuals in our research has a greater impact in the long run; it gives us a better picture so we can learn and continue to help others.”

Singer also highlights the importance of donating blood for research and invites participants who give consent to contribute a blood sample, which can be performed locally at Quest Labs in the United States or at in-person family conferences. These samples can be used by qualified researchers to broaden our understanding of a condition and assist in the creation of future therapies and treatments.

Simons Searchlight genetic counselors are readily available to support participants with any questions related to their genetic diagnosis. Genetic counselor Rebecca Smith is dedicated to empowering families to understand the complexities of their genetic results. “The rate of how much we’re learning and how quickly we provide answers to our families compared to just two years ago arms our families and researchers with much needed knowledge,” she says.

A Sense of Belonging

Simons Searchlight is deeply committed to facilitating connections between participants, researchers, and advocacy communities dedicated to better understanding and supporting families with rare neurodevelopmental genetic diagnoses.

“Joining and coming together,” Sills emphasizes, “shows us we’re not alone. Whether it’s an online meeting with people all over the world or a local group of families in the same genetic community, we develop deep friendships and learn how to help our family.”

For more information, visit Simons Searchlight.

? Photos provided by Laura Palmer, Jennifer Sills, and Erica Jones.