Family Stories

Join us on a journey of navigating anger and resilience in the face of Okur-Chung Neurodevelopmental Syndrome (OCNDS). Explore one family's mantra of 'one foot in front of the other' as they confront the challenges and celebrate the spirit of their extraordinary daughter, Jules. A heartfelt reflection on finding strength amidst adversity.

Join us on International OCNDS Awareness Day as we share a poignant podcast featuring Amber Reynolds, an OCNDS parent, discussing the transformative power of celebrating small victories in parenting. Discover how embracing 'inchstones' shifted Amber's perspective and fostered gratitude amidst challenges. A reminder of the beauty found in life's smallest victories.

Rare Disease Day 2024: A day to unite, educate, and empower families affected by rare diseases. Find strength in community and share your journey with others who understand.

Harper is rare because she brings light and joy to everyone around her with her infectious personality.

Forward Together: CSNK2A1 Foundation's 2023 Year in Review As we reflect on the culmination of our fifth year, the CSNK2A1 Foundation stands at the threshold of an exhilarating new chapter infused with momentum and hope. In the complex landscape of the Okur-Chung Neurodevelopmental Syndrome ("OCNDS"), where families navigate the challenges from diagnosis to care, treatment, and the quest for a cure, our foundation has emerged as a beacon of support and progress. Embarking on the rare disease journey, OCNDS families encounter numerous hurdles, with an average of seven years elapsing before the correct diagnosis is reached. In 2016, when families received an OCNDS diagnosis, there existed no foundation, information, website, or supportive community to guide them through uncharted territory. In response, the CSNK2A1 Foundation was formed in 2018, laying the groundwork for our mission to not only find a cure for OCNDS but also to ensure that those affected have the opportunity to lead happy and full lives. OCNDS manifests with symptoms ranging from speech delay or inability to speak, epilepsy, global developmental delay, and autism spectrum traits to cognitive impairment, hypotonia (low muscle tone), and feeding difficulties, impacting daily life in varying degrees of severity. The theme that has guided us through 2023 is "Forward Together," embodying the spirit of collective action and shared commitment. Our journey cannot be traversed alone; it requires the engagement of each member within our OCNDS community. In the pursuit of brighter lives for those affected by OCNDS, we have challenged our families to identify impactful actions to help move the needle, emphasizing the necessity of 100% participation. In the inaugural year, our fundraising efforts yielded $96,000. From these modest beginnings, the prospect of hiring a full-time Science Program Director once seemed far-fetched; however, the need for a visionary leader to steer our research program and hasten the path to treatment became evident in 2022. In April, Dr. Gabrielle Rushing joined us as our Science Program Director, and in her first year, she has already left an indelible mark, propelling us closer to our goal. This year, we mourned the loss of Jay Silberman, a steadfast supporter of the Foundation. Yet, even in sorrow, we find inspiration in the generosity of Mary Pat Silberman, who chose our foundation as the recipient of donations in Jay's memory. His legacy reminds us that even the smallest acts of kindness can create transformative ripples, shaping a better world for all. In September, we registered our 200th individual with OCNDS in our foundation contact registry! This is a huge milestone, as in 2016, the first paper described only five children with OCNDS. Our contact registry is one of a kind, as it keeps track of those with OCNDS, even if they speak different languages. This isn’t being done anywhere else. The literature doesn’t represent all the families struggling with OCNDS, and we want to give a better picture of how many people are being diagnosed worldwide. This isn’t a perfect system, as we know many other families that haven’t registered with the foundation for various reasons. As we delve into the highlights of 2023, we invite you to celebrate the achievements, acknowledge the challenges, and recognize the collective strength propelling us forward. Only together can we forge a path toward a future where OCNDS is better understood, support is more accessible, and, ultimately, lives are improved. Join us as we unlock hope and progress toward a brighter future for those affected by OCNDS. Forward Together: CSNK2A1 Foundation's 2023 Year in Review  A HUGE thank you to you - our supporters, volunteers, families, and donors – without you this wouldn’t be possible. Thank you for being an integral part of this meaningful journey. 2023 Highlights: We are focused on finding a cure for Okur-Chung Neurodevelopmental Syndrome and ensuring affected individuals have the opportunities and supports necessary for happy and full lives. In 2023, the foundation made substantial progress in its six key areas of focus : Research Awareness Family support Fundraising Advocacy Strategic partnerships RESEARCH. Innovative research is the cornerstone of our mission, as it brings us closer to unlocking the unknowns of OCNDS and finding treatments for our loved ones. By supporting a multifaceted approach to research by concurrently investing in diverse initiatives, we aim to enhance our understanding of the syndrome's underlying mechanisms, ultimately paving the way for effective treatments. Here are some of our research highlights for 2023: Hired our inaugural Science Program Director , Dr. Gabrielle Rushing, to accelerate OCNDS research. Awarded 4 new grants : Unravel Biosciences : Unravel Biosciences will utilize their computational platform to identify molecular differences in OCNDS mouse and human samples and compare them to individuals without OCNDS. Unravel will leverage their drug screening platform to identify potential therapeutics predicted to be treat OCNDS. After identification, collaborators in the Rebholz lab at the Institute of Psychiatry and Neuroscience of Paris will test potential therapies in various OCNDS models. Heike Rebholz, PhD : Dr. Rebholz and her team aim to examine four mouse models of OCNDS, each with mutations in the Csnk2a1 gene that mirror various variants observed in patients. This research will comprehensively analyze the effects of OCNDS, delving from high level observations (such as size, behavior) to a detailed microscopic level. The focus includes assessing alterations in behaviors, neuron functionality, and the proteome. This work will establish preclinical models that can be used to test potential treatments for OCNDS in the future. Matt Huentelman, PhD : Dr. Huentelman and his team will characterize 4 OCNDS patient-derived induced pluripotent stem cell (iPSCs) lines. Timepoints studied will include: iPSCs, neuronal precursor cells (NPC), early/mid/late neuron differentiation stages (6 weeks, 8 weeks, and 12 weeks). Analysis to include phosphoproteomics (looking at what CK2 is targeting in the cells) and RNA sequencing, a technique that allows scientists to examine the entire set of RNA molecules present, offering insights into gene expression patterns and potential dysregulations specific to OCNDS. Clement Chow, PhD: Dr. Chow will use a Drosophila (fly) model of OCNDS to carry out small molecule repurposing screens with libraries of FDA-approved drugs (i.e., Prestwick Chemical Library). Drosophila is an ideal tool to achieve this quick transition from the bench back to the clinic in a much quicker time period than other models. 2 new OCNDS Publications : TGEN released a groundbreaking study showing that OCNDS can be inherited. Although the reported cases of OCNDS in families are currently limited, the growing utilization of next-generation sequencing for the clinical diagnosis of neurodevelopmental disorders holds the potential to identify additional families with OCNDS. Simons Searchlight surveyed 620 caregivers of patients with 39 genetic neurodevelopmental disorders, highlighting increased drooling, dental care difficulties, delayed baby teeth eruption, and abnormal tooth growth as common issues. Significantly, patients in only four groups, including OCNDS, showed a higher likelihood of dental problems compared to sibling controls. We observed continued progress through our dedicated OCNDS research program at TGen. In August, Dr. Rushing and Jennifer Sills visited our team at TGEN to brainstorm ideas for the future of the TGEN OCNDS research program. Welcomed 2 new Scientific Advisory Board members , Drs. Rachel Bailey, and Kimberly Goodspeed. With Dr. Bailey’s extensive background in genetic research and a passion for finding treatments, Dr. Bailey's expertise will be instrumental in our mission to accelerate novel treatment options for individuals with OCNDS. Dr. Goodspeed’s dedication to clinical care, coupled with her expertise in clinical research on neurodevelopmental disorders, makes her a vital asset in advancing the mission to support individuals and families affected by OCNDS. We hosted 3 scientific roundtables to foster collaboration and progress and in Q3, Dr. Rushing updated the format to allow one researcher per session to dive deeper into their work at each roundtable, facilitating collaborative feedback among attendees. Through our contact registry program, we notified families of a research opportunity with Drs. Chung and Okur for a study on less common CSNK2A1 gene deletion variants. Continued our partnership with Simons Searchlight on the OCNDS/ CSNK2A1 natural history study and iPSC lines. We are actively recruiting families to join Simons Searchlight. 113 individuals have registered, 91 individuals have provided lab reports, 71 have completed their medical history profiles, and 23 have generously contributed blood samples. Dr. Rushing recruited our inaugural Scientific Communications Intern , Brad Davidson, a doctoral student in biomedical sciences at Vanderbilt University with a diverse background spanning ecology, neuroscience, and cancer biology. He helped us write a “Research Explained” (science explained in an understandable way for non-scientists) for 18 scientific publications that will soon be featured on our updated website. He also provided us with great ideas to improve how we communicate science with our community. Finalized our partnership with Unravel Biosciences, a biotech company, to determine whether we can repurpose approved FDA drugs as a treatment option for those with OCNDS. Early career investigators presented their OCNDS research across the globe. It is important to invest in young researchers as they bring innovative ideas to research, and it ensures the continuity of expertise in rare diseases such as OCNDS. By promoting their research, we contribute to a much more robust foundation of scientific knowledge about OCNDS and enhance our opportunities to find therapeutic avenues. Researcher Dr. Danielle Caefer, PhD from the Schwartz Laboratory at the University of Connecticut presented her work on OCNDS at the American Society for Mass Spectrometry annual meeting. Alexander Gast, a PhD student in Professor Jose's group at the Institute of Pharmaceutical and Medicinal Chemistry in Münster, received a poster award from Taylor & Francis. His poster entitled "Molecular Characterization of Variants of CK2α found in Okur-Chung Neurodevelopmental Syndrome" presents in vitro investigations into clinically relevant mutations of the protein kinase CK2. The work was done in collaboration with the CSNK2A1 Foundation, Dr. Heike Rebholz, and her PhD student Jose Cruz-Gamero. Young investigators were inspired by OCNDS. This summer, young scientist Zoe Hill participated in TGen’s Helios Scholars program, an incredibly competitive full-time internship program that pairs undergraduate, graduate, and medical school students with TGen faculty and staff to complete a research project. Recently, she delivered an oral presentation and project poster on "Investigating the Role of the Mitochondria in Okur-Chung Neurodevelopmental Syndrome.” She received 3rd place for her oral presentation. An exciting milestone for the Foundation is that OCNDS researchers are now receiving funding from government institutions or private foundations to continue their OCNDS research. This is exciting to see as in 2016, no one was studying OCNDS, and the foundation was the first to invest in OCNDS research. Having others invest in OCNDS is a significant milestone for the foundation and OCNDS families. Furthermore, this is evidence that the foundation investing in researchers will have longer-term benefits than the project itself: preliminary data generated using foundation funds is used to submit grants for much larger monetary awards to continue their OCNDS research. Dr. Rebholz, a leading OCNDS researcher, received a 2023 Winter Pilot Award from SFARI for her project titled “Cell-specific phosphoproteomic profiling in a mouse model of ASD, linked to a dysregulated kinase.” Dr. Rebholz will use an OCNDS mouse model to measure CK2 (the protein affected in OCNDS) activity and determine if we can find an OCNDS-specific marker in the mouse model. Abdelhalim Loukil, PhD, and his dedicated team of researchers at Sanford Research secured a monumental $2 million grant from the National Institute of General Medical Sciences (NIGMS, NIH). In 2022, our first in-person scientific conference, Dr. Loukil presented groundbreaking work on primary cilia and their connection to OCNDS. Primary cilia are like tiny antennae on our cells, playing a crucial role in sensing environmental signals that guide embryonic development. What Dr. Loukil discovered is that CSNK2A1 -related mutations can alter the morphology and trafficking of primary cilia. This discovery is a step forward in understanding the complexities of OCNDS. Applied for 7 highly competitive grants ranging in awards from $5,000 to $1.6 million; some were joint applications with OCNDS researchers and others were geared towards capacity building for the foundation. We hope to hear back about some of these grants in early 2024. In December, Dr. Rushing presented the first research roadmap for OCNDS. Entered into a collaboration with TREND: Community The aim of TREND is to collect information from posts in the OCNDS private community Facebook group about common issues, symptoms, and treatments that would benefit the community. TREND will obtain historical data, securely and anonymously, from the private group by utilizing an application that compiles all posts and comments without name or profile information. This data will be summarized into reports and available via interactive features for our OCNDS Community to achieve the following goals: better engage and equip newly diagnosed OCNDS families, advocate for our existing OCNDS Community through greater clarity and understanding, provide better information for our Research and Education partners through discovering new information about OCNDS (for example, new symptoms or treatments that are working for some families), and publications. AWARENESS. With awareness comes social acceptance and kindness, which can mean all the difference to a family struggling with basic daily activities. With awareness comes more funding for research and advocacy. With awareness comes interest from researchers, biotech, and pharma which can lead to a treatment or a cure. And awareness coupled with action, we are one step closer to understanding and treating OCNDS. Here are some of our awareness highlights for 2023: On Rare Disease Day, we united with 300M+ globally to advocate for access to diagnosis, treatment, care, and social opportunities for individuals with rare diseases. In addition, our President, Jennifer Sills, joined other advocates at the National Institutes of Health (NIH) in Maryland. Rare Disease Day at NIH aims to raise awareness about rare diseases, the people they affect, and NIH collaborations that address scientific challenges and advance research for new treatments. 4 families published blogs reflecting on their thoughts around OCNDS and Rare Disease Day. On April 5th, our 3rd International OCNDS Day, we brought global attention through an awareness video and over 22 illuminated landmarks in foundation colors green and blue , such as Niagara Falls and High-Level Bridge, and local community events. In addition, 2 states, Missouri and Pennsylvania, issued state proclamations declaring April 5th as OCNDS day. Reynolds Family's Awareness Day celebration at Brewability in Englewood, Colorado, united the community, featuring live music and exciting giveaways, and Brewability donated 10% of sales to support CSNK2A1 Foundation's research efforts. In November, we earned a 2023 Top-Rated Award from Great Nonprofits for the 2nd year in a row. Utilizing a range of media and mediums, OCNDS families and foundation staff have effectively elevated awareness for OCNDS. Through blogs, features in local and national news and articles, participation in podcasts, inclusion in a documentary, and radio appearances, we were able to further broaden the reach of our message. These diverse approaches underscore the significance of tapping into various media channels to cater to different audiences, ultimately fostering a comprehensive understanding of OCNDS and garnering support for ongoing research and support initiatives. Here are some of those highlights: 5 Blogs were published by OCNDS parents about all aspects of OCNDS including daily care, newborn screening, transition into adulthood, and receiving a diagnosis. 1 Guest blog on Once Upon a Gene by our president Jennifer Sills entitled “Sometimes There Is No Silver Living” The Sills Family was one of 11 families featured in a documentary by Bo Biglow and Daniel Defabio, Life After Diagnosis , released in April. Jennifer Sills was featured in an article by Michelle Hollow in which she shared her family’s journey with Simons Searchlight. Simons Searchlight allows families to engage in research, interact with scientists and explore potential treatments for rare genetic disorders. Dr. Gabrielle Rushing was featured in an article by Elizabeth Stivison about the role of a Science Director. 5 OCNDS families were featured on the local news, radio, and publications in Wyoming, Alabama, Pennsylvania, Massachusetts, and the United Kingdom. Jennifer Sills was featured on the Handi-Link podcast hosted by Cam Well which focuses on disability issues. Issued 8 press release announcements about exciting Foundation endeavors. Dr. Rushing generated foundation resources to share with clinicians and researchers at conferences: “OCNDS at a glance” and “Research Toolbox.” Received a grant from Google For Nonprofits for $10,000 per month in GoogleAds . Thanks to our partners at Probably Genetic for helping us with the grant. FAMILY SUPPORT THROUGH EMPOWERMENT, EDUCATION & CONNECTION . Providing comprehensive support to families dealing with OCNDS is at the heart of our mission. By offering a network of care that includes resources, peer-to-peer support, and community connections, we aim to empower families to navigate the challenges associated with OCNDS and ensure a nurturing environment for affected individuals to thrive. Here are some of our 2023 family support highlights: Welcomed 57 new OCNDS families into our ever-growing community, hailing from Australia, Brazil, Bulgaria, Canada, China, Denmark, France, Germany, Hong Kong, Italy, Ireland, Israel, New Zealand, the Netherlands, Norway, Spain, the USA, and the UK. We now have 218 OCNDS families registered in our contact registry . Launched our regional ambassador program. Regional ambassadors (RAP) are serving the USA West Coast, USA Midwest, USA East Coast, Canada, England, Ireland, Spain, Ecuador, Germany, Austria, Norway, Sweden, Finland, Denmark, and the Netherlands. Regional ambassadors are responsible for building a supportive OCNDS community within their assigned region. 13 members of the PAB and RAP completed Peer Support Training 101 through the Child Neurology Foundation. Added 2 new members to our Parent Advisory Board , Miranda & Eric Finn 4 regional ambassador meetups : 2 virtually 2 in-person, in the UK, Midwest, and Colorado. We participated in the Simons Searchlight Shine Your Searchlight campaign with over 20 patient advocacy organizations to bring awareness to the importance of participating in research and increase participation in our the OCNDS/CSNK2A1 Simons Searchlight Natural History Study. The Parent Advisory Board (PAB) participated in the 2nd and final Dare to Lead™ workshop led by executive coach Katie Fredricksen, MA, PCC, CPCC. Hosted 10 family Zoom calls . We repeatedly heard poignant feedback regarding how families felt after the meetings, such as "Connected," "Grateful," "Not alone," "Understood," "Excited," "Togetherness," "Hopeful," and "Supported," reaffirming the profound importance of these gatherings in fostering unity and hope within our community. We continued our partnership with Wordly to provide live-caption translation during our family Zoom calls to remove the language barrier to participation since we have OCNDS families from over 33 countries, speaking 21 languages . 56 dedicated volunteers generously contributed their time and expertise. These volunteers span the globe, representing regions such as Australia, Italy, Canada, Texas, Los Angeles, Chicago, New York, San Francisco, United Arab Emirates, United Kingdom, Spain, Netherlands, and Norway. Posted 11 #MilestoneMonday Campaigns celebrating the successes of those living with OCNDS. We have teamed up with translation experts to translate our one-pager created by Dr. Okur into all languages spoken by OCNDS families. Eliminating language barriers is of great importance to the Foundation to make sure that all families affected by OCNDS are armed with the necessary information to manage OCNDS symptoms. It is now available in 21 languages . We created a new resource for families to understand the GeneReview publication easily. There are no clinical care guidelines for OCNDS. The GeneReview is the only set of management guidelines for OCNDS. We encourage families to share this GeneReview chart with their providers and clinicians. In June, we hosted a virtual meet & greet with Dr. Rushing and our global community. FUNDRAISING: Innovative fundraising initiatives are essential for sustaining our research endeavors and support programs. By mobilizing resources, we can accelerate breakthroughs and strengthen our commitment to making a lasting impact on the lives of those affected by OCNDS. Here are some of our fundraising highlights for 2023: We raised over $550,000 in 2023. Here is an overview of our 2023 fundraising efforts. Our annual golf tournament in Tarzana, California, at El Caballero Country Club is our largest fundraiser of the year. This year it crushed foundation fundraising records, raising over $392,000 thanks to our 28 volunteers , 115 golfers and sponsors and our outstanding golf committee Jennifer Sills, Micheal Kaplan, Jr., Joey Behrstock, Mike Greenfeld, J. Michael Grossman, Mike Grossman, Connor Hooper, Erin Massey, and Avisha Patel. Special thanks to our title Sponsor Pinnacle Contracting Corporation for leading by example. We hosted our 3rd annual virtual Run, Walk & Roll event raising over $12,000 with 227 participants across 6 countries . Giving Tuesday is a global day of giving and our largest on-line fundraising campaign. For Giving Tuesday, we released a video featuring OCNDS families and researchers; the campaign raised over $150,000 for research, which included a $50,000 matching donation from loyal donors Joan and Charlie Davis. In Missouri, PAB member Terri Jordan and her family hosted the first-ever OCNDS bowling fundraiser in which they raised over $4,000 for OCNDS research . We love seeing families get creative in their fundraising efforts. 37 people created Facebook fundraisers which over raised $14,000. ADVOCACY. Advocacy plays a pivotal role in championing the rights and needs of individuals with OCNDS. By engaging with policymakers, healthcare professionals, and the broader community, we work to shape policies, raise awareness, and secure necessary resources to improve the quality of life for those affected. Here are some of our advocacy highlights for 2023: In May, at the California State Capitol, Jennifer Sils gave testimony on how telehealth is a game changer for those living with a rare disease. Jennifer Sills attended Rare Disease Week on Capitol Hill, joining forces with other rare disease advocates to advocate for legislation that would benefit the entire rare disease community. She met with 5 offices: House Speaker Nancy Pelosi , Senator Dianne Feinstein , Senator Alex Padilla , Congresswoman Barbara Lee and Assemblyman Kevin Kiley . Signed onto 15 letters of support for issues important to those living with a rare disease submitted to the FDA, House of Representatives, and the Senate. Jillian Kavanagh, founding member of the OCNDS Compassion Initiative and mom to Ellie, testified at the Massachusetts State House to declare April 5th as OCNDS Awareness Day in Massachusetts. In April, Jennifer Sills was invited to the Rare Disease Legislative Advocates (RDLA) Quarterly State Advocacy Webinar as a panelist to share how the CSNK2A1 Foundation began building relationships with state decision-makers. We created our first advocacy one-pager to be shared with policymakers in which we asked members of Congress for their support to improve patient access to rare disease diagnosis, care, and treatment by expanding telehealth flexibilities and creating exceptions to in-state physician licensure requirements when an out-of-state physician provides care to an in-state rare disease patient (or a consult to an in-state doctor) via telehealth. PARTNERSHIPS & CAPACITY BUILDING . Collaboration is key to amplifying our impact. By forging strategic partnerships with like-minded organizations, research institutions, and industry leaders, we can leverage collective expertise, resources, and influence to accelerate progress toward a cure and ensure that the OCNDS community receives comprehensive support on a broader scale. Here are some of our partnership and resource highlights for 2023: Added 2 new board members , Sarah Lazar Ghavim and Jamie Miller to the Board of Directors. Sarah is a seasoned brand marketing leader with over 20 years of experience transforming big ideas into tangible products and experiences that have delighted consumers of all ages. Jamie brings a wealth of experience and knowledge to our organization and is already making a transformative impact. As the founder of Orchard Lake Group, a consulting practice focused on operational efficiency and process improvement, Jamie has honed her leadership skills across diverse industries, including start-ups and Fortune 100 companies. Dr. Rushing prepared a Rare Disease Report about OCNDS for the National Organization for Rare Disorders (NORD) Rare Disease Database. This is important as the Rare Disease Database is among the first places many newly diagnosed rare disease patients and their families turn to. Dr. Rushing attended 9 conferences : including the Ultragenyx Rare Entrepreneur Bootcamp, World Orphan Drug Conference, Vanderbilt University for their annual ASPIRE Career Symposium, Global Genes Rare Drug Development Symposium, NORD Annual Summit, Global Genes Rare Advocacy Summit, CombinedBrain Annual Meeting, SYNGAP1 Annual Meeting, and American Epilepsy Society (AES). Dr. Rushing obtained travel awards totaling $1,500 to attend NORD and Global Genes Rare Advocacy Summit. She also received complimentary registration to the World Orphan Drug Conference and AES meetings. These meetings are important events for networking with researchers, clinicians, and other patient advocacy groups to facilitate new collaborations and learn from others that are successful in the rare disease space. Jennifer Sills was invited to speak on a panel at the Global Genes Rare Advocacy Summit about strategies for long-term growth. By invitation only, Jennifer attended the Chan Zuckerberg Initiative (CZI) Rare as One Science in Society conference in Newport Beach, California over 3 days with 58 other CZI grantees. Jennifer Sills joined the governing board of CombinedBrain, a consortium of neurodevelopmental Patient Advocacy Groups accelerating treatments by pooling data. Dr. Rushing continued to serve as an advocate steward on the Epilepsy Research Benchmarks Committee. We established 7 new partnerships . TREND: as described in the Research section above. ORPHAN DISEASE CENTER (ODC) JUMPSTART PROGRAM . The ODC, a center within the Perelman School of Medicine at the University of Pennsylvania, works closely with patient groups and foundations, pharma and biotech, and the academic community to drive therapeutic development for rare diseases. PROBABLY GENETIC . Probably Genetic runs a no-cost, low-barrier testing program for individuals experiencing seizure and/or developmental delay-related disorders. AGENDA. The mission of AGENDA is to improve outcomes for individuals with all forms of autism by fostering a genetics-first approach to autism and neurodevelopmental disorders research, and by strengthening collaborations among organizations representing genetically defined disorders associated with neurodevelopmental disorders and autism. RARE & READY. Rare & Ready is a genetic coalition advocating for state policies that mitigate Medicaid program hurdles to ensure that patients with rare and genetic conditions get access to the care they need. AUTISM BRAIN NET to increase our knowledge of neurodevelopmental conditions, facilitate brain donations, and advance brain tissue research. EPILEPSIES ACTION NETWORK . Joining fellow epilepsy organizations, uniting our voices for heightened national awareness and rallying for more federal funding and resources to transform research into better patient care. Founding Board member Francesca DeMartino announced her new role as the Chief Investor Relations Officer at Pfizer. Conclusion We stand at the threshold of a year that holds the promise of unprecedented excitement and discovery—2024, a chapter we believe will be our most exciting yet. The seeds we've sown, the dedication we've shown, and the funds we've deployed to advance OCNDS research are on the verge of yielding tangible results. In the coming year, we anticipate a cascade of insights that will deepen our understanding of OCNDS to innovative treatments and move us closer to the ultimate goal of finding a cure. The investments made in research, the unwavering support of our community, and the shared commitment to make a difference all converge to create a potent force for positive change. As we venture into 2024, let us carry the torch of optimism, fueled by the belief that our collective efforts can truly transform lives and shape a brighter future. Together, we are not just facing the unknown; we are actively creating a path toward a world where OCNDS no longer casts its shadow on the lives of our loved ones.

When my child was born I immediately knew something was "off" and for the next 13 years I searched for an answer. At the age of 8 we got 2 diagnoses: Generalized Anxiety Disorder (GAD) and Borderline Cognitive Functioning. With no reasonable explanation in our family or medical history, I kept looking, kept insisting to medical professionals that something else was going on, because there were physical characteristics in addition to mental symptoms. At age 13 we got our answer: a rare genetic condition caused by a mutation to the CSNK2A1 gene resulting in Okur-Chung Neurodevelopmental Syndrome (OCNDS). It explained every symptom, every delay, every mental health struggle. Little did I know it would be just the beginning of finding the appropriate care for my child. You see, at the time, my child was one of less than 200 people in the world with this condition, no medical provider I interacted with knew what to do with the diagnosis I was now presenting to them, let alone any teacher or care provider that would join our team of helpers. So I continued, collecting letters for the alphabet soup that would describe my child so that our team would see familiar diagnoses to help them help us. There were things in the back of my mind that kept pushing in and I just kept asking, even after I received reassurance. "She doesn't have autism, she's too social! she makes eye contact!" they would say, but still that nagging feeling would linger: yes, but she has never made a friend her own age, she is awkward and needs to be accommodated in conversations, what does that mean? I even asked private assessors to add an ADOS (the standard assessment for Autism Spectrum Disorder) and they would refuse, saying there's no way that was part of her picture. Thankfully we finally connected with a developmental pediatrician who heard me and referred us for an autism assessment at the specialized clinic and low and behold, not only did my child have Autism Spectrum Disorder (ASD), they were severely impaired in some areas AND they had a moderate language disorder (MLD) that would explain their difficulty in following conversation and directions in daily life. They actually removed one diagnosis of Mild Intellectual Disability and replaced it with Specific Learning Disorders (SLD) in math and reading. It was a game changer! To be heard! FINALLY! My child was not just "slow" and "on their own timeline" . They had concrete struggles with lists of solutions that had worked in the past, but I had so much trouble convincing teachers to try them because we didn't have the official diagnosis. Now they were willing to try. Why now? Why was I not considered an expert before? Why did I need to wait 16 years for validation? I felt relief and anger all at once. And then another blow, one I dreaded, but did not expect. As we were trialing stimulant medication for ADHD, the things that I thought were "hyper focus" when describing them to the same developmental pediatrician said. "oh, that sounds like a compulsion, have you looked into OCD?" Um, no, that is the dreaded diagnosis. The debilitating diagnosis I have seen almost destroy members of my family. The diagnosis I had been pushing down plopped down in front of me. So another referral came, this time, for the first time, to a psychiatrist. Within 15 minutes we had more letters to add to our alphabet soup: Obsessive Compulsive Disorder (OCD). Thankfully this psychiatrist was also a sleep specialist and I had pushed for an at home sleep study because my child was often tired and talked in their sleep. He took one look at the sleep study (that I had been told was normal) and said, "well, it's not showing signs of apnea, but she's not going into deep sleep, she stays in light sleep all night." YES! I knew that, why? I asked. So he asked my child (who had not uttered a word in the session due to their selective mutism) "when you are going to sleep, do your legs sometimes feel funny?" They nodded emphatically and started writing on their paper: sometimes it feels like I have to readjust my feet a little bit. Lightbulb: the psychiatrist turns to me and says, "restless leg syndrome" (RLS). OCNDS - CSNK2A1 gene mutation GAD ADHD ASD SLD - math and reading MLD OCD RLS Those are the letters of our alphabet soup. When you are rare, or in our case ultra rare, sometimes one diagnosis isn't enough. It has been my job to dig and find all the letters that describe my one extraordinary kid so that they can live the best life they possibly can. No one else can do that for them.

By: Mom of 18 year old Child with OCNDS My Child turned 18 in January. 18 has been the toughest stage for me, as a mom, to navigate. I felt much more capable in the days of juggling multiple doctor appointments, therapy appointments, and navigating the school system than I have felt thinking about long-term preparing for and parenting an adult child with a disability. 18 hit me differently than any other stage. I feel like we’re at a bit of a crossroads now that they have entered adulthood. It’s looking back to see how much we’ve gone through but how far we’ve come. It’s a change in perspective and realizing that now that they are 18 and an adult they should have more ownership over their story and telling it or allowing me to tell it. It’s them having the right to privacy and encouraging them to self-advocate, it’s supporting independence & allowing them to develop their identity as a person having OCNDS. It’s reflection and thinking about things that I wish we had done differently and also appreciating all the things that I’m really glad we did & the people who helped so much along the way. This journey with disability is like an ocean. Some days you’re in it, tackling the waves as they come. At moments you’re riding high, surfing confidently on the biggest wave you could ever imagine, only to come crashing down on the shore. There are days where you’re in a calm ocean floating along just enjoying the rhythmic pattern - gentle and expected and stable. You get used to that, get relaxed, and then a gigantic wave comes & threatens to drag you under. In those moments, sometimes you’re going to rise to the top and ride the wave to the shore. In other moments, you’re going to get rolled & bounced around until you land on shore with some scrapes and scars. But, you keep going back. Sometimes you’re relaxed when you enter that water, other times you’re exhausted but you know that you love the ocean so you just keep going back, even when you are not always sure what the conditions are going to be. I think the biggest advice I could give to parents who are just starting out is to be honest about where you are in your journey & to reach out either as support or for support. Disability is not a dirty word and it’s not something to be afraid of. Is it overwhelming, scary, & heartbreaking sometimes? Absolutely! Is it celebration & appreciation of small moments with more joy than you can imagine? Also, absolutely true. Sometimes it’s so hard to come to peace with and realize that your child might not follow a “traditional“ route because of disability. At other times it’s finding positives in that. I promise you, parents of younger kids, that there are great moments ahead! In this past year, since turning 18, my child had the opportunity to do things that I never thought they would - they served as manager for a varsity sport, they participated in a school-wide unified sport and earned a varsity letter, they decided they wanted to try to attend their junior prom and spent the entire night on a dance floor with a group of peers who saw they wanted to join in and kept them dancing! Did they do all of these things in a “traditional” way? No. Does that make any of these huge milestones any less important? Also, no. I never ever thought I’d see them do so many of the things they have done over the years. They worked hard and it took time. There are things that I know they won’t likely do which can still be heartbreaking, but my child will still have a good life. Our journey has been a little bit different than some because our family did not receive our child’s diagnosis until they were age 15. Sometimes I think about what it would’ve been like to have an answer when my child was two or three years old. I don’t think one journey is better or worse than the other, I just think that they’re different. We spent the majority of their childhood addressing issues as they came up, one by one. We had no clue what to look for. It was overwhelming because we never totally knew what was going to come next. We had faith in the fact that we were doing the things that we needed to do regardless of the fact that we couldn’t connect the dots between all of the different health and developmental issues that they had with one answer. Honestly, by the time we got our diagnosis, it was mostly a feeling of disbelief. I didn’t think I would ever see a diagnosis for them and in many ways it changed nothing that we were doing. We did have a few health things checked out that were recommended to us. The best part about getting a diagnosis was finding this amazing OCNDS community. It has helped in so many ways and I feel so lucky that there is a foundation & an organization that is active and knowledgeable and trying to make a difference. I want to lend support to those of you who have younger children, or those just starting out on this journey. It is hard, it is different. But, there is so much that is positive in the journey, and so much that is possible for our kids to achieve!

Written by: Claire Whitehill