2021 Year in Review

Reflecting on 2021 - The So-Called Year of Recovery

2021 has been called the year of recovery and renewal as the world tried to move past the pandemic. We began the year thinking we had a handle on COVID, but experienced continued lockdowns, the challenge of mask-wearing, social distancing, and canceled plans. 83% of OCNDS families surveyed reported their children were negatively impacted by COVID closures. OCNDS families lacked essential and medically necessary services for their children, which was particularly detrimental as structure and consistency are lifelines for those living with OCNDS. Many children with OCNDS also have autism, so the lack of social interaction was particularly challenging. Many families reported a change in demeanor or mental health decline, reporting that their children were increasingly sad, frustrated, angry, and had increased anxiety. Many of those with OCNDS couldn’t access distance learning due to their disability and, therefore, went without school. There was no respite care for families. Individuals with OCNDS were also unable to get necessary surgeries. Families reported regression, weight gain, and sleep disturbances.

We begin every year with a theme. 2021 was No Family Walks Alone. Our families were more alone than ever during this pandemic. Our quarterly family meetings hosted by our Parent Advisory Board (“PAB”) became a lifeline to many OCNDS families struggling during the pandemic. At the end of each call, we ask every participant to say one word that describes how they are feeling at the end of the call. We frequently heard: "Connected," "Grateful," "Not alone," "Understood," "Excited," "Togetherness," "Hopeful," and "Supported." 

Despite the continued COVID chaos of 2021, our families and researchers remain resilient and committed to our mission: finding a cure for Okur-Chung Neurodevelopmental Syndrome and ensuring affected individuals have the opportunities and supports necessary for happy and full lives.

New Goals for 2021-2023

Our mission will be achieved by our OCNDS community working together as one. If the last couple of years taught us anything, it is that we are better and stronger when we work together. We have a 3-board structure that supports our ability to accelerate the path to treatment: It consists of the Board of Directors, Scientific Advisory Board, and our PAB. We have extensive and lofty objectives for the next 3 years, which will only be achieved by the entire OCNDS community working together. Our objectives & goals for 2021-2023 are:

• Engage, educate and empower the global OCNDS patient community and strengthen the patient voice; 
• Remove barriers to participation such as language, scientific knowledge, and socioeconomic;
• Provide opportunities for families, clinicians, and researchers to work together to set research priorities;
• Augment all of our Boards - Board of Directors, Scientific Advisory Board, and PAB - with diverse global experts; 
• Continue to develop reagents (e.g., IPSC cells, animal models) and make them widely available to researchers, which will make it easier for researchers to develop treatments for OCNDS and gain a better understanding of OCNDS;
• Launch high-impact studies with researchers around the globe to investigate the cause, key cell types, and new treatment targets for OCNDS;
• Maintain and grow our patient registry program;
• Facilitate and plan in-person and virtual family meetings to foster hope, community, collaboration, and a further understanding of OCNDS;
• Continue to support the CSNK2A1/OCNDS international natural history study at Simons Searchlight and grow our biobank;
• Collaborate, brainstorm, and work with other rare diseases groups;
• Raise the profile of OCNDS through media attention, public awareness campaigns, and advocacy;
• Orchestrate expansion of fundraising efforts.

Research Update

There is HOPE! Science is progressing at a rapid rate. Rare diseases once thought to be incurable or untreatable are now being treated. We believe OCNDS will be one of these! In 2021, as COVID-19 continued to affect almost every aspect of life, our researchers continued the search for answers and a cure.

The road to treatment is complex and expensive. Fundraising is vital to our success and our ability to develop treatments. Thank you to our supporters, donors, and OCNDS families for making this dream a POSSIBILITY! 

In 2021, we continued to fund our current grantees: Dr. Heike Rebholz, a neuroscientist and biochemist at the Institut de Psychiatrie et Neuroscience de Paris conducting a multi-year project studying the biochemistry of OCNDS, and Dr. Isabel Dominguez, a cell and development biologist at Boston University. We also engaged Taconic to make two more mouse models to add to our research toolbox, which will be used in current research projects. 

The Chan Zuckerberg Initiative (CZI) announced $13 million in funding for 40 patient-led, rare disease advocacy organizations that are working alongside researchers and clinicians to accelerate research in their disease areas. "20 patient-driven rare disease organizations will join the initial 30 grantee organizations awarded in February 2020 as part of the Rare As One Network. Additionally, 20 separate rare disease groups will receive general operating support or core program support.” We congratulate the 20 organizations that were chosen for Rare as One Cohort 2. We are honored and grateful to receive a $50,000 grant from the CZI to support our quest to accelerate OCNDS research and find treatments and cures for OCNDS! 

In Q1, we launched our CSNK2A1 Foundation Scientific Quarterly Roundtable. Quarterly, we bring researchers, clinicians, and innovators together to exchange ideas and accelerate the path toward treatment for OCNDS. These roundtables play a vital role in accelerating our OCNDS research agenda. Our researchers are successfully sharing data, collaborating, and publishing together.

91% of the patients reported with OCNDS have a missense mutation. We are discovering that other types of variants may also cause OCNDS. Dr. Okur and Dr. Chung are studying gene deletion (partial or whole gene) variants in the CSNK2A1 gene and its relation to OCNDS. 

In 2021, we continued our collaboration with Simons Searchlight which is conducting a CSNK2A1/OCNDS long-term natural history study. Our community can gain important insight into OCNDS by participating in additional Simons Searchlight Surveys. The more surveys collected over time, the better picture our community, researchers, and doctors will have of what it means to have OCNDS. Sleep is a huge issue for most families in our community. In 2021, those OCNDS families signed up for Simons Searchlight had the opportunity to participate in a sleep survey, which helped us gain more insight into OCNDS and sleep. 

Our President, Jennifer Sills, continued her 2-year on the Simons Searchlight Inaugural Community Advisory Committee (“CAC”). The CAC is to advise and guide research and community activities on behalf of all Simons Searchlight participants and gene groups. The CAC gives our Foundation the chance to provide our perspective on Simons Searchlight’s research priorities, offer feedback on research surveys and website functionality, and give input on articles, webinars, and other communications of interest to the community. 

In continued collaboration with Simons Searchlight, in 2021, we enhanced our researcher toolbox by adding 9 patient-derived iPSC cells which are available to qualified researchers, institutions and companies. iPSC cells are ​​Induced Pluripotent stem cells. iPSC cells are an important research tool for modeling and investigating rare diseases and drug screening. iPSC cells can be made from a patient blood sample or skin cells. Researchers take a person's skin or blood and reprogram them into iPCS cells, and then use those to grow liver cells, neurons, or whatever cell is needed to study a disease. Since we wouldn’t harvest neurons or brain cells from our children, we can use these iPSC cells and turn them into neurons for researchers to study. Researchers will be able to tell how a mutation on the CSNK2A1 gene affects neurons and other cells in the body. 

At our conference in August, Dr. Chung issued a challenge to our OCNDS community to become part of the 100 game-changing OCNDS families. If 100 OCNDS families sign up for the Simons Searchlight long-term natural history study, she will have the information needed to write clinical practice guidelines. When someone is diagnosed with OCNDS, there are no clinical care guidelines for physicians. Clinical practice guidelines are recommendations on how to diagnose and treat a medical condition such as OCNDS. Clinical care guidelines are meant to help ensure that patients receive appropriate treatment and care. Currently, care varies wildly from patient to patient without these guidelines. We are changing this. We are actively  recruiting families to join Simons Searchlight. In 2021, we had 37 new families join Simons Searchlight. 

Unfortunately, COVID also kept our scientists from meeting in person again this year. On May 27th, together with SFARI and Simons Searchlight, we hosted our CSNK2A1 Annual Scientific Conference. There were 28 researchers, clinicians, and team members from across the globe sharing and collaborating to bring actionable results to our OCNDS community. The agenda included a short introduction to SFARI resources and funding opportunities, a short introduction of each participant’s research interests and how CSNK2A1 fits in with their interests, and an open discussion on the science. 

We love seeing young scientists taking an interest in OCNDS & CSNK2A1 research. On August 3rd, Kamawela Leka was awarded $250 for being one of the top 10 posters out of the 45 posters for their work on CSNK2A1 that were presented during the Annual TGen HELIOS Scholar Symposium. Kami is currently working on their undergraduate thesis work under the guidance of Dr. Rangasamy and Dr. Narayanan at TGEN. The CSNK2A1/OCNDS research project at TGEN is focused on understanding the molecular mechanisms of OCNDS using cell and zebrafish models. 

Awareness 

Most people have never heard of OCNDS. We are changing this - one event, one social media post, and one t-shirt at a time. With awareness comes social acceptance and kindness, which can mean all the difference for a family struggling with basic daily activities. We host several awareness events throughout the year to shine a light on OCNDS. 

Rare Disease Day takes place on the last day of February each year. This year it fell on Sunday, February 28, 2021. The main objective of the campaign is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. On February 28th, we united with over 300 million people worldwide living with a rare disease to work towards more equitable access to diagnosis, treatment, care, and social opportunity. We loved seeing our OCNDS families bringing awareness to their communities for Rare Disease Day. Our PAB member, Amber Reynolds, created a new product line for her Rare Disease Day fundraiser, “Love Needs No Words!” She raised over $1600 from her t-shirt sales. 

The Foundation hosted a Rare Disease Day 2021 Event with The Color-Coded Chef. Terri Jordan, the founder of The Color-Coded Chef, guided us through her amazing adapted Chocolate Chip Cookie recipe. Terri developed The Color-Coded Chef Kit, which promotes life skills for all ages & abilities through the power of cooking. This unique system emphasizes visual communication. The carefully designed interface removes many of the traditional barriers to cooking. From the UK to Hawaii, OCNDS families baked together! 

April 5th is International OCNDS Day. Our awareness day is April 5th because, in April 2016, the first paper describing OCNDS was published. Initially, there were five children identified in the paper with OCNDS. Soon these five children would be joined by others around the world. This year, we hosted our second International OCNDS Day. Following our theme of No Family Walk Alone, which launched an online awareness video campaign in which we asked the world to Stand With Us on this journey. 

Other 2021 awareness - Our President, Jennifer Sills, had the privilege of being interviewed by Wordly COO, Kirk Hendrickson, regarding the unique challenges our foundation faces in removing barriers for our families to participate in our events (webinars, Q&A sessions, monthly family meetings). We continuously strive to ensure that all our families can share their stories and learn from each other. We are grateful for affordable platforms that help us extend our reach and accelerate our mission.

Fundraising

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In a time of great uncertainty, our donors’ generosity knew no bounds. This organization is run on the blood, sweat, and sometimes tears of volunteers. A vast majority of the money raised goes toward life-changing research, and the remainder goes to family educational programming to bolster the patient voice. With our donors’ generosity, we continued to fund life-changing research and vital family programming. 

On October 16th & 17th, we hosted our first Run, Walk & Roll fundraiser and awareness campaign! We invited friends, family, and supporters to move into action for OCNDS. We set a fundraising goal of $10,000. We surpassed our goal and raised over $18,000. We also sold 163 event t-shirts. Families and supporters participated from all over the world: Australia, UAE, France, Italy, Austria, United Kingdom, United States, and Canada. A special thank you to everyone who created a Facebook fundraiser, including Team Brady, Team Kind Cordelia, Team Ellie, Michelle Proctor-Simms, Team Rockin’ Robin, Équipe Éden Romeo, Friends of Cody, Team Kirsty, Team Runnin’ with Rowan, Team Jules Rules, Abilgaile Firth, Jules’ Journey, Quinn Niess, Matilda’s fundraiser for OCNDS, Team Samuel, and Team Happy Harper.

On November 30, 2021, the world was united by Giving Tuesday, a global day of giving. We launched our No Family Walks Alone Campaign. We raised a record-breaking total of $168,749 from Facebook, Instagram, online donations, and mail-in donations, plus the matching donation. Thank you to all of our donors and supporters for making this a huge success! A heartfelt thank you to Joan & Charlie Davis for matching $50,000 of donations made to the Foundation. Facebook matched $1046 of donations made to CSNK2A1 Foundation for Giving Tuesday.

Empowerment & Education

Due to COVID-19 restrictions, our in-person scientific and family conference pivoted to a virtual event. In partnership with Simons Searchlight, the virtual family conference took place over 3 days in July and August. We had an overwhelming response to the virtual conference. PAB member Elisabeth Mellinger said, “my favorite session was the one where Dr. Dominguez, Dr. Rebholz, and Dr. Okur talked about research that is happening and how CK2 works in the body.” OCNDS Parent Penelope Gatlin mentioned that her second favorite was Understanding Problem Behaviors in Neurodevelopmental Disorders. Recordings of the conference sessions are available on our website. We hope to see everyone in person next year, 2022, in Baltimore. 

In 2021, our PAB was incredibly busy. In February, they conducted the first-ever Needs Assessment Survey of the OCNDS community. The results from this survey would inform all Foundation decisions, including our research priorities and agenda. The survey consisted of 31 unique questions that collected both qualitative and quantitative information about OCNDS. 66 families participated in the survey, and 9 different languages were represented. We discovered: 

• The most common OCNDS symptoms reported were speech delay, global development delay, learning disabilities/cognitive impairment, delayed motor skills, low muscle tone, short stature, sensory processing issues, dental problems, Autism Spectrum Disorder traits, constipation, vision issues, eating small amounts, and ADHD.
• The top reported concerns about people living with OCNDS right now are speech, independent living, toileting, education, fine and gross motor, self-care/hygiene/sleep, behavioral, emotional, and puberty. The overwhelming concern about the future was independent living, followed by what will happen to OCNDS children when their parents/caretakers are no longer alive.
• 75% of participants have heard of Simons Searchlight OCNDS Natural History Study, but only just over half of these families have actually participated. Many in our community do not know why participating in research is important and would like more information. We held a webinar to address these concerns and increase participation.

Receiving an OCNDS diagnosis can be overwhelming and heartrending. Our PAB understands how difficult it can be to navigate an OCNDS diagnosis. To help families on this journey, our PAB developed an OCNDS/CSNK2A1 Foundation brochure. This brochure can be shared with your family, friends, teachers, providers, and clinicians to learn more about OCNDS. 

We partnered with Wordly Inc. to bring families from all over the world together using AI real-time translation technology. It is a vital part of our mission to strengthen and amplify the patient voice. By removing the language barrier to participation, we are ensuring that every OCNDS family, regardless of their native language, has a voice and can participate. We can now provide a space for non-English speaking OCNDS families to connect, share ideas, and drive research forward. 

In 2021, we continued our Parent Education Webinar Series. We provide informational videos to help parents and patients navigate their rare diagnosis and inform them about the different types of interventions available. The more families know about different types of therapies and services, the more vital and vibrant OCNDS patients’ lives can be. In April, we hosted a webinar about Alternative Communication. Severe speech delay or inability to speak is one of the hallmark symptoms of OCNDS. The use of Augmentative-Alternative Communication (AAC) provides a “voice” and a means of communication to those who cannot rely on their natural speech to communicate. When children and adults cannot use speech to communicate effectively in all situations, there are options. And in December, we hosted a webinar about the benefits of Equine Therapy with Lulu Bogolin, Executive Director of Equine-Assisted Therapy, Inc., and PAB member, Terri Jordan. 

The scientific language in published research papers can be so complex you may feel like you need a Ph.D. to understand what they are saying. To address this issue, in Q2, with the help of our researchers, we launched a new program called Research Explained. We ask researchers to explain their research in a language we can all understand. We believe we have a duty to make sure people affected by OCNDS and their families can easily understand their diagnosis and to empower them to be effective advocates. In 2021, two new OCNDS research papers were published in 2021, and our families could easily digest these papers with this new program in place. 

Connection

Part of our mission is to foster connection and community for OCNDS families. OCNDS families can feel defeated, isolated, unheard, and unseen. Finding a community can make all the difference on this rare disease journey. We welcomed 64 new OCNDS families into our community. The new families spanned the globe: Poland, United Kingdom, Norway, France, Portugal, Romania, Italy, Malaysia, Canada, Spain, Brazil, Germany, United States, and Australia. With increased access to genetic testing, we will continue finding more families. 

Running a small but mighty rare disease organization takes a village and a vineyard. Our village is the lifeblood of our organization. We had 30 volunteers who generously donated their time. Our volunteers span the globe - from Australia to Italy to Texas to Los Angeles to Chicago to New York to San Francisco. 

Partnership & Family Resources

Every year, we form more and more partnerships with other rare disease organizations. Working together and sharing ideas will only help us achieve our mission faster and more efficiently. In 2021, we became members of 2 different organizations: 

• REN - Rare Epilepsy Network. The mission of Rare Epilepsy Network (REN) is to work with urgency to collaboratively improve outcomes of rare epilepsy patients and families by fostering patient-focused research and advocacy. 
• Cal Rare. They are dedicated to improving the lives of rare disease patients in California. They are a coalition of rare disease stakeholders with the goal of raising awareness among the general public and decision-makers regarding rare diseases. 

Conclusion

We are excited for 2022: "New year—a new chapter, new verse, or just the same old story? Ultimately we write it. The choice is ours." Our choice is to move into action to create opportunities for our loved ones with OCNDS to live their most independent, vital, and vibrant lives. There is no mountain too high for our OCNDS community. We will tackle every obstacle in our path to treatment. 2022 is the year of unlimited possibilities for our community.