Understanding
Okur-Chung Neurodevelopmental Syndrome
2022 Year in Review
Our theme for 2022 was "No Mountain Too High." It serves as a poignant reminder that this year has underscored the remarkable power of our collective voice, whether big or small, to effect positive change in the world.
Okur-Chung Neurodevelopmental Syndrome ("OCNDS") is characterized by symptoms such as speech delay or inability to speak, epilepsy, global developmental delay, autism spectrum traits, cognitive impairment, hypotonia, and feeding difficulties, ranging in severity and significantly impacting daily life.
OCNDS families embarking on this rare disease journey face numerous hurdles, from diagnosis to care, treatment, and the quest for a cure. On average, it takes seven years for families to arrive at the correct diagnosis. In 2016, when families received a diagnosis, there was no foundation, information, website, or supportive community for OCNDS families. In response, we took the initiative and founded the CSNK2A1 Foundation, paving the way for our mission to find a cure for OCNDS and ensure those affected lead happy, fulfilling lives. Science is advancing rapidly, overturning the belief that rare diseases like OCNDS are incurable.
With the generous support of our donors, we are the driving force behind OCNDS research, a stark contrast from our initial days when there was only one paper describing the syndrome.
We firmly believe in the power of teamwork to overcome obstacles. Our researchers have come together, sharing data, publishing research findings, and, notably, engaging with OCNDS families to understand their daily struggles firsthand.
The journey to find a cure for OCNDS continues, and together, we stand united, undeterred by any challenge, for there is truly no mountain too high for our community.
Highlights from 2022:
Research Update:
Two critical research papers were published by researchers funded by the Foundation, shedding light on the implications of a common OCNDS mutation (K198R) and comparing OCNDS to a related syndrome called POBINDS. The findings will help guide future treatment approaches.
Our dedicated team of researchers expanded to over 30 scientists across six leading institutions worldwide.
Continued progress through our dedicated OCNDS research program at TGen.
Engaged Sampled to make 4 Isogenic Control lines, adding to our research toolbox to aid in disease modeling and drug screening.
Welcomed new Scientific Advisory Board member Dr. Tika Benveniste, bringing extensive expertise in signaling pathways involving CK2.
Hosted quarterly scientific roundtables to foster collaboration and progress.
Together with Simons Searchlight, hosted our first in-person scientific conference in Baltimore, Maryland.
Through our contact registry program, 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. Ninety-three individuals have registered, with ninety giving their consent. Seventy-four participants have provided lab reports, fifty-eight have completed their medical history profiles, and twenty-two have generously contributed blood samples.
Began collaboration talks with Unravel Biosciences to determine whether we can repurpose approved FDA drugs as a treatment option for those with OCNDS.
Awareness:
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.
On April 5th, our 3rd International OCNDS Day, we brought global attention through an awareness video and illuminated landmarks, such as Niagara Falls and High-Level Bridge, and local community events.
In Alabama, a local TV segment highlighted one OCNDS family and their excitement about receiving a travel grant from our Foundation to attend our in-person conference.
"Once Upon a Gene" podcast by Effie Parks, an impactful platform for rare disease parenting, has a monthly series, "A Rare Collection," highlighting rare disease voices. May's theme, "UP AT NIGHT," featured President Jennifer Sills sharing her powerful rare disease story.
Reynolds Family's Awareness Day celebration at Brewability in Englewood, Colorado, united the community, featuring live music and exciting giveaways, and Brewability donated 15% of sales to support CSNK2A1 Foundation's research efforts.
Harper, a child living with OCNDS, was featured in an inspiring painting by Matt J. Harline celebrating her skiing achievements. Artist Harline aims to create a book of paintings showcasing the accomplishments of children with rare disorders to be featured in hospital art exhibits and a book highlighting the achievements of children with rare disorders.
In November, we earned a 2022 Top-Rated Award from Great Nonprofits.
Fundraising:
Our annual golf tournament in Tarzana, California, at El Caballero Country Club, set foundation fundraising records, raising over $380,000 thanks to 133 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.
Successful virtual Run, Walk & Roll event raising over $10,000 with 192 participants across six countries.
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.
OCNDS dad, David Cole, raised funds through a Krispy Kreme donut sale, selling over 75 boxes of donuts.
Empowerment, Education & Connection:
Together with Simons Searchlight, HIVEP2, MED13L, and SETBP1 Foundations, we hosted our first in-person conference since 2018, uniting families, researchers, and clinicians. Our families had a unique opportunity to participate in research on-site as Simons Searchlight provided grants to over four researchers to conduct research across groups at the conference.
Awarded travel scholarships to seven OCNDS families to offset travel costs to our in-person conference.
Donors Joan and Charlie Davis generously donated a 3-day hotel stay for each OCNDS family attending the conference to help remove the financial barriers to participation.
Hosted an additional virtual Q&A one month after the conference with distinguished experts Dr. Wendy Chung, Dr. Volkan Okur, and Dr. Isabel Dominguez as another invaluable opportunity to gain insights and clarity and engage in meaningful dialogue with these prominent researchers.
Our 2022 conference closed with a poignant quilting event that underscored our conference theme, "We Got You Covered," highlighting our commitment to no OCNDS family walking alone on this journey. Families and researchers created quilt squares memorializing hopes and dreams, which volunteer Fern Ruth assembled into an incredible quilt symbolic of our unwavering support to OCNDS families.
Selected our second Parent Advisory Board (PAB) to serve 2022-2024, and they participated in 1 of 2 Dare to Lead™ workshops led by executive coach Katie Fredericksen.
PAB completed our community's second needs assessment survey, with active participation from 43 OCNDS families. The findings will significantly influence our research priorities. Interesting insights included:
An overwhelming 95% of those surveyed reported feeling supported by the Foundation.
The types of therapies that families believe have greatly benefitted their children living with OCNDS include speech, occupational therapy, physical therapy, early intervention, equine therapy, and sensory integration therapy.
The answers varied when asked what a meaningful change would be for each family. Some meaningful changes mentioned were using the toilet independently, speaking 100 words, having fewer break-through seizures, having a g-tube removed and eating by mouth, developing friendships, and having the stamina to hold a job.
Moved from quarterly family Zoom calls to monthly 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 AI to provide live-caption translation during our family Zoom calls to remove the language barrier to participation since we have OCNDS families from over 32 countries, speaking 19 languages.
OCNDS Dad Brian Reynolds hosted a new dad-focused discussion group to support dads.
Launched a new OCNDS Compassion Initiative focused on empowering OCNDS families to become advocates and educators within the medical community. This important effort aims to foster greater understanding and empathy for the unique challenges faced by rare disease families in obtaining proper diagnosis, care, and treatment.
Our President, Jennifer Sills, was invited to participate in the Ultragenyx Rare Entrepreneur Boot Camp, an invaluable opportunity made possible by Ultragenyx, a leading biopharmaceutical company committed to pioneering novel treatments for severe rare and ultra-rare genetic diseases.
Welcomed thirty-six new OCNDS families into our ever-growing community, hailing from Norway, the UK, Denmark, the USA, Romania, Italy, France, Canada, Taiwan, Poland, Spain, Albania, Brazil, China, Stockholm, and Slovenia.
Forty-one 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, and San Francisco.
Added a part-time staffer, Beth Chaffin, to enhance family support and operations.
Partnerships & Resources:
Joined CombinedBrain consortium to accelerate treatments by pooling data across rare disease groups.
PAB created the OCNDS Awareness Card, a printable, easy-to-carry awareness card, used as a tool to help diffuse awkward moments with and/or unwanted intrusions by family, friends, and/or curious onlookers, while spreading awareness.
Conclusion
As 2022 comes to a close, we stand on the brink of exciting opportunities for 2023. We are poised for expansion and growth, bolstering our relentless pursuit of promising research. To further our mission, we are actively searching for a Science Program Director—a dynamic leader to steer our scientific endeavors. The Chan Zuckerberg Initiative's (CZI) Rare as One program grant is a testament to our ongoing dedication and a means to advance our work. This grant validates our efforts and aids in funding the pivotal Science Program Director role. The year ahead is full of promise, and this remarkable journey underscores the extraordinary transformation from a volunteer-based foundation in 2016 to the dynamic, growing force for change that we have become.
Okur-Chung Neurodevelopmental Syndrome ("OCNDS") is characterized by symptoms such as speech delay or inability to speak, epilepsy, global developmental delay, autism spectrum traits, cognitive impairment, hypotonia, and feeding difficulties, ranging in severity and significantly impacting daily life.
OCNDS families embarking on this rare disease journey face numerous hurdles, from diagnosis to care, treatment, and the quest for a cure. On average, it takes seven years for families to arrive at the correct diagnosis. In 2016, when families received a diagnosis, there was no foundation, information, website, or supportive community for OCNDS families. In response, we took the initiative and founded the CSNK2A1 Foundation, paving the way for our mission to find a cure for OCNDS and ensure those affected lead happy, fulfilling lives. Science is advancing rapidly, overturning the belief that rare diseases like OCNDS are incurable.
With the generous support of our donors, we are the driving force behind OCNDS research, a stark contrast from our initial days when there was only one paper describing the syndrome.
We firmly believe in the power of teamwork to overcome obstacles. Our researchers have come together, sharing data, publishing research findings, and, notably, engaging with OCNDS families to understand their daily struggles firsthand.
The journey to find a cure for OCNDS continues, and together, we stand united, undeterred by any challenge, for there is truly no mountain too high for our community.
Highlights from 2022:
Research Update:
Two critical research papers were published by researchers funded by the Foundation, shedding light on the implications of a common OCNDS mutation (K198R) and comparing OCNDS to a related syndrome called POBINDS. The findings will help guide future treatment approaches.
Our dedicated team of researchers expanded to over 30 scientists across six leading institutions worldwide.
Continued progress through our dedicated OCNDS research program at TGen.
Engaged Sampled to make 4 Isogenic Control lines, adding to our research toolbox to aid in disease modeling and drug screening.
Welcomed new Scientific Advisory Board member Dr. Tika Benveniste, bringing extensive expertise in signaling pathways involving CK2.
Hosted quarterly scientific roundtables to foster collaboration and progress.
Together with Simons Searchlight, hosted our first in-person scientific conference in Baltimore, Maryland.
Through our contact registry program, 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. Ninety-three individuals have registered, with ninety giving their consent. Seventy-four participants have provided lab reports, fifty-eight have completed their medical history profiles, and twenty-two have generously contributed blood samples.
Began collaboration talks with Unravel Biosciences to determine whether we can repurpose approved FDA drugs as a treatment option for those with OCNDS.
Awareness:
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.
On April 5th, our 3rd International OCNDS Day, we brought global attention through an awareness video and illuminated landmarks, such as Niagara Falls and High-Level Bridge, and local community events.
In Alabama, a local TV segment highlighted one OCNDS family and their excitement about receiving a travel grant from our Foundation to attend our in-person conference.
"Once Upon a Gene" podcast by Effie Parks, an impactful platform for rare disease parenting, has a monthly series, "A Rare Collection," highlighting rare disease voices. May's theme, "UP AT NIGHT," featured President Jennifer Sills sharing her powerful rare disease story.
Reynolds Family's Awareness Day celebration at Brewability in Englewood, Colorado, united the community, featuring live music and exciting giveaways, and Brewability donated 15% of sales to support CSNK2A1 Foundation's research efforts.
Harper, a child living with OCNDS, was featured in an inspiring painting by Matt J. Harline celebrating her skiing achievements. Artist Harline aims to create a book of paintings showcasing the accomplishments of children with rare disorders to be featured in hospital art exhibits and a book highlighting the achievements of children with rare disorders.
In November, we earned a 2022 Top-Rated Award from Great Nonprofits.
Fundraising:
Our annual golf tournament in Tarzana, California, at El Caballero Country Club, set foundation fundraising records, raising over $380,000 thanks to 133 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.
Successful virtual Run, Walk & Roll event raising over $10,000 with 192 participants across six countries.
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.
OCNDS dad, David Cole, raised funds through a Krispy Kreme donut sale, selling over 75 boxes of donuts.
Empowerment, Education & Connection:
Together with Simons Searchlight, HIVEP2, MED13L, and SETBP1 Foundations, we hosted our first in-person conference since 2018, uniting families, researchers, and clinicians. Our families had a unique opportunity to participate in research on-site as Simons Searchlight provided grants to over four researchers to conduct research across groups at the conference.
Awarded travel scholarships to seven OCNDS families to offset travel costs to our in-person conference.
Donors Joan and Charlie Davis generously donated a 3-day hotel stay for each OCNDS family attending the conference to help remove the financial barriers to participation.
Hosted an additional virtual Q&A one month after the conference with distinguished experts Dr. Wendy Chung, Dr. Volkan Okur, and Dr. Isabel Dominguez as another invaluable opportunity to gain insights and clarity and engage in meaningful dialogue with these prominent researchers.
Our 2022 conference closed with a poignant quilting event that underscored our conference theme, "We Got You Covered," highlighting our commitment to no OCNDS family walking alone on this journey. Families and researchers created quilt squares memorializing hopes and dreams, which volunteer Fern Ruth assembled into an incredible quilt symbolic of our unwavering support to OCNDS families.
Selected our second Parent Advisory Board (PAB) to serve 2022-2024, and they participated in 1 of 2 Dare to Lead™ workshops led by executive coach Katie Fredericksen.
PAB completed our community's second needs assessment survey, with active participation from 43 OCNDS families. The findings will significantly influence our research priorities. Interesting insights included:
An overwhelming 95% of those surveyed reported feeling supported by the Foundation.
The types of therapies that families believe have greatly benefitted their children living with OCNDS include speech, occupational therapy, physical therapy, early intervention, equine therapy, and sensory integration therapy.
The answers varied when asked what a meaningful change would be for each family. Some meaningful changes mentioned were using the toilet independently, speaking 100 words, having fewer break-through seizures, having a g-tube removed and eating by mouth, developing friendships, and having the stamina to hold a job.
Moved from quarterly family Zoom calls to monthly 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 AI to provide live-caption translation during our family Zoom calls to remove the language barrier to participation since we have OCNDS families from over 32 countries, speaking 19 languages.
OCNDS Dad Brian Reynolds hosted a new dad-focused discussion group to support dads.
Launched a new OCNDS Compassion Initiative focused on empowering OCNDS families to become advocates and educators within the medical community. This important effort aims to foster greater understanding and empathy for the unique challenges faced by rare disease families in obtaining proper diagnosis, care, and treatment.
Our President, Jennifer Sills, was invited to participate in the Ultragenyx Rare Entrepreneur Boot Camp, an invaluable opportunity made possible by Ultragenyx, a leading biopharmaceutical company committed to pioneering novel treatments for severe rare and ultra-rare genetic diseases.
Welcomed thirty-six new OCNDS families into our ever-growing community, hailing from Norway, the UK, Denmark, the USA, Romania, Italy, France, Canada, Taiwan, Poland, Spain, Albania, Brazil, China, Stockholm, and Slovenia.
Forty-one 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, and San Francisco.
Added a part-time staffer, Beth Chaffin, to enhance family support and operations.
Partnerships & Resources:
Joined CombinedBrain consortium to accelerate treatments by pooling data across rare disease groups.
PAB created the OCNDS Awareness Card, a printable, easy-to-carry awareness card, used as a tool to help diffuse awkward moments with and/or unwanted intrusions by family, friends, and/or curious onlookers, while spreading awareness.
Conclusion
As 2022 comes to a close, we stand on the brink of exciting opportunities for 2023. We are poised for expansion and growth, bolstering our relentless pursuit of promising research. To further our mission, we are actively searching for a Science Program Director—a dynamic leader to steer our scientific endeavors. The Chan Zuckerberg Initiative's (CZI) Rare as One program grant is a testament to our ongoing dedication and a means to advance our work. This grant validates our efforts and aids in funding the pivotal Science Program Director role. The year ahead is full of promise, and this remarkable journey underscores the extraordinary transformation from a volunteer-based foundation in 2016 to the dynamic, growing force for change that we have become.