Understanding
Okur-Chung Neurodevelopmental Syndrome
2020 Year in Review
We are all eager to leave 2020 behind; however, as our third year comes to an end, we are filled with tremendous hope! Our small but mighty organization surpassed our initial 3-year objectives. In our first three years, we:
We have extensive and lofty objectives for the next three years which will only be achieved by the entire OCNDS community working together. Our research goals are simple – to advance the understanding of the disease mechanisms and to develop therapeutic treatments. Fundraising is vital to our success and our ability to meet our research objectives. Without our supporters, donors, and OCNDS families, HOPE wouldn’t be possible. Thank you!
Research Update
There is no treatment or cure for Okur-Chung Neurodevelopmental Syndrome (OCNDS) YET. Although COVID-19 closures affected almost every aspect of life, our researchers never stopped working towards answers and a cure. Currently, a core group of scientists, who have been working on the CSNK2A1 gene since before it was associated with OCNDS, are conducting functional studies for selected CSNK2A1 variants.
CSNK2A1 is like a ‘switch’ for many other proteins, including genes associated with neural function. Our researchers are looking at OCNDS from different angles:
In 2020, we awarded four new research grants that will help us to understand how OCNDS arises and to explore potential therapeutics. The grants were awarded to:
In 2020, we continued our collaboration with Simons Searchlight who is conducting a CSNK2A1/OCNDS long-term natural history study. We are improving our community’s understanding of OCNDS through our families’ participation in the Simons Searchlight study. 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. To learn more about Simons Searchlight visit https://www.simonssearchlight.org
In continued collaboration with Simons Searchlight, in 2021, we expect to have 8 to 9 iPSC cells available to qualified researchers. 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 is affecting neurons and other cells in the body. This will be an exciting addition to our research toolbox. We are beyond grateful to Simons Searchlight for orchestrating the making of these cells. Thank you to our OCNDS families who have donated blood to Simons Searchlight for the creation of this incredible research tool.
In May, in partnership with Simons Searchlight, we hosted our first virtual scientific conference. Researchers and scientists from all over the globe joined. 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. In 2021, we look forward to being in person for our second scientific conference.
Awareness
Never underestimate the power of knowledge and awareness. We strive to elevate awareness of OCNDS. Most, if not all doctors, have never heard of OCNDS. We are changing this. 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 every year on the last day of February, which this year was the 29th of February, a leap year. Rare Disease Day is dedicated to raising awareness for people living with a rare disease. The rare disease community and its supporters came together to share this message: “Rare is many. Rare is strong. Rare is proud!” This year, Rare Disease Day highlighted the need for more equitable access to social opportunity, treatment, and care for the 300 million people living with a rare disease and their families around the world. We loved seeing our OCNDS families bringing awareness to their communities for Rare Disease Day. An OCNDS parent Erica shared: “My son, Jordan, is 6 years old and has OCNDS. I want to bring awareness to our community about OCNDS. Today, here in the Rio Grande Valley, we held an awareness event at his elementary school. It made me feel so amazed how much support he had from his own school and classmates. It is incredible that yesterday they didn’t know what OCNDS was and now, today, they do!” Congratulations to all of our OCNDS families and supporters on their successful awareness events!
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 first International OCNDS Day. It was an online awareness campaign called Take 5. In honor of the first five patients who on April 5th, finally received a diagnosis for the symptoms that affected their ability to talk, walk, eat and live normal lives, we asked people to Take 5. We asked people to give us 5 minutes of their time to watch this video about those individuals living with OCNDS and to use their voices and share the video with 5 of their friends and family.
We were also given the opportunity to bring awareness to OCNDS through the power of a podcast, two films, testimony to the California legislature, and an online article.
In May, our president shared her family’s journey with OCNDS and the creation of the CSNK2A1 Foundation with Tammie Carpenter Bennett on the Show Up Society podcast . Thank you, Tammie, for helping bring awareness to OCNDS and for shining a light on our small but mighty OCNDS army!
- Strengthened communication, offered encouragement, and provided resources to OCNDS families via our website and social media pages;
- Developed reagents and made them widely available to researchers which will make it easier for researchers to develop treatments for OCNDS and gain a better understanding of OCNDS;
- Supported research that will help us begin to understand the biochemistry of OCNDS;
- Maintained and grew a patient registry program;
- Facilitated and planned an in-person family meeting to foster hope, community, collaboration, and a further understanding of OCNDS; and
- Raised the profile of this ultra-rare disorder through media attention, the creation of a public awareness campaign, and the formation of a strong advocacy group.
We have extensive and lofty objectives for the next three years which will only be achieved by the entire OCNDS community working together. Our research goals are simple – to advance the understanding of the disease mechanisms and to develop therapeutic treatments. Fundraising is vital to our success and our ability to meet our research objectives. Without our supporters, donors, and OCNDS families, HOPE wouldn’t be possible. Thank you!
Research Update
There is no treatment or cure for Okur-Chung Neurodevelopmental Syndrome (OCNDS) YET. Although COVID-19 closures affected almost every aspect of life, our researchers never stopped working towards answers and a cure. Currently, a core group of scientists, who have been working on the CSNK2A1 gene since before it was associated with OCNDS, are conducting functional studies for selected CSNK2A1 variants.
CSNK2A1 is like a ‘switch’ for many other proteins, including genes associated with neural function. Our researchers are looking at OCNDS from different angles:
- structural biology
- biochemistry
- cellular biology
- neural function,
- behavior in mouse models,
- and embryonic development in animal models like zebrafish and Xenopus (frogs).
In 2020, we awarded four new research grants that will help us to understand how OCNDS arises and to explore potential therapeutics. The grants were awarded to:
- 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;
- Dr. Karsten Niefind , a structural biologist at the University of Cologne in Germany , with extensive expertise in the crystallization and 3D structure of CK2 proteins;
- Dr. Joachim Jose , an expert in protein-protein interaction and kinase inhibitors at Westfalian Wilhelms- the University of Münster in Germany ; and
- Dr. Isabel Dominguez , a cell and development biologist at Boston University .
In 2020, we continued our collaboration with Simons Searchlight who is conducting a CSNK2A1/OCNDS long-term natural history study. We are improving our community’s understanding of OCNDS through our families’ participation in the Simons Searchlight study. 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. To learn more about Simons Searchlight visit https://www.simonssearchlight.org
In continued collaboration with Simons Searchlight, in 2021, we expect to have 8 to 9 iPSC cells available to qualified researchers. 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 is affecting neurons and other cells in the body. This will be an exciting addition to our research toolbox. We are beyond grateful to Simons Searchlight for orchestrating the making of these cells. Thank you to our OCNDS families who have donated blood to Simons Searchlight for the creation of this incredible research tool.
In May, in partnership with Simons Searchlight, we hosted our first virtual scientific conference. Researchers and scientists from all over the globe joined. 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. In 2021, we look forward to being in person for our second scientific conference.
Awareness
Never underestimate the power of knowledge and awareness. We strive to elevate awareness of OCNDS. Most, if not all doctors, have never heard of OCNDS. We are changing this. 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 every year on the last day of February, which this year was the 29th of February, a leap year. Rare Disease Day is dedicated to raising awareness for people living with a rare disease. The rare disease community and its supporters came together to share this message: “Rare is many. Rare is strong. Rare is proud!” This year, Rare Disease Day highlighted the need for more equitable access to social opportunity, treatment, and care for the 300 million people living with a rare disease and their families around the world. We loved seeing our OCNDS families bringing awareness to their communities for Rare Disease Day. An OCNDS parent Erica shared: “My son, Jordan, is 6 years old and has OCNDS. I want to bring awareness to our community about OCNDS. Today, here in the Rio Grande Valley, we held an awareness event at his elementary school. It made me feel so amazed how much support he had from his own school and classmates. It is incredible that yesterday they didn’t know what OCNDS was and now, today, they do!” Congratulations to all of our OCNDS families and supporters on their successful awareness events!
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 first International OCNDS Day. It was an online awareness campaign called Take 5. In honor of the first five patients who on April 5th, finally received a diagnosis for the symptoms that affected their ability to talk, walk, eat and live normal lives, we asked people to Take 5. We asked people to give us 5 minutes of their time to watch this video about those individuals living with OCNDS and to use their voices and share the video with 5 of their friends and family.
We were also given the opportunity to bring awareness to OCNDS through the power of a podcast, two films, testimony to the California legislature, and an online article.
In May, our president shared her family’s journey with OCNDS and the creation of the CSNK2A1 Foundation with Tammie Carpenter Bennett on the Show Up Society podcast . Thank you, Tammie, for helping bring awareness to OCNDS and for shining a light on our small but mighty OCNDS army!
Our president also had the honor of interviewing the families featured in the documentary Good Days, Bad Days, Rare Days which was released in 2020. Here are some of her thoughts from the experience:
I was so grateful to Bo Bigelow and Daniel DeFabio, the Co-Founders of Disorder: The Rare Disease Film Festival, for the opportunity to speak with these extraordinary, rare warriors. Even though our rare diseases are vastly different, it was incredible to see how our journeys are so strikingly similar.
During the interviews, I found myself crying because I saw myself in them. I heard my words, my thoughts, and my feelings in their words. It was as if I was sitting across from myself. I know the pain of which they are speaking. I experience the hope that they feel. I share many of the same wishes and dreams that they have for their own children. I also know the urgency and call to action that they feel. It made me feel a part of a larger community. It made me feel less alone. The isolation and loneliness that come with having a child with a rare disease are suffocating. It is indeed rare to feel like someone else truly understands what it is like to care for someone who is rare. The true beauty of this film is the power to see your own story in others and realize you are a part of a community even larger than your own rare disease community.
Thank you Daniel DeFabio and Bo Bigelow for this beautiful reminder that we are NOT alone!
In August, our president gave testimony at the California Rare Disease Caucus about how COVID-19 closures and the lack of access to medically necessary services for her daughter Jules, who has OCNDS, led to unprecedented regression. She explained that Jules’ lifeline to the world is structure, a schedule, and consistency. In March, with the abrupt school closures and the loss of services, Jules’ lifeline disappeared and soon did the Jules they knew. Their story isn’t unlike many others with rare diseases or OCNDS during these complicated times. In California alone, there are 4 million people living with a rare disease. States, including California, struggled to strike a balance between keeping families safe and healthy and providing services to rare disease patients that they so desperately needed. In her testimony, Jennifer asked California assembly members: “As you are making decisions about prioritizing what to open, where and when, I ask you to please remember Jules and other children like her and how they are struggling every hour of every day that goes by without the services that are vital to preserving their mental health and maintaining their skills that they have worked tirelessly for years to gain.” Thank you to Cal Rare and Angela Ramirez Holmes for giving our president the opportunity to share Jules’ story.
We are a proud member of the Global Genes Foundation Alliance. Global Genes’ mission is to connect, empower and inspire the rare disease community. As part of the Foundation Alliance, we have the opportunity to collaborate and exchange best practices with other rare disease organizations to drive better outcomes for the rare disease community. In October, Global Genes profiled our president and the CSNK2A1 Foundation.
In December, Cheryl-Lynn Townsin made an incredibly powerful documentary film in memory of her extraordinary daughter, Lexi. The film shares Lexi’s rare disease journey alongside 7 other inspiring rare disease families. The film, Rare Humans: Turning Hope Into Action , features stories of amazing families who are stopping at nothing to find a cure for their children. We are beyond honored and humbled that the Sills family’s journey and the Foundation’s efforts are included in this powerful film.
Fundraising
We had no idea what to expect in this unprecedented year. In a time of great uncertainty, our donors’ generosity knew no bounds. We have no paid employees. 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 were able to continue to fund life-changing research and programming.
Due to the COVID-19 global health crisis, we canceled our 2nd annual Drive for Diagnosis golf classic scheduled for April 20th at El Caballero Country Club. The golf classic is our largest source of funding. Our Golf Committee, together with our Board of Directors, decided to refund any donor who requested a refund. We are proud to report that not one donor asked for their donation to be returned. Our golf donors allowed us to retain their donations to help our research and development efforts. Thanks to their generosity, we raised $150,000. Half of the net proceeds raised continued to support the CSNK2A1/OCNDS research program at TGEN’s Center For Rare Childhood Disorders led by Dr. Vinodh Narayanan. TGen is an Arizona-based nonprofit medical research institute dedicated to conducting groundbreaking research with life-changing results. To learn more about TGen visit http://www.tgen.org . Thank you to our golf committee: Micheal Kaplan, Jr (Co-Chair), J. Michael Grossman, Joey Behrstock, Mike Grossman, Avisha Patel, and Jason Sills.
On December 1, 2020, the world was united by Giving Tuesday, a global day of giving. We launched our Gift of Hope Campaign for Giving Tuesday. We raised a total of $60,025.59 from Facebook, Instagram, online donations, and mail-in donations. Facebook matched $226 in donations for our Gift of Hope fundraiser. Donors, Joan and Charlie Davis, generously matched all donations dollar-for-dollar made to the foundation for Giving Tuesday during the month of December for a grand total of $120,051.18 . Thank you to all of our donors and supporters for making this a huge success! Joan and Charlie Davis, we can’t thank you enough for your generosity and continued support!
Empowerment & Education
Due to COVID-19 restrictions, our in-person scientific and family conference shifted to an online virtual event. In partnership with Simons Searchlight, the virtual conference took place over 3 days in August. It was an information-packed 3 days. The topics were Challenging Behaviors; Genetics 101 & how to read your genetic report; what is Simons Searchlight; what is SFARI science?; IPSCs; Animal Models; Gene Therapies; Clinical Trials; Simons Searchlight CSNK2A1 registry results; Understanding the effect of disease-causing mutations on CK2; genotype-phenotype analysis of OCNDS; and the CSNK2A1 Foundation Update. Recordings of the conference sessions are available on our website. We hope to see everyone in person next year, 2021, in Baltimore.
In June, we selected our inaugural Parent Advisory Board (“PAB”). The PAB is comprised of 10 passionate parents from around the globe, representing the United Kingdom, the United States, Australia, Canada, and Austria. https://www.csnk2a1foundation.org/parent-advisory-board/ Our PAB advises our Board of Directors, brainstorms ideas, and shares insights from the parent perspective related to OCNDS. Their commitment is: 1-year commitment with one year option to extend, 6 hours of leadership training, 2 hours per month for Meeting Virtual Calls, and 5 hours a month minimum for PAB projects. This group is extremely motivated and is completing their first project – an online Needs Assessment Survey for our community that will set research priorities and the direction of our foundation for years to come. The survey will be released to our community on Monday, February 1, 2021.
In 2020, we launched our Parent Education Webinar Series. As OCNDS families try to navigate a new diagnosis, they can be overwhelmed with information. We want to 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. Our first webinar was about Music Therapy. Thank you to Kristin Moulder of Midwest Music Therapy Services for donating her time and talents to introduce Music Therapy to our community. Thank you to the Jordan family for sharing their experience with music therapy and participating in a demonstration. Be on the lookout for our quarterly release of the Parent Education Webinar Series.
We are not only funding research but we are also looking for tools for our families to use to help their children live independent, happy and full lives – which brought us to Missouri. Thank you Terri Jordan and her amazing family for their hospitality and for introducing us to Charting the LifeCourse. “The Charting the LifeCourse Framework was created by families to help individuals and families of all abilities and all ages develop a vision for a good life, think about what they need to know and do, identify how to find or develop supports, and discover what it takes to live the lives they want to live. Individuals and families may focus on their current situation and stage of life, but may also find it helpful to look ahead to think about life experiences that will help move them toward an inclusive, productive life in the future.” More to come about Charting the LifeCourse in 2021.
Connection
Every patient and their family has a unique story to tell about their rare disease journey. On average, it takes 7 grueling years for a family to receive a diagnosis. Families can feel defeated and isolated. Families can feel unheard and unseen. Finding a community can make all the difference on this rare disease journey. It is life-changing when someone understands your rare disease journey. Part of our mission is to foster connection and community for OCNDS families.
We identified 42 new OCNDS families from around the world, including New Zealand, France, Spain, the United Kingdom, the USA, Hong Kong, Portugal, Canada, Netherlands, Australia, India, and the UAE. People living with rare disease often face a diagnostic odyssey, typically waiting for years for a diagnosis and receiving multiple misdiagnoses along the way.
Volunteers are the lifeblood of our organization. We had 15 volunteers who generously donated their time. Our volunteers span the globe – from Italy to Texas to Los Angeles to Chicago to New York to San Francisco. Without our CSNK2A1 Foundation volunteer interpreters, we couldn’t have connected with our new families from around the globe.
In 2018, Dr. Wendy Chung and Dr. Volkan Okur provided our community with answers to the most common questions about OCNDS. From this, we created a printable one-page document containing the most common OCNDS questions to make it easy for families to share the information with friends, providers, teachers, and doctors. Since very little is known about OCNDS, this document serves as a lifeline to those living with OCNDS and their families. It helps patients and their families easily understand the diagnosis and provides recommendations for care. This year an OCNDS family from the UAE with the help of their treating physician translated the one-pager into Arabic. The one-pager is now available in 9 languages.
Partnership & Family Resources
Every year, we form more and more partnerships with other rare disease organizations. And we will continue to do so. Working together and sharing ideas will only help us achieve our mission faster and more efficiently. In 2020, we became members of four different organizations.
Conclusion
“The best way to predict the future is to create it.” We aren’t leaving OCNDS to chance. We are tirelessly working towards a future in which we have a treatment or a cure for OCNDS. We are creating a future in which our children are not plagued with OCNDS symptoms. With your continued support, we are transforming hope into action.
In August, our president gave testimony at the California Rare Disease Caucus about how COVID-19 closures and the lack of access to medically necessary services for her daughter Jules, who has OCNDS, led to unprecedented regression. She explained that Jules’ lifeline to the world is structure, a schedule, and consistency. In March, with the abrupt school closures and the loss of services, Jules’ lifeline disappeared and soon did the Jules they knew. Their story isn’t unlike many others with rare diseases or OCNDS during these complicated times. In California alone, there are 4 million people living with a rare disease. States, including California, struggled to strike a balance between keeping families safe and healthy and providing services to rare disease patients that they so desperately needed. In her testimony, Jennifer asked California assembly members: “As you are making decisions about prioritizing what to open, where and when, I ask you to please remember Jules and other children like her and how they are struggling every hour of every day that goes by without the services that are vital to preserving their mental health and maintaining their skills that they have worked tirelessly for years to gain.” Thank you to Cal Rare and Angela Ramirez Holmes for giving our president the opportunity to share Jules’ story.
We are a proud member of the Global Genes Foundation Alliance. Global Genes’ mission is to connect, empower and inspire the rare disease community. As part of the Foundation Alliance, we have the opportunity to collaborate and exchange best practices with other rare disease organizations to drive better outcomes for the rare disease community. In October, Global Genes profiled our president and the CSNK2A1 Foundation.
In December, Cheryl-Lynn Townsin made an incredibly powerful documentary film in memory of her extraordinary daughter, Lexi. The film shares Lexi’s rare disease journey alongside 7 other inspiring rare disease families. The film, Rare Humans: Turning Hope Into Action , features stories of amazing families who are stopping at nothing to find a cure for their children. We are beyond honored and humbled that the Sills family’s journey and the Foundation’s efforts are included in this powerful film.
Fundraising
We had no idea what to expect in this unprecedented year. In a time of great uncertainty, our donors’ generosity knew no bounds. We have no paid employees. 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 were able to continue to fund life-changing research and programming.
Due to the COVID-19 global health crisis, we canceled our 2nd annual Drive for Diagnosis golf classic scheduled for April 20th at El Caballero Country Club. The golf classic is our largest source of funding. Our Golf Committee, together with our Board of Directors, decided to refund any donor who requested a refund. We are proud to report that not one donor asked for their donation to be returned. Our golf donors allowed us to retain their donations to help our research and development efforts. Thanks to their generosity, we raised $150,000. Half of the net proceeds raised continued to support the CSNK2A1/OCNDS research program at TGEN’s Center For Rare Childhood Disorders led by Dr. Vinodh Narayanan. TGen is an Arizona-based nonprofit medical research institute dedicated to conducting groundbreaking research with life-changing results. To learn more about TGen visit http://www.tgen.org . Thank you to our golf committee: Micheal Kaplan, Jr (Co-Chair), J. Michael Grossman, Joey Behrstock, Mike Grossman, Avisha Patel, and Jason Sills.
On December 1, 2020, the world was united by Giving Tuesday, a global day of giving. We launched our Gift of Hope Campaign for Giving Tuesday. We raised a total of $60,025.59 from Facebook, Instagram, online donations, and mail-in donations. Facebook matched $226 in donations for our Gift of Hope fundraiser. Donors, Joan and Charlie Davis, generously matched all donations dollar-for-dollar made to the foundation for Giving Tuesday during the month of December for a grand total of $120,051.18 . Thank you to all of our donors and supporters for making this a huge success! Joan and Charlie Davis, we can’t thank you enough for your generosity and continued support!
Empowerment & Education
Due to COVID-19 restrictions, our in-person scientific and family conference shifted to an online virtual event. In partnership with Simons Searchlight, the virtual conference took place over 3 days in August. It was an information-packed 3 days. The topics were Challenging Behaviors; Genetics 101 & how to read your genetic report; what is Simons Searchlight; what is SFARI science?; IPSCs; Animal Models; Gene Therapies; Clinical Trials; Simons Searchlight CSNK2A1 registry results; Understanding the effect of disease-causing mutations on CK2; genotype-phenotype analysis of OCNDS; and the CSNK2A1 Foundation Update. Recordings of the conference sessions are available on our website. We hope to see everyone in person next year, 2021, in Baltimore.
In June, we selected our inaugural Parent Advisory Board (“PAB”). The PAB is comprised of 10 passionate parents from around the globe, representing the United Kingdom, the United States, Australia, Canada, and Austria. https://www.csnk2a1foundation.org/parent-advisory-board/ Our PAB advises our Board of Directors, brainstorms ideas, and shares insights from the parent perspective related to OCNDS. Their commitment is: 1-year commitment with one year option to extend, 6 hours of leadership training, 2 hours per month for Meeting Virtual Calls, and 5 hours a month minimum for PAB projects. This group is extremely motivated and is completing their first project – an online Needs Assessment Survey for our community that will set research priorities and the direction of our foundation for years to come. The survey will be released to our community on Monday, February 1, 2021.
In 2020, we launched our Parent Education Webinar Series. As OCNDS families try to navigate a new diagnosis, they can be overwhelmed with information. We want to 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. Our first webinar was about Music Therapy. Thank you to Kristin Moulder of Midwest Music Therapy Services for donating her time and talents to introduce Music Therapy to our community. Thank you to the Jordan family for sharing their experience with music therapy and participating in a demonstration. Be on the lookout for our quarterly release of the Parent Education Webinar Series.
We are not only funding research but we are also looking for tools for our families to use to help their children live independent, happy and full lives – which brought us to Missouri. Thank you Terri Jordan and her amazing family for their hospitality and for introducing us to Charting the LifeCourse. “The Charting the LifeCourse Framework was created by families to help individuals and families of all abilities and all ages develop a vision for a good life, think about what they need to know and do, identify how to find or develop supports, and discover what it takes to live the lives they want to live. Individuals and families may focus on their current situation and stage of life, but may also find it helpful to look ahead to think about life experiences that will help move them toward an inclusive, productive life in the future.” More to come about Charting the LifeCourse in 2021.
Connection
Every patient and their family has a unique story to tell about their rare disease journey. On average, it takes 7 grueling years for a family to receive a diagnosis. Families can feel defeated and isolated. Families can feel unheard and unseen. Finding a community can make all the difference on this rare disease journey. It is life-changing when someone understands your rare disease journey. Part of our mission is to foster connection and community for OCNDS families.
We identified 42 new OCNDS families from around the world, including New Zealand, France, Spain, the United Kingdom, the USA, Hong Kong, Portugal, Canada, Netherlands, Australia, India, and the UAE. People living with rare disease often face a diagnostic odyssey, typically waiting for years for a diagnosis and receiving multiple misdiagnoses along the way.
Volunteers are the lifeblood of our organization. We had 15 volunteers who generously donated their time. Our volunteers span the globe – from Italy to Texas to Los Angeles to Chicago to New York to San Francisco. Without our CSNK2A1 Foundation volunteer interpreters, we couldn’t have connected with our new families from around the globe.
In 2018, Dr. Wendy Chung and Dr. Volkan Okur provided our community with answers to the most common questions about OCNDS. From this, we created a printable one-page document containing the most common OCNDS questions to make it easy for families to share the information with friends, providers, teachers, and doctors. Since very little is known about OCNDS, this document serves as a lifeline to those living with OCNDS and their families. It helps patients and their families easily understand the diagnosis and provides recommendations for care. This year an OCNDS family from the UAE with the help of their treating physician translated the one-pager into Arabic. The one-pager is now available in 9 languages.
Partnership & Family Resources
Every year, we form more and more partnerships with other rare disease organizations. And we will continue to do so. Working together and sharing ideas will only help us achieve our mission faster and more efficiently. In 2020, we became members of four different organizations.
- IndoUSRare is a non-profit organization focused on accelerating therapies for rare diseases by building collaborative bridges between the USA and the Indian subcontinent for education, advocacy, & research.
- The Rare Epilepsy Network (REN). REN is a partnership between rare epilepsy organizations, the Epilepsy Foundation, Columbia University, and Research Triangle International to conduct research to improve outcomes of rare conditions associated with epilepsy and seizures .
- Canadian Organization for Rare Disorders (“CORD”). CORD is a Canadian non-profit organization dedicated to the enhancement of lives of all persons affected by rare disorders through an educational and informational support network.
- Cal Rare. They are dedicated to improving the lives of rare disease patients in California . They are a coalition of rare disease stakeholders with a goal to raise awareness among the general public and decision-makers regarding rare diseases.
Conclusion
“The best way to predict the future is to create it.” We aren’t leaving OCNDS to chance. We are tirelessly working towards a future in which we have a treatment or a cure for OCNDS. We are creating a future in which our children are not plagued with OCNDS symptoms. With your continued support, we are transforming hope into action.