Our Voice

By Penelope Gatlin

For 16 years, my child displayed numerous symptoms that left us searching for answers, but a genetic diagnosis remained elusive. I considered having my child evaluated for autism to shed light on their situation. However, when I reached out to teachers, doctors, and therapists, I received frustrating responses: “Your child is too friendly to be autistic.” This statement made me doubt the possibility of autism because my child was sociable. “Your child can transition from one activity to another – they are not autistic.” Hearing this, I questioned whether my child’s ability to shift activities invalidated the need for an autism evaluation. “Your child can look me in the eye and answer questions – they are not autistic.” Observations like this made me second-guess the idea of autism, even though my child faced various challenges. “Getting a diagnosis that does not apply to your child would be a big waste of money.” Despite my persistent concerns, this cautionary advice about the evaluation costs left me hesitant. We finally pursued an evaluation when my son turned 20, and it confirmed that he is indeed on the autism spectrum (severe side). Looking back, I regret not taking this step sooner. I should have pursued the autism diagnosis before we received the genetic diagnosis. There are several benefits we could have gained as a family if we had pursued an early diagnosis: “Early Support Is Crucial:” I now realize that early intervention could profoundly impact my child’s development. We could have accessed the right services and therapies much earlier with a diagnosis. “Understanding My Child Better:” I struggled to comprehend my child’s behaviors and communication difficulties. An earlier diagnosis could have provided insights into their unique needs and thought processes. The education could also help me explain how to react to my child’s behavior to family members. “Tailored Guidance and Resources:” A diagnosis could have opened doors to specialized resources and guidance, enabling me to provide the best possible support for my child. “Connecting with Others:” Being part of the autism community might have connected us with other parents who understand our experiences. Sharing and learning from each other could have been invaluable. “Planning for the Future:” Knowing more about my child’s strengths and challenges could have helped me better plan their future, including education, career, and overall well-being. Depending on your location, many states offer funding and support if your child has an autism diagnosis. I wish I listened to my voice instead of being swayed by experts who didn’t fully understand my child’s situation. Ultimately, I know this decision is significant, requiring careful consideration by parents. Looking back, I wish I had trusted my instincts and sought an evaluation sooner to improve my child’s life.

Probably Genetic is a group of geneticists, engineers, and patients seeking to help people with rare diseases access genetic testing. The company has recently launched a no-cost genetic testing program for people with seizures or developmental delay-related disorders. Eligible individuals can receive whole exome sequencing at no cost. This testing analyzes all of the protein-coding regions of your DNA for disease-causing mutations. Eligibility To participate, candidates must reside in the United States. Eligibility for the program is determined by a brief, easy-to-understand online quiz. Care partners, friends, or family members are encouraged to submit on behalf of their loved one if their loved one cannot complete the Symptom Checker without assistance. How it works Go to the Symptom Checker website on any internet-connected device. Answer the questions in their entirety. It should only take 5-10 minutes. The Probably Genetic team will thoroughly evaluate your Symptom Checker response to assess your eligibility. This typically occurs within one to two weeks. If you are eligible, you can claim your test, and the lab will send a kit right to your door. Collect a saliva sample and ship it back in the pre-paid box. We can also assist you in scheduling a USPS pick-up. Results are available in 6 to 8 weeks. This test shows all disease-causing mutations related to your reported symptoms, even those that are not seizure-related. If genetic testing is offered, you will have access to post-test genetic counseling with a board-certified genetic counselor. The genetic counseling sessions are virtual and are included at no cost to ensure you can make informed decisions and understand the results. View the status of your Symptom Checker submission and/or test kit through the patient portal. You can download a PDF copy of your genetic report, as well as a file containing your raw genetic data. Take the Symptom Checker Here: https://www.csnk2a1foundation.org/genetic-symptom-checker  The Probably Genetic team is always open to feedback so the program is as successful as possible for this community!

Today on National Sibling Day, we shine a spotlight on our rare siblings. Growing up with a brother or sister with complex healthcare needs has unique benefits and challenges. Rare siblings live uniquely complicated childhoods. Whether bringing a friend home and worrying about a sister’s embarrassing behaviors, or wishing for a brother able to play baseball with them, they are always facing situations many of their peers don’t face. Having a sibling with disabilities or special healthcare needs is a complex experience but can also be rewarding. Some siblings feel their place in the family gives them an understanding of difference, diversity, and helping others. Other siblings do not feel this connection and might struggle with these differences.

2023 Rare Disease Day Reflection By Amber Reynolds When I look at snowflakes, I notice how beautiful they are.... all so unique, and all so different. Different shapes, different sizes, fluffy ones, tiny ones, intricate ones, to simple ones. A snowflake is unique because its shape evolves as it journeys through the air; no two will ever be the same. Even two flakes floating side by side will each be blown through different levels of humidity and vapor to create a shape that is truly unique. Harper and her syndrome, Okur-Chung Neurodevelopmental Syndrome, remind me a lot of a snowflake. When considering uniqueness, not only is Harper unique and not like any other child I have ever met, but she is also just as unique to other children who also have Okur-Chung Neurodevelopmental Syndrome. Right now there are only 200 kids IN THE WORLD, who have Harper's syndrome caused by a mutation in the CSNK2A1 gene. Harper is rare, Harper is unique! My little snowflake loves shiny objects, candy, she bounces and skips around-hence her nickname, hippity hop, she loves speed and thrills, her heart is full of love and she's so caring for others, she uses a communication device to talk, she is scared of hand dryers in restrooms, she is stubborn and strong-willed, she has trouble falling asleep at night, she is in the 6th grade but can't read or write, she stems by flapping her hands when she's excited, she loves outdoor adventures like hiking and skiing, she loves her friends, her smile is infectious, and she's pure JOY to be around! Harper is rare, Harper is unique! The CSNK2A1 community continues to evolve as others share acceptance and awareness. So just as a snowflake, Harper will continue to evolve, be unique, and beautiful. ❄️❄️❄️�55358;�56589;�55358;�56589;�55358;�56589;❄️❄️❄️ #beunique #uniqueasasnowflake #rare #raresyndromeday #csnk2a1 #okurchungneurodevelopmentalsyndrome

Receiving an OCNDS diagnosis can be overwhelming and heartrending . Our Parent Advisory Board (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.

Today is International OCNDS Awareness Day . On April 5, 2016, lives were changed forever. On this day, 5 years ago, the first paper was published describing a brand-new syndrome called Okur-Chung Neurodevelopmental Syndrome, also known as OCNDS. Initially, there were 5 children identified in the paper with OCNDS. Soon these 5 children would be joined by others around the world. Behind every rare disease diagnosis there is a family with big dreams and hopes. Someone once said that "Nothing about Rare Disease is simple - not the diagnosis, not the daily care, not the long term." OCNDS takes a toll on families financially, emotionally, spiritually and mentally. Currently, when someone receives an OCNDS diagnosis they are told there is no treatment or cure. This is changing. OCNDS families are not only taking a seat at the table, providing real-life perspectives that are helping to shape the development of new treatments and therapies, they are the DRIVING FORCE behind OCNDS rare disease research. To date, with your generosity and support, we have committed over $400,000 to life-changing OCNDS research. Today , we ask you to Stand with Us on this journey. Today , Stand With Us by watching this video about individuals living with OCNDS Today , Stand With Us by using your voice and sharing this video with your friends and family.

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 an Alliance Foundation, we have the opportunity to collaborate and exchange best practices with other rare disease organizations to drive better outcomes for the rare disease community. Global Genes profiled our President, Jennifer Sills and the CSNK2A1 Foundation. Read the entire article here . Learn more about Global Genes at www.globalgenes.org

We are excited to launch our Parent Education Webinar Series. As parents and patients 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 different types of interventions available. Our first webinar is about Music Therapy . Thank you to Kristin Moulder of MidWest Music Therapy 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 look out for our quarterly release of the Parent Education Webinar Series.

SHARING IS CARING! There are so many ways to share the love of giving to help us find a cure and make a meaningful change in the lives of individuals affected by OCNDS. Did you know that you can donate your birthday by creating a Facebook fundraiser? It is as easy as one click to make a difference. Click below to start your FACEBOOK birthday fundraiser: https://www.facebook.com/fund/csnk2a1/ Thank you to our donors who have donated their birthdays to help us turn hope into action!

Last week our President, Jennifer Sills, shared her daughter Jules’ story at the California Rare Disease Caucus at which assembly members were present. Thank you to CAL RARE and Angela Ramirez Holmes for giving her the opportunity to share how COVID is affecting those with rare disease. The hearing video is on their website: www.calrare.org You can hear our president at around minute 21. Here is an excerpt from her testimony:

Founder and President, Jennifer Sills, talks with Tammie Bennett from the Show Up Society Podcast about her family’s journey with OCNDS and starting CSNK2A1 Foundation. We thank Tammie Bennett for “showing up” for our OCNDS community and bringing awareness to this ultra rare genetic syndrome.

Dear Donors, Supporters, and Friends, Today would have been our 2nd annual Drive for Diagnosis Golf Classic at El Caballero Country Club. We want to thank you for your continued and generous support. We remain committed to funding neurodevelopmental research that impacts not only the lives of those with Okur-Chung Neurodevelopmental Syndrome but possibly those with Parkinson’s, Alzheimer’s, Cancer and Autism. Please watch this brief message from Dr. Vinodh Narayanan, Medical Director for TGen’s Center for Rare Childhood Disorders to hear about the progress made possible by your generous contributions! We are profoundly grateful for your support. Thank you for helping us turn hope into action. We wish you and your family good health. Looking forward to seeing you again soon! Warmly, Jennifer Sills & Micheal Kaplan, Jr. Co-Chairs of the Drive for Diagnosis Golf Classic

We are thrilled to announce we are working on new initiatives for the OCNDS community. We are forming our inaugural Parent Advisory Board. We are looking for caregivers or parents who want to get more involved. This is an exciting opportunity for parents or caregivers of an OCNDS patient to make a difference in the lives of those affected by OCNDS. Parent Advisory Board will advise our Board of Directors, brainstorm ideas and share insights from the parent perspective related to OCNDS. Commitment : For inaugural group, 1 year commitment with one year option to extend Meeting Virtual Calls - 1 hour per month 5 hours a month minimum for PAB projects Two 2-hour virtual trainings (spread out between two months) Applications are due May 15, 2020.

We are pleased to announce our first OCNDS Awareness Day Save the Date for April 5, 2020 for our Take 5 Campaign and learn more about OCNDS and why we chose this day.  #ocnds #hopeintoaction #ocndsawareness #csnk2a1 #weareyou

Each genetic variant is important! In order to be represented in research, you must participate in research! Answer the call to action and sign up for the CSNK2A1 natural history study . We highly encourage our community to register with Simons Searchlight to participate in the Simons Searchlight long-term natural history study. By participating in the Simons Searchlight study, we can improve our community’s understanding of OCNDS.

I had the honor and privilege of interviewing most of the families that were in Good Days, Bad Days, Rare Days . 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 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. In the early days, there were lots of tears surrounding Jules’ diagnosis. Jules has Okur-Chung Neurodevelopmental Syndrome (“OCNDS”). Individuals with OCNDS are prone to speech delay or the inability to speak, epilepsy, global developmental delay, autism spectrum disorder traits, structural abnormalities in the brain, difficulty feeding and much more. To date, there are over a 100 cases worldwide. These days I don’t cry much. This life is a new normal. I channel my grief, fear and tears into working tirelessly to help other families with OCNDS feel less alone and to fund research to cure OCNDS. However, after I had the privilege of speaking to these amazing humans, I went to my car and I did the “Oprah ugly cry” because this journey, it is hard. There’s no other eloquent way to say it. There are many moments in which you can literally feel your heart breaking. Your lowest of low is to see your child in agony and pain, and there’s nothing you can do about it. In those moments, you try to remind yourself that life is made up of small, tiny moments. You tell yourself, “you will get through it” and “this moment will end and you will see a smile on her face again.” But, when you see your child in so much pain and agony, one second seems like a lifetime. It feels like it is never going to end and that you are alone. I hope when you watch DeFabio’s film that you see yourself in others’ stories and you feel less alone. There are over 300 million people who feel like you do. I also hope you give yourself a moment to cry and then a moment to reflect on what an incredible advocate you are, and what a badass human you are! There are people who know what you are going through. We are stronger together; WE ARE YOU. Thank you Daniel DeFabio for this beautiful reminder that we are NOT alone! #weareyou #ocnds #strongertogether #HopeIntoAction #boschboonstraschaafopticatrophysyndrome #epidermolysisbullosa #ichthyosis #dyskinesia #syngap1 #menkesdisease #cu29 #ADCY5 #disorder

“Hope cannot be a passive concept. It’s a choice and a force; hoping for something takes more than casting out a wish to the universe and waiting for it to occur. Hope should inspire action.” – Dr. David Fajgenbaum, Chasing My Cure

It was a warm and sunny day on Monday April 22, 2019 in Tarzana, California. It was a perfect day for golf! We had a tremendous turn out for the Drive for Diagnosis Golf Classic at El Caballero Country Club . 113 Golfers came out for our 1st Golf Classic to support our collaborative efforts with TGen’s Center for Rare Childhood Disorders to diagnose and cure Okur-Chung Neurodevelopmental Syndrome. Golfers traveled from as far away as Hawaii and New York to Drive for Diagnosis! Golfers enjoyed a morning massage from Be Mobile Massage , breakfast burritos from Low Key Burritos , a very competitive chipping contest and swag from a pop-up Titleist / Footjoy shop. On course, Mike’s Hard Lemonade stand and Jet 60 ’s margarita machine together with Jersey Mike’s Subs kept our golfers happy and satiated. No one had a hole in one but the field was quite competitive and posted some low scores. We closed the evening enjoying Wente wines, some heavy appetizers, awards presentation and closing remarks. Mellisa and the Charity Angels helped us raise over $62,000 on the day of the golf tournament. Our first fundraising event was a huge success. We raised $284,603 . We are grateful to our Co-Chairs Jennifer Sills and Michael Kaplan, Jr. for their leadership. Our shining stars, our golf committee, worked tirelessly on this event. Thank you to Liz Kaplan, J. Michael Grossman, Joey Behrstock, Mike Grossman, and Avisha Patel for your dedication, support and hard work. The event wouldn’t have been possible without our Volunteers! Volunteers make the world go round! Some of our volunteers even flew in from San Francisco to help make the golf classic a huge success. A special thank you to Avisha Patel, Catherine Landers, Cindy Cooney, Denise Grossman, Ellen Rann, Gen Garcia, Jasper Sills, Jenna Rosenbloom, Jennifer Bravo, Katie Grossman, Lee Sandusky, Michelle Meyerhoff, Mona Pine, Susan McHugh, Teri Handelman, Tracy Phelps and Venessa Montanez . Thank you to our Title Sponsor , Performance Team , for leading the way to a record-breaking fundraiser. We are incredibly grateful to our major sponsors for their support and generosity: The Dorrance Family Foundation , Allen & Anita Kohl Charitable Foundation, David & Amanda Lebowitz Family Foundation, Andy & Ashley Lebowitz Family Foundation, Pinnacle Contracting Corporation , The Karsh Family Foundation and Joan & Charlie Davis . Funds raised from this event will go to support CSNK2A1 Foundation’s mission and to building a CSNK2A1 Foundation Research Program at TGen. This tournament provided an incredible opportunity to bring awareness to individuals who have never heard of Okur-Chung Neurodevelopmental Syndrome and to introduce our golfers to the groundbreaking work TGen Foundation is doing in the field of genomic research. With our donors’ support, we are turning Hope Into Action . Stay tuned for details about our next tournament.

For Direct Link to YouTube Video, click here Led by the talented and inspirational artist, Tere Casas, adults and children painted what makes them happy and what community means to them . Tere Casas created a short but powerful video of the extraordinary process. Thank you, Tere, for using art to bring us together! CSNK2A1 Foundation sends a heartfelt thank you to all those that participated.

Tere Casas is a celebrated and well known artist from Mexico whose work has been showcased around the world . She is an exceptional artist with a huge heart. For Rare Disease Day, she donated her time to show how art can bring a community together. Kids from our Bay Area community transformed a blank canvas into a beautiful, energetic and meaningful piece with her guidance and encouragement. They were told to paint – what makes them happy, what love means to them and what community stands for. Rare Disease Day brings awareness to communities that are small in number who are often isolated and highlights issues that affect them. You can see as the piece began it felt lonely and small. Once the community came together the images are jumping off the canvas. It is exploding with energy illustrating we are stronger together. We are truly grateful to Tere for donating endless hours to this project and giving our community this experience. Thank you, Tere, for providing a safe space for us to experience love, inclusion, kindness, happiness and hope. And thank you for giving our community a chance to learn more about rare disease. To learn more about Tere Casas visit http://www.terecasas.com/

We walked into the 1st CSNK2A1 Foundation Family Conference as strangers and we finished the weekend as lifelong friends . We now have friends (more like new family) that we can call on at anytime who will understand our excitement when our child hits a milestone, or will understand when its been a tough day with challenging behaviors, or will understand the feeling of fear when thinking about the future or just understands what it is like to have a child that has a rare genetic disorder. We departed stronger than we were when we arrived. We left each other more hopeful. We left the conference armed with more knowledge about this new syndrome so we can be better advocates for our children. And as we hugged goodbye smiling with tears streaming down our face, we made plans to see each other in the near future.

EVERY DAY I HOPE YOU FEEL LOVED, SEEN, ACCEPTED AND PART OF A COMMUNITY. This was the first time our family, together with our community, celebrated Rare Disease Day . We celebrated in honor of our daughter, Juliet, who has Okur-Chung Neurodevelopmental Syndrome (“OCNDS”), an ultra rare genetic disorder. This celebration documented our huge shift as a family to how we approach our sweet Jules’ rare genetic disorder. I remember when Jules was 18 months old and we were seeking answers. My husband and I were devastated by her initial diagnosis of being on the autism spectrum. The realization that our child was different and her road in life would be filled with many speed bumps and unexpected detours was heartbreaking. Being a first time parent was overwhelming enough without incorporating a team of specialists and a new scientific lexicon into our lives. As I reflect back on the early years, I think about the tears and the heartache. I responded to the initial diagnosis by taking charge of Jules’ early intervention team, Team Jules Rules, like a Fortune 500 CEO . At the peak, we had 16 providers working under our roof. We encouraged co-treatment, collaboration and teamwork. We held quarterly meetings with detailed agendas and reports. Some days I felt so overwhelmed with managingTeam Jules Rules, I could barely breathe. During those times, I never imagined we would be throwing a party tocelebrate a rare genetic syndrome. Times have changed and science has caught up with Jules. Whole Exome Sequencing recently revealed that she has OCNDS. Our first Rare Disease celebration wouldn’t have happened without the help of our community. For years, it was difficult for us to accept friends’ offers of support because we didn’t know what we needed or how to say yes. The first step was embracing the importance of saying yes by accepting their help in planning our first Rare Disease celebration. This event taught us that we can’t do it alone and more importantly we don’t have to . (Thank you to my tribe, you know who you are!) Together with our community, we didn’t plan any ol’ celebration. The next morning our yard looked like the kid version of “The Hangover”. This was a celebration that would bring acceptance, awareness, community, collaboration, hope and a renewed faith in humanity. At our Rare Disease Day celebration, our friends mentioned they didn’t know what to expect when they arrived. Would this be a sad event? They wondered if you could celebrate a “rare disease”. Our celebration gave everyone an opportunity to ask questions that they were once too shy to ask or didn’t know to ask . The celebration provided a safe space to ask about Jules’ differences. For example, why doesn’t Jules talk or why does she jargon so loud? Why does she crinkle her fingers by her face when she is smiling? Will she ever talk? Does she understand what we are saying to her? Can she read? I was able to tell them that I didn’t know the answers to all their questions. Unfortunately, the OCNDS community knows very little about the syndrome. However, we are determined to find answers. Earlier this year, we formed CSNK2A1 Foundation to fund research to unlock the mysteries of OCNDS. Rare Disease Day was especially important for our neurotypical 7-year-old son, Jasper . Jasper loves Jules very much. He worries about her. He worries she may never talk. He frequently asks how she will live on her own as an adult. He doesn’t know how to share her differences with others. Rare Disease Day gave him an opportunity to put his worries aside and celebrate Jules as she is. He wore our foundation t-shirt, CSNK2A1 Foundation, to school. His friends and teachers asked him about it. He proudly responded that his sister has a rare genetic disorder that makes it difficult to talk*. He had such a positive day; he wants to do it again! Jasper was able to talk about his sister in away he never could before. He felt accepted and heard. That t-shirt represents hope that the foundation can find treatments to alleviate her symptoms. He has hope that being an adult can be easier for Jules and others with OCNDS. Word spread throughout our community that we had this event. Our friends and neighbors used the event as an opportunity to ask us questions about Jules’ condition and our corresponding foundation. People don’t often know how to ask or start a conversation. Rare Disease Day opened opportunities for all of us to learn . I even received several calls from families to ask about starting her their own foundations for the rare genetic disorders that have unexpectedly become a part of their lives. It is impossible to get Jules to smile for pictures. But, on this day, there seemed to be a huge shift for Jules. As we were taking the group photo, I whispered to her, “Everyone is here for you – to celebrate you. We all love you so much.” She hugged me tightly and smiled brightly. I never expected her smile to be caught on camera. To my surprise, in every group photo she has a huge smile. In every single picture she beams with happiness. She can’t tell me how she was feeling at that moment. But I hope she felt accepted. I hope she felt loved. I hope she felt seen. I hope she felt part of our community. This is what any mom wants for her child . Now that the party has ended and Rare Disease Day has past, the real work begins: making sure she has the opportunity to feel this way every day and not just on Rare Disease Day. But don’t worry we are already planning next year’s party. Back to work!

Learning and Advocacy for Our Children For parents of children with rare diseases, we are in a constant state of learning. We experience the joy of learning about this amazing new baby in our lives. We learn our child has differences from other children. We learn about those differences through a clinical diagnosis that we struggle to associate with our child. Sometimes our instincts tell us the diagnosis isn’t accurate. Now rapidly changing science validates many of our parental instincts with a more accurate diagnosis. We want more families searching for answers and a diagnosis to take advantage of this new science. Our Road to Diagnosis – Twice My husband and I have watched our nine-year old Jules grow into a happy, spicy, adventurous, clever, and cuddly little girl. She is a lover of all animals, relentless, a budding chef, strategically naughty and constantly moving. But while the average nine year old has a vocabulary of 7000 words, Jules has a vocabulary of about 200 words. At 15 months old, Jason and I began to be concerned. Jules stopped making eye contact. No words were coming. Like so many proud parents, we have video of our 9 month old. You can hear our comments in the background, “Wow, look at how much she jargons. She is going to be an early talker.” But we were wrong. Words never came- just more complex, louder jargon. We made an appointment to see a developmental pediatrician and many other specialists. By age two, Juliet was diagnosed with Pervasive Developmental Disorder – Not Otherwise Specified (“PDD-NOS”) which is on the autism spectrum. We entered a new ecosystem of new doctors, specialists and terminology. In 2010, we took advantage of the genetic testing that was available at the time. We built a robust team of therapists providing 25 hours a week of early intervention in our home. We joined a local community of parents whose children had also received an autism diagnosis. But we noticed our Jules was presenting differently from these children as well. For so many with autism, routines are key. Often children on the spectrum prefer quiet places and predictable environments. But for Jules, louder is better; the more activity in her surroundings the better. She loves to travel. She loves to go on airplanes. She loves the circus, Disney on Ice and Monster Jam. Advocacy and Trusting Your Instincts We noticed these differences and continued to press the medical experts for better answers. Meanwhile “Whole Exome Sequencing” (WES) became available to us locally at UCSF. We brought Jules to see what we could learn from this powerful new genomic technique. Since 2010 and Jules initial diagnosis of PDD-NOS, the field of genetics has grown with new discoveries all of the time. But in July 2016, came the discovery we were waiting to hear. Dr. Wendy Chung and Dr. Volkan Okur from Chung Lab at Columbia University identified a de novo genetic mutation of the CSNK2A1 gene on Chromosome 20 causing Okur-Chung Neurodevelopmental Syndrome (OCNDS). Not long after with a simple blood test, UCSF was able to narrow Jules’ diagnosis from PDD-NOS to the more accurate OCNDS. There are 3 billion letters that make up the human genome. One very important letter on Jules’ dominant CSNK2A1 gene was misexpressed causing OCNDS. Generally, we are each born with 40-60 mutations. The body typically reads over the “mistakes”. However, this particular gene is believed to be so important that one misexpression is catastrophic to typical neurodevelopment. After I received the second diagnosis, I cried. I cried because we had an ANSWER . We had a described genetic syndrome that matched Jules’ symptoms. I cried from RELIEF . For years I had wondered what I did to cause Jules’ condition? Everyone tells you that it isn’t your fault. But I always wondered if I should have done something differently during pregnancy? Should I have had one less beer in college? It was a relief to know I could not have prevented this from happening. I cried because we had a COMMUNITY . However small, we had a like community of parents and children who were on a similar journey. I cried because I had HOPE . I emailed Dr. Chung immediately to talk about what we could do to further OCNDS research and how we could best support individuals with OCNDS. During our first call, Dr. Chung was responsive, kind, compassionate, and thoughtful. She suggested we form a nonprofit organization for our community. And we did. In January of this year, we answered our call to action and launched CSNK2A1 Foundation to focus on finding a cure for OCNDS and ensuring affected individuals have the opportunities and supports necessary to live full and happy lives. Dr. Chung and Dr. Okur serve on our Scientific Advisory Board and have been instrumental in advising our Board of Directors on our scientific objectives for 2018-2020. This is an exciting time for genetics and rare disease research. With Crispr and many other scientific advances, we have a chance to cure OCNDS. And until we do, through research and collaboration we can develop a standard of care for those with OCNDS. In addition, there is a possibility we could discover drug therapies to alleviate OCNDS symptoms. We want children with OCNDS to live their best lives. We believe an accurate diagnosis is the first step of many. By sharing our family’s journey, our hope is that someone who has an autism spectrum diagnosis that was once or is non-verbal/minimally verbal considers speaking with their doctor about Whole Exome Sequencing. WES is responsible for identifying many genetic conditions causing autism. Not everyone with OCNDS will be diagnosed with autism. But it is possible that there are other individuals like Jules out there. Families and individuals, like us, looking for answers, relief, community and hope.

2/28 is Rare Disease Day We are officially Friends of Rare Disease Day . We are having our first event to celebrate Rare Disease Day and bring awareness to OCNDS in California.