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2018 Year in Review

Jennifer Sills • Mar 11, 2019

2018 YEAR IN REVIEW


One year ago on Rare Disease Day, we launched the official website for CSNK2A1 Foundation (the “Foundation”). The Foundation just celebrated its first year! We made tremendous progress in our inaugural year. Here are a few things this young organization accomplished in its opening year!


We started to fund a robust Okur-Chung Neurodevelopmental Syndrome (“OCNDS”) clinical research program. It is the first of its kind. As a part of that program, we are developing animal models which include mice and cell lines with mutations in the CSNK2A1 gene that mimic those mutations in individuals affected by OCNDS. Eventually, our researchers will be able to test therapeutics on animal models that will give us a better understanding of the syndrome and will help us develop treatments for those affected by OCNDS.


We began working with Simons Searchlight who is conducting an OCNDS natural history study. Through our patients participating in the Simons Searchlight study, we will improve our community’s understanding of OCNDS. To learn more about Simons Searchlight visit https://www.simonssearchlight.org.


We partnered with the Translational Genomics Research Institute (TGen), to build a CSNK2A1 research program at its Center For Rare Childhood Disorders. TGen is an Arizona-based nonprofit medical research institute dedicated to conducting groundbreaking research with life-changing results. TGen joined the City of Hope system in November 2016. City of Hope provides a significant clinical setting to advance scientific discoveries made by TGen. To learn more about TGen visit http://www.tgen.org.


In addition, in August 2018, over 70 people, including families, researchers and doctors from around the world, descended upon New Jersey for our first family conference. Participants met other children and families affected by OCNDS. It was the first time they were meeting someone like them. It was incredibly powerful for them to know that they are not alone. Patient and family blood samples are critical for rare disease research and we were able to get blood samples from many participants at the conference, which are being used to make cell lines.


We traveled to the United Kingdom and the Netherlands to meet families affected by OCNDS. There we met with exceptional doctors who are committed to helping OCNDS patients and their families.


We also traveled to Chicago to learn from another rare disease organization. Living true to the Global Genes’ Thrive motto “together we can do more than we can alone”, Dup15a Alliance Executive Director Vanessa Vogel-Farley invited us to see how an established rare disease organization runs its operations and prioritizes its patient community needs. We learned a tremendous amount as we set the goals for our Foundation for the next few years.


We have connected with 23 new patients from around the world. Some patients waited 21 years for a diagnosis. Without the CSNK2A1 Foundation volunteers, who donated their time to help interpret calls, we couldn’t have connected with our families in Korea, Italy and France.


We are excited for 2019. Already in 2019, we launched our first Rare Disease Day awareness project in which Tere Casas, a well-known artist from Mexico, donated her time to help youth in our local community come together to paint about community, acceptance, inclusion, and love. We also hosted a celebration on Rare Disease Day with over 100 people in attendance to bring awareness to OCNDS.


We have our first major fundraising event rapidly approaching. On April 22, 2019, we are hosting Drive for Diagnosis 2019 Golf Classic at El Caballero Country Club in Tarzana, California. Sign up before spots sell out at www.csnk2a1foundation.org/golf-classic.


We have another trip to the Netherlands, United Kingdom, France and Italy planned for late April. We can’t wait to connect with families in those countries.


Upon diagnosis, our families are told that there are no cures or treatments for OCNDS. We are changing this with your help. With your support, we are transforming hope into action.


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Newborn Genetic Screenings
By Penelope Gatlin 05 Oct, 2023
By Penelope Gatlin October 2023 When our son was born in 2012, he was hypotonic, severely jaundiced, had feeding difficulties and features such as epicanthic folds and small low set ears. We were told immediately that doctors had suspicions of a genetic syndrome. At that time, genetic testing was limited and once abnormal karyotype, Trisomy 21, and Fragile X were ruled out, we left the hospital with an 8 day old and no diagnosis. While no testing was available at that time to identify the ultra-rare syndrome my child had, because it wouldn’t even be identified until 4 years later, I can only imagine the difference it would have made to our journey to have such an answer sooner. Instead, we were unprepared and actually unaware that just because a diagnosis hadn’t been made then that it didn’t mean there wasn’t in fact a rare disease present. Instead, we dealt with issues as they came and worried and wondered what would be next. From feeding issues and reflux and constipation, to low muscle tone and delayed walking, to speech delay, social and emotional delays, toileting delays, diagnoses of developmental delay, anxiety, situational mutism, sensory processing disorder, and autism, until finally genetic testing that revealed the diagnosis that we’d waited 7 years to find out. While receiving a diagnosis can seem scary, not having an answer but knowing there must be one is even more so. In 2019, the day I clicked onto the portal to see the test results, the largest word on the page was POSITIVE. My heart stopped for a second. For the first time, I read the words “Okur-Chung Neurodevelopmental Disorder.” A roller coaster of emotions ensued, including sadness that we hadn’t known this from birth because it would have made us as parents more prepared, and given us more understanding about what might arise next. Relief that we had an answer, grateful that this syndrome had been identified and that he was among one of the first hundred diagnosed with it in the world, and glad we had the privilege to have access to the testing. Excitement that we can participate in future research. Fright that there’s so much we don’t know about OCNDS, and happiness that there is something that we do. A feeling that we are no longer shooting in the dark and have a small but supportive community to rely on and learn from. I am hopeful that one day, all newborns with features like my child will be tested at birth, so parents can have access to the answers, support, and interventions and therapies that can best help their child as soon as possible.
Autism Diagnosis
By Terri Jordan 23 Aug, 2023
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.
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