Terms of Use

TERMS OF USE

Last updated: 8 June 2018

Please read these Terms of Use (“Terms”, “Terms of Use”) carefully before using the website operated by CSNK2A1 Foundation (“us”, “we”, or “our”).


Your access to and use of the website is conditioned on your acceptance of and compliance with these Terms. These Terms apply to all visitors, users and others who access or use the website.


By accessing or using the website you agree to be bound by these Terms. If you disagree with any part of the terms, then you may not access the Website.

Disclaimer

The information provided is not intended to be a substitute for professional medical advice, diagnosis or treatment. Never disregard professional medical advice, or delay in seeking it, because of something you have read on this website. Never rely on information on this website in place of seeking professional medical advice. No images on this site may be used or reproduced without the written consent of CSNK2A1 Foundation. CSNK2A1 Foundation is a 501(c)(3) non-profit organization. EIN #82-4220939.

Termination

We may terminate or suspend access to our website immediately, without prior notice or liability, for any reason whatsoever, including without limitation if you breach the Terms.


All provisions of the Terms which by their nature should survive termination shall survive termination, including, without limitation, ownership provisions, warranty disclaimers, indemnity and limitations of liability.

Links to Other Websites

Our website may contain links to third-party web sites that are not owned or controlled by CSNK2A1 Foundation.


CSNK2A1 Foundation has no control over, and assumes no responsibility for, the content, privacy policies, or practices of any third-party websites. You further acknowledge and agree that CSNK2A1 Foundation shall not be responsible or liable, directly or indirectly, for any damage or loss caused or alleged to be caused by or in connection with use of or reliance on any such content, goods or websites available on or through any such websites.


We strongly advise you to read the terms and conditions and privacy policies of any third-party websites that you visit.

Governing Law

These Terms shall be governed and construed in accordance with the laws of the United States, without regard to its conflict of law provisions.


Our failure to enforce any right or provision of these Terms will not be considered a waiver of those rights. If any provision of these Terms is held to be invalid or unenforceable by a court, the remaining provisions of these Terms will remain in effect. These Terms constitute the entire agreement between us regarding our website, and supersede and replace any prior agreements


we might have between us regarding the website.

Changes

We reserve the right, at our sole discretion, to modify or replace these Terms at any time. If a revision is material, we will try to provide at least 30 days’ notice prior to any new terms taking effect. What constitutes a material change will be determined at our sole discretion.


By continuing to access or use our website after those revisions become effective, you agree to be bound by the revised terms. If you do not agree to the new terms, please stop using the website.

Contact us

If you have any questions about these Terms, please contact us at info@csnk2a1foundation.org

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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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