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Q3 | September 2021 | IN THE LOOP

Jennifer Sills • Oct 07, 2021
In The Loop
Move Into Action Fun Run Walk Roll

On October 16th & 17th, our global OCNDS community will MOVE INTO ACTION for our OCNDS Run, Walk & Roll Fundraiser! This event will help raise awareness and fund research for OCNDS. We set a goal of $10,000. We surpassed our goal and raised over $18,000. Thank you to everyone who donated and for the donations that are continuing to come in! A special thank you to everyone who created a Facebook fundraiser including Team Brady, Team Kind Cordelia, Team Ellie, Michelle Proctor-Simms, Team Rockin’ Robin, Équipe Éden Romeo, Friends of Cody, Team Kirsty, Team Runnin’ with Rowan, Team Jules Rules, Abilgaile Firth, Jules’ Journey, Quinn Niess, Matilda’s fundraiser for OCNDS, Team Samuel, and Team Happy Harper.


It isn’t too late to participate. And guess what? You don’t need to run to participate. This is called a run, walk, or roll. Our goal is for you to safely come together with others to bring awareness to OCNDS. Invite some friends and family to join you to Move Into Action TOGETHER for OCNDS. You can meet at the park, your street corner, the beach, or anywhere - get out of the house and move! You can RUN. You can WALK. You can ROLL whether on a bike, wheelchair, walker, scooter, roller skates, or rollerblades. 


How will you move into action? We can’t wait to see all the creative ways people move into action. Share your Move Into Action photos & videos with us!  Remember to tag us in your social media posts! 


Videos from our virtual annual conference are NOW available!

2021 Family Research Conference

Over 3 days in July and August, OCNDS families, friends, and researchers came together virtually for our annual family conference. Thank you to our partner, Simons Searchlight, for organizing an incredibly informative virtual conference.


We had an overwhelming response to the virtual conference. PAB member Elisabeth Mellinger said, “my favorite session was the one where Dr. Dominguez, Dr. Rebholz, and Dr. Okur talked about research that is happening and how CK2 works in the body.” OCNDS Parent Penelope Gatlin mentioned that her second favorite was Understanding Problem Behaviors in Neurodevelopmental Disorders. Which one was your favorite?


If you didn’t have a chance to tune in live, Simons Searchlight has you covered. Here is a link to the recorded sessions.


For non-English speakers who would like to watch the conference videos on YouTube, there is a closed captioning and language selection on the YouTube video itself. In the YouTube video, you first enable cc (closed captioning) and second use the gear button (Settings) to select your language. Here is a video in English to show you how to enable closed captioning in your native language.


Number of Families Found Q3

Worldwide OCNDS map

In the third quarter of 2021, we found 13 new families spanning the globe: USA, Australia, England, Sweden, Taiwan, Ireland, and Poland. Thank you to our volunteer interpreters who helped us connect with some of the new families this quarter.


100 Game-Changing OCNDS Families - OCNDS Clinical Care Guidelines

100 Game Chaning Families Challenge

Will You Be A Game-Changing OCNDS Family?


Dr. Wendy Chung and Dr. Volkan Okur first identified Okur-Chung Neurodevelopmental Syndrome (OCNDS) in 2016. Most physicians and providers have never heard of OCNDS. When someone is diagnosed with OCNDS, there are no clinical care guidelines for physicians.


What are clinical care guidelines? Clinical care guidelines are recommendations on how to diagnose and treat a medical condition such as OCNDS. Clinical care guidelines are meant to help ensure that patients receive appropriate treatment and care. Currently, care varies wildly from patient to patient without these guidelines.


WE CAN CHANGE THIS! Watch Dr. Chung's Challenge to our community that will lead to the establishment of Clinical Care Guidelines for our community.


Steps to Become a Game-Changing Family 

  • Sign up for Simons Searchlight www.simonssearchlight.org


  • Upload the genetic report of loved one with OCNDS to Simons Searchlight


  • If you don’t have the genetic report, no problem. You can sign a consent form and Simons Searchlight will get the report for you.


  • Schedule your medical history phone interview


  • Complete your medical history phone interview


*Languages supported: English, Spanish & French (other languages coming soon)

EDUCATION

Education

Continued Q&A Session Recording Now Available

Continued Q&A Family Research Conference

We weren’t able to answer all the questions asked in the first Q&A session after the virtual conference. On September 26th, Dr. Wendy Chung, Dr. Volkan Okur, Dr. Heike Rebholz, and Dr. Isabel Dominguez joined us for an additional Question & Answer session to finish the questions asked during the initial conference Q&A. If you weren’t able to attend live, you can watch the video here.

Q&A with Dr. Cora Taylor

Q&A with Dr. Cora Taylor

Attend the live Q&A with Dr. Cora Taylor on Friday, October 15 at 12noon ET/USA. She will answer your questions about education and early intervention, diagnosing autism, sleep, feeding, toileting, and behavioral interventions for people with autism or other neurodevelopmental conditions such as OCNDS.

You can submit your questions ahead of time by emailing them to coordinator@simonssearchlight.org

AWARENESS

Rare Disease Awareness

Awareness is the key to acceptance.
We are grateful for all the different ways our community brings awareness to OCNDS.

In August, our very own Parent Advisory Board member, Terri Jordan, was in the news for changing thousands of lives through her cooking program called The Color-Coded Chef which fosters independence through cooking! Way to go, Terri!

Color Coded Chef

To learn more about The Color-Coded Chef visit: https://www.thecolorcodedchef.com/


In September, our President, Jennifer Sills, had the pleasure of being interviewed by Wordly COO, Kirk Hendrickson, regarding the unique challenges our foundation faces in removing barriers for our families to participate in our events (webinars, Q&A sessions, monthly family meetings). It was wonderful to share our story and shine a light on rare disease and the OCNDS community in a non-rare disease space. We continuously strive to make sure that all our families can share their stories and learn from each other. We are grateful for affordable platforms that help us extend our reach and accelerate our mission.

Wordly

#MilestoneMondays

Each Monday join us on social media to celebrate #MilestoneMondays. We highlight an individual living with OCNDS and celebrate a milestone that they have achieved. Those living with OCNDS have many daily challenges. Some challenges are as basic as swallowing, toileting, dressing, putting on a seatbelt, and making friends. Individuals with OCNDS have to work harder than the average person to reach the smallest of milestones.

We celebrate Elyis! Elyis is a very happy 17-month-old! His mom shared: "He spends his days trying to keep up with his two older brothers! At 6-months-old he started weekly PT because he couldn't even hold his head up yet. Now he is trying to free stand!" Way to go, Elyis!

#RareDiseaseTruth

The Jansen's Foundation started #RareDiseaseTruth. Rare disease truths - something often not talked about because we try to remain hopeful and positive. Every Thursday, we share truths from our community.

#RareDiseaseTruth

"When our daughter was born her neurologist didn't know if she would survive. We were told to buy life insurance now to cover costs. Her doctor said he was out of ideas about what was going on and why. That if we ever figured out what was wrong, we were free to call him back and let him know. He told us good luck..."


Rare disease families shouldn't have to rely on luck. They deserve collaborative medical partners on this journey.

#DidYouKnow

Did You Know?

Did you know that our PAB developed an OCNDS/CSNK2A1 Foundation brochure to help families on this journey? This brochure can be shared with your family, friends, teachers, providers, and clinicians to learn more about OCNDS. Please view and share our new brochure far and wide. Thank you to our PAB for creating this helpful tool for our community.

RESEARCH UPDATES AND OPPORTUNITIES

Research

Young Scientists Taking An Interest in OCNDS

Young Scientists Taking An Interest in OCNDS

Kamawela Leka (Kami) was awarded $250 for being one of the top 10 posters out of the 45 posters for their work on CSNK2A1 that were presented during the Annual TGen HELIOS Scholar Symposium on August 3 at the Hyatt Regency Phoenix. Congratulations, Kami! They are a senior at Arizona State University pursuing dual degrees in Biomedical Engineering through the School of Biologic and Fulton Schools of Engineering. They are also working as a Research Intern at the Center for Rare Childhood Disorders (C4RCD), Neurogenomics Division at TGen. They are currently working on undergraduate thesis work under the guidance of Dr. Rangasamy and Dr. Narayanan, focused on understanding the molecular mechanisms of OCNDS using cell and zebrafish models. We love seeing young scientists taking an interest in OCNDS & CSNK2A1 research! Thank you, Kami, for your outstanding work!

Young Scientists Taking An Interest in OCNDS

Simons Searchlight Registry Infographic


Have you ever wondered, “how many children with OCNDS have seizures or low muscle tone or suffer from chronic severe constipation?” Every 3 months, Simons Searchlight publishes a registry report that includes answers to questions just like these. Click HERE to view the most current registry report on Simons Searchlight CSNK2A1/OCNDS participants. If you want to be included in future reports, join Simons Searchlight today! Data presented in this report is gathered from families signed up for Simons Searchlight and who have completed the medical history phone call.

Deletions in CSNK2A1

Dr. Okur and Dr. Chung are conducting a study on gene deletion (partial or whole gene) variants in OCNDS. If your child was found to have a deletion in the CSNK2A1 gene and if you are interested, you may contact Dr. Okur at vokur7@gmail.com to learn more about study details. If you are unsure if your child has a deletion on CSNK2A1 gene, please contact us at jennifer@csnk2a1foundation.org and we will help you read your genetic report.

Q3 Scientific Roundtable

CSNK2A1 Foundation hosts a quarterly Scientific Roundtable to bring together diverse researchers, clinicians, and innovators from around the globe to exchange ideas and accelerate the path towards treatment for OCNDS. These roundtables play a vital role in setting our OCNDS research agenda.


On July 20th, our Scientific Advisory Board and 2 board members hosted 6 institutions and 12 foundation-funded researchers to hear research updates and to discuss next steps. We were thrilled to hear how our researchers are successfully sharing data and collaborating together. We are looking forward to our next roundtable on December 1st.


For information or inquiries about our Quarterly Scientific Roundtable, please email at research@csnk2a1foundation.org

FAMILIES CONNECTING

Our Parent Advisory Board hosts monthly family Zoom calls. Families across the globe join. We use Wordly to provide live caption translation so ALL families can participate regardless of their native language. Everyone in our community benefits from more perspectives, more allies, and more hope! On these calls, we share the successes and challenges of OCNDS. We discuss everything OCNDS including toileting, hearing loss, anxiety, behavior, toileting, sleeping, and many other issues our loved ones face when living with OCNDS. These calls serve as a lifeline for many families struggling with basic daily activities.


We also have families connect via region or country through WhatsApp or Facebook Messenger to talk more specifically about issues that are specific to their geographic area. If you haven’t joined our smaller WhatsApp or Messenger groups, please contact Jennifer at jennifer@csnk2a1foundation.org and we can direct you to the appropriate group.


August Family OCNDS Zoom Call

August Family OCNDS Zoom Call

September OCNDS Family Zoom Call

September OCNDS Family Zoom Call

Mark Your Calendar

Calendar

Behavioral Intervention Webinar with Dr. Cora Taylor October 15

Move Into Action Run, Walk or Roll Fundraiser October 16 & 17

Monthly OCNDS Family Zoom Calls

   October 23

   November 20

   December 18

Giving Tuesday Fundraiser November 30

Q4 Quarterly Scientific Roundtable December 1



How To Get Involved

How to get involved

As you are navigating this diagnosis, there are steps you can take to get informed, connected, and make an impact today! Visit our website to learn more.


One of the easiest ways to help bring awareness to OCNDS is by sharing our content across social media. One easy way to get involved is to “like” our Facebook page and ask your friends to “like'' our page. Follow us on Twitter, Instagram, and Linkedin.


Have special skills or talents and would like to donate your time? There are many volunteer opportunities available at the Foundation. Email us at volunteer@csnk2a1foundation.org to get involved.


Friends, family, and providers can join our closed Facebook group to share ideas and learn more about OCNDS. Join now.

FAQS RESOURCES REGISTER DONATE
Newborn Genetic Screenings

The Power of Newborn Genetic Screenings: How Newborn Genetic Screenings Can Change the Diagnosis

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

Why I Should Have Gotten the Autism Diagnosis for My Child Early On (or Why I Did Not)

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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