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Welcome! We found each other. FINALLY!
Some of us have waited years for a diagnosis – a name to describe the condition that has affected our children, a name of a disorder that has silenced many of our children’s voices.
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OCNDS)
Now, finally, we can build our community. We are no longer alone searching in the late hours of the night, typing into a web search different symptoms that affect our children to find something, anything to give a name to what they are experiencing. We are no longer alone. We have each other. Our children are no longer alone. They have other children waiting to meet them that are just like them. We will be each other’s best teachers and best listeners.
We have come together to build this community to support our families and bring funding to new research. We welcome your stories and suggestions to create the kind of support community that will serve a wide range of families throughout the world.
SIGN UP TO OUR CONTACT REGISTRY
Registering with CSNK2A1 Foundation will help to keep you up-to-date on the latest information regarding OCNDS.
Contact Registrants will be informed about opportunities to participate in research. You will also receive family meeting announcements, special mailings, and information regarding any discoveries about OCNDS impacting care decisions.
What is Okur-Chung Neurodevelopmental Syndrome?
What is Okur-Chung Neurodevelopmental Syndrome?
Okur-Chung Neurodevelopmental Syndrome (OCNDS) (OMIM # 617062) is a rare genetic disorder first identified in 2016. Everyone with OCNDS has some degree of developmental delay and/or differences in brain function.
How many patients are diagnosed with OCNDS?
More than 120 patients worldwide have been diagnosed with OCNDS so far. This number is expected to increase with increasing utilization of WES in other regions of the world.
What causes OCNDS?
OCNDS is caused by heterozygous mutations in the CSNK2A1 gene on chromosome 20.
What type of mutations are seen in OCNDS?
Both missense, splice site, and whole or partial gene deletion mutations occur in OCNDS. We do not yet know if the severity of the clinical findings is correlated with different mutation types.
How is OCNDS inherited? Is there any recurrence risk?
CSNK2A1 mutations are de novo mutations or are new in the individual with OCNDS and are not present in either parent. The risk for parents to have another child with OCNDS in a future pregnancy is ~ 1% because there is a small chance that one of the parents has additional egg or sperm cells with the CSNK2A1 mutation. If an individual with OCNDS has children, there is a 50% risk of passing on the CSNK2A1 mutation to their children.
Is there any gender bias?
OCNDS affects both males and females.
What are the symptoms of OCNDS?
The most common symptoms of OCNDS are below. We are still determining how frequently these occur and at what ages they commonly occur or resolve.
• Speech delay/inability to speak
• Global developmental delay (GDD)
• Learning disabilities, autism spectrum disorder traits
• Behavioral challenges such as tantrums, hand flapping, other stereotypic movements
• Feeding difficulties starting from birth.
• Reflux (heartburn), constipation
• Neurologic problems such as low muscle tone (hypotonia), clumsy movements, small head (microcephaly), epilepsy (seizures)
• Minor infections of the ears and lung
• Crooked (misaligned) teeth and cavities
• Hypermobility, Hernias, Hip dysplasia
• Vision issues such as strabismus, near/far sightedness, astigmatism
• Minor skeletal deformations in vertebrae
• Structural abnormalities in the brain
Is there a cure or treatment for OCNDS?
There is not a definitive cure for OCNDS yet; however, specific measures should be taken for associated findings:
• Speech therapy including assistive communication starting at 12 months of age
• Intellectual and behavioral assessments with appropriate educational support
• Physical and occupational therapy
• Monitor growth and use of G-tubes if there are persistent feeding issues
• Evaluate vision, teeth, immune system function
How can I reach out to other families? Is there a disease organization?
How can I learn about the future studies?
You can contact the researchers Dr. Wendy Chung and Dr. Volkan Okur on the following website at www.csnk2a1gene.com
Written by: Dr. Wendy Chung and Dr. Volkan Okur
CLICK A LINK ↓ TO DOWNLOAD A PDF OF COMMON QUESTIONS TO SHARE WITH YOUR PROVIDERS, TEACHERS, FAMILY, FRIENDS, AND DOCTORS.
YOU FINALLY HAVE A DIAGNOSIS!
HERE ARE STEPS TO TAKE NOW.
We know this is an overwhelming time. It is difficult to know where to begin. As you are navigating this new diagnosis, here are steps you can take to get informed, connected and make an impact today!
- Stay up-to-date on the latest OCNDS news by joining our Contact Registry. You will need to know your genetic diagnosis in order to complete registration. Here is a video on how to read your genetic report. If you have difficulty, we can help you.
- Connect with other OCNDS families by joining the private Facebook group.
- Help researchers & our community better understand OCNDS by registering with Simons Searchlight for the OCNDS long term natural history study.
- Help raise awareness, follow us on Facebook & Instagram.
- Educate yourself and others and distribute the What is Okur-Chung Neurodevelopmental Syndrome - CSNK2A1 Foundation information page to your family, doctors, friends, teachers, and service providers.
- Become informed and watch our conference, informational, research update, and awareness Videos.
- Feel less alone and read our Blogs which feature stories about our journey and stories from our OCNDS community.
- Visit Faces of OCNDS to see children like yours. If you would like to share your child’s photo for the Faces of OCNDS, please fill out and sign the consent form and submit the form and photos to firstname.lastname@example.org
- View the Worldwide Cases of OCNDS Map in which you will discover that our syndrome spans the globe.
- Check for any upcoming events.
- Give hope to others in the OCNDS community by writing about your own OCNDS journey to be featured on our blog called Stories From Our Community. Submit your story to email@example.com
- Invest in a cure by donating or holding a fundraiser or purchasing CSNK2A1 Foundation merchandise to support meaningful OCNDS research.