Newsletter Q1 March 31, 2021

Join us on social media April 5th for International OCNDS Awareness Day.

Why did we choose April 5th for our annual awareness day? On April 5, 2016, 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. Families searching for years finally had an answer, a diagnosis for the symptoms that plagued their loved one. Today, more than 160 individuals have been diagnosed with OCNDS.

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.

Someone once said that “Nothing about Rare Disease is simple – not the diagnosis, not the daily care, not the long term.” On April 5th, we ask you to Stand with Us on this journey. To Stand with Us, wear green or blue and tag us in your photos.

Final Total of Giving Tuesday

Rare Disease Day takes place on the last day of February each year. This year it fell on Sunday, February 28, 2021. The main objective of the campaign is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. The zebra is the official symbol of rare diseases in the United States and is noted for its black and white stripes, which are central to its uniqueness. Everyone has his/her own stripes, those characteristics that make each individual distinct. While each of the more than 7,000 rare diseases are unique, there are many commonalities that unite patients, families, caregivers and supporters. On 2/28, we united with over 300 million people worldwide living with a rare disease to work towards more equitable access to diagnosis, treatment, care and social opportunity.

A few families in our community shared their thoughts on what it means to be rare on Rare Disease Day. Read more below.

REFLECTION OF OCNDS PARENT ON RARE DISEASE DAY 2021 by Claire Whitehill

NOTRE PETIT SOLEIL by Aurélie

I RUFF SOMEONE RARE by Melanie Kretas / artwork by Ava

DAYS by Rhiannon Cramer

LOVE NEEDS NO WORDS by Amber Reynolds

Rare Disease Day Celebrations

On February 28, 2021, we hosted a Rare Disease Day 2021 Event with The Color-Coded Chef. Terri Jordan, founder of The Color-Coded Chef guided us through her amazing adapted Chocolate Chip Cookie recipe. Terri developed The Color-Coded Chef Kit which promotes life skills for all ages & abilities through the power of cooking. This unique system emphasizes visual communication. The carefully designed interface removes many of the traditional barriers of cooking. From the UK to Hawaii, families joined in the fun! A portion of the proceeds of the sale of the Color-Coded Chef cooking kit will be donated to CSNK2A1 Foundation if you use the code: OCNDS or CSNK2A1 Foundation.

Our PAB member, Amber Reynolds, created a new product line for her Rare Disease Day fundraiser “Love Needs No Words!” She raised over $1600 from her t-shirts sales. The “Love Needs No Words” product line is now available in our items shop and all the net proceeds are donated to OCNDS research. We loved seeing people all over the world wearing their shirts on Rare Disease Day.

Zoom Family Calls



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. Finding a community can make all the difference in a rare disease journey. During these unprecedented times of COVID, it is even more important to stay connected. To keep our families connected, our PAB hosts quarterly Zoom calls to discuss a variety of topics ranging from epilepsy management to puberty to transitioning into adulthood. These calls serve as a lifeline for many families struggling with basic daily activities. Look out for our next call April 24th where PAB member Michelle Proctor-Simms will host a OCNDS family discussion about epilepsy and management.

Quarterly Science Roundtable

CSNK2A1 Foundation hosts a quarterly Scientific Roundtable to bring together researchers, clinicians and innovators to exchange ideas and accelerate the path towards treatment for OCNDS.

In February, we launched our Quarterly Scientific Roundtable. Our Scientific Advisory Board and 2 board members hosted 5 institutions and 7 foundation funded researchers to hear research updates and to discuss next steps. These roundtables play a vital role in setting our OCNDS research agenda. We are looking forward to our next roundtable on April 13th.

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

Parent Education Webinar Series

In late 2020, we launched 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. We are excited for our next webinar on April 1st about Alternative Communication approaches and strategies. We anticipate that this will be a well-attended event since inability to speak or severe speech delay is one of the hallmark symptoms of OCNDS. Caregivers and parents are always looking for ways to ease the frustration of those living with OCNDS and increase their ability to communicate their needs, wants, hopes and dreams.

#MondayMilestones Spotlight

Join us each Monday on social media when we celebrate #MilestoneMondays. We will 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 themselves, putting on a seatbelt, and making friends. Individuals with OCNDS have to work harder than the average person to reach the smallest of milestones.

“Harper was diagnosed with OCNDS at 5 years old. She didn’t crawl until 14 months. She has always been delayed in every milestone. She works so hard to do simple tasks her peers can easily do without thinking about it. She reminds us to never give up! We celebrate every milestone because it is a reminder of how hard she has worked to get here. COVID-19 restrictions have given us more time to work on skills. And for the first time ever, Harper learned to ride a bike without training wheels at 8 years old. She loves riding her bike, and now does tricks, riding with one hand going up and down ramps and over curbs.”

Did You Know?

“What happens in adulthood for those living with OCNDS?”

“How many individuals with OCNDS have autism or autism behavior traits?”

“What is the average age that someone with OCNDS speaks?”

“How many individuals with OCNDS have epilepsy?”

“What do they do to manage their epilepsy?”

April 1st: Alternative Communication 101 Parent Education Webinar Events Details & Registration

April 5th: International OCNDS Awareness Day (Wear Green or Blue & Stand With Us)

April 13th: Q2 Scientific Roundtable

April 15th: Australia/New Zealand Family Zoom Meet Up

April 17th: Simons Searchlight research registration Zoom party, details to follow

April 24th: Quarterly Family Zoom Call – Topic: Epilepsy and Management

Jul/Aug: Save the Date coming – Simons Searchlight Virtual CSNK2A1 Family Conference