Jules’ Story

By: Parent of Jules, a 12 year old with a CSNK2A1 genetic change

“You aren’t alone. There is a community who is eager to connect with you. There is hope. Science is catching up.”

What is your family like?

We are known as the Sills Zoo. At anytime, anything can happen and will happen. We have learned to expect anything and everything and to pack lots of paper towels!

What do you do for fun?

We love being together as a family – hosting parties, traveling, seeking out adventure, cooking, and cuddling with our dogs and cats.

Tell us about the biggest hardship you face.

The biggest hardships are the day-to-day challenges and the unknown. We feel like we are in uncharted territory with very few resources to guide our decisions. However, it has been a blessing to find a like community to learn from their experiences and share ideas.

What motivates you to participate in research? How has participating in research been helpful for you?

This is an ultra rare condition affecting less than 200 individuals worldwide. We must work together to learn more about OCNDS [Okur-Chung Neurodevelopmental Syndrome]. This is a group effort. We are trying to give our daughter every opportunity possible. We feel by participating in research we are helping the community learn more about OCNDS and in turn helping our daughter live her best life possible.

What is one question you wish researchers could answer about this genetic change?

We hope research yields the following answers: is this reversible or is there a treatment that will allow our sweet Jules to access her voice and talk.

What have you learned about your or your child’s genetic condition from other families?

We have learned that OCNDS symptoms vary from mild to severe. No one individual is the same. However, although our symptoms can be vastly different, our journeys are strikingly similar. There is solace in knowing we aren’t alone.

If you could give one piece of advice to someone recently diagnosed with this genetic change, what would it be?

You aren’t alone. There is a community who is eager to connect with you. There is hope. Science is catching up. Our community is made up of strong advocates. 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. I encourage everyone to be part of this driving force and participate in the Simons Searchlight Natural History study. It will lay the groundwork for treatment. It will also increase the awareness of the OCNDS in the medical community so it will naturally improve the medical care those with OCNDS receive.