By Hannah Curran, Editor
SPRINGVILLE — A Springville family is moving back into action and attending a conference in Maryland on August 4-7, 2022, to learn more about a rare disease that their 4-year-old daughter was diagnosed with in 2019.
Adelynn Cole was diagnosed with Okur-Chung Neurodevelopmental Syndrome (OCNDS), a rare genetic disorder first identified in 2016. OCNDS is caused by a mutation in the CSNK2A1 gene. The gene CSNK2A1 creates a protein called CK2, which plays a crucial role in development. Therefore, a mutation in this gene disrupts typical development.
Adelynn is the only reported case of OCNDS in Alabama, and there are fewer than 200 reported cases worldwide.
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“We’re excited to meet other families like ours for the first time face-to-face and learn more about the condition of the Okur-Chung,” Adelynn’s mother, Kelsey Cole, said. “It will also give Adelynn the opportunity to play with some kids that are like her. Dr. Chung is coming in from Columbia University, so we will actually get to meet one of the doctors.”
Kelsey said she hopes this conference will give them more insight into the disease because of its rarity, not much is known.
“The doctors in Alabama only know what they find on the internet or what we tell them,” Kelsey said. “So, I think actually going to the conference will give us more knowledge.”
Kelsey said that when they heard about the conference, they reached out and asked how they could attend. They were informed about a scholarship they could apply for to help pay for expenses during the trip.
“We applied and prayed about it and because if it’s meant for us to go, the funds will become available, and while we were waiting for an answer, we started fundraising for our own travel expenses,” Kelsey said.
David Cole, Adelynn’s father, explained they got the confirmation yesterday and that the foundation is paying for the family’s trip to Maryland. In addition, the Cole family participates in many fundraisers year-round for treatment options for Adelynn, and what they do not use goes back to the CSNK2A1 Foundation.
“One fundraiser we did we donated all the money back to the foundation for research purposes,” Kelsey said. “Hopefully one day, we’ll have a cure or some kind of medicine that helps.”
Jennifer Sills, CSNK2A1 Foundation president, said that every rare disease family has a unique story about their rare disease journey.
“On average, it takes seven grueling years for a family to receive a diagnosis,” Sills said. “OCNDS takes a toll on families financially, emotionally, spiritually, and mentally. Rare life can be challenging, isolating, and heartrending.”
Sills explained that finding a community can make all the difference on this rare disease journey.
“It is life-changing when someone understands your rare disease journey,” Sills said. “Part of our mission is to foster connection and community for OCNDS families. Covid has kept our OCNDS families apart for over two years. We are thrilled that OCNDS families have the opportunity to meet in person this summer at our family and scientific conference in Baltimore, Maryland. There is nothing that can replace an in-person gathering.”
It is incredibly powerful for families to know they are not alone and finally meet other children like their own.
“The Cole Family are active members of our community,” Sills said. “They host local fundraisers to fund life-altering research and bring awareness to OCNDS. Kelsey and David are part of a relentless parent community who are the driving force behind life-changing OCNDS rare disease research. There is great strength in numbers, and we can’t wait for our OCNDS families to be together this summer.”
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The CSNK2A1 Foundation is a nonprofit organization focused on finding a cure for OCNDS and ensuring affected individuals have the opportunities and support necessary for happy and full lives.
Adelynn’s father, David Cole, said that everyone diagnosed with OCNDS is affected differently; in Adelynn’s case, she can’t walk. David explained that when Adelynn was diagnosed, he discovered he also had the gene for OCNDS, but he never experienced any developmental difficulties growing up.
David hopes that Adelynn can overcome many of the boundaries she faces and learns to walk, and experiences a happy childhood. David said that Adelynn visits Alabama Pediatric Therapy in Rainbow City three times a week for therapy to fight OCNDS.
Last year, the Cole family participated in the Moving into Action for OCNDS which is a nationwide fundraiser. Participants can walk, run, or roll to help raise awareness for OCNDS sponsored by CSNK2A1 Foundation. This year while the foundation will not be hosting the Moving into Action fundraiser, the family hopes to hold their own fundraiser in Springville.
Getting out and doing something for Adelynn is just one way the community can get involved and help make a difference in the lives of those affected by OCNDS.
Kelsey said that finally getting to go to the conference is emotional because it means they are not alone in the fight.
“It’s pretty tearful because you finally are laying eyes on people that research for you daily through Simons Searchlight, and then you finally get to meet the person that has been there for you, to meet the other families, and the doctor that founded it,” Kelsey said. “It’s just incredible that after two and a half years of calls, we actually are getting back to our conferences, and hopefully, we come back with more knowledge for the community and ourselves. It’s very powerful to be able to attend the conference and get together with other families like ours.”
To donate or find a way to help raise awareness about OCNDS, visit www.csnk2a1foundation.org/donate/ and join the fight against OCNDS.