Understanding
Okur-Chung Neurodevelopmental Syndrome
From Diagnosis to Advocacy: Claire’s Story & the Power of Community
By Aryana Adeline Valle-Portela
Parent, Claire Whitehill's Journey (UK)
Claire’s journey with her youngest daughter Kirsty, who was diagnosed with OCNDS, is a testament to perseverance and the power of community. From the beginning, Claire noticed developmental delays in Kirsty, such as not walking or talking on time and difficulty eating. Born prematurely, Kirsty was referred to a pediatrician at one year old, beginning a series of tests to identify potential syndromes. Initial genetic tests revealed no answers, but Claire’s determination led to a referral to a geneticist. In 2016, Kirsty was enrolled in the 100k Genome Project, and three years later, Claire received the diagnosis of OCNDS. The news brought relief, but also uncertainty due to the condition’s rarity and lack of resources.
Kirsty’s challenges include profound learning disabilities, delayed speech, and small physical stature, leaving her developmentally behind her peers. Finding suitable educational resources has been particularly difficult, as many programs are unable to accommodate Kirsty’s unique needs. These gaps have forced Claire to become an advocate, working tirelessly to secure appropriate support for her daughter.
The CSNK2A1 Foundation became a lifeline for Claire. From the moment she discovered the foundation, she felt less isolated. She joined the parent advisory board and engaged in monthly Zoom calls with families who shared similar experiences. Through resources like blogs, webinars, and clinician videos, Claire gained practical knowledge to navigate Kirsty’s education and medical challenges. The foundation also provided invaluable strategies for developing education plans, helping Claire address systemic barriers in the UK.
Claire has taken her advocacy further, becoming the regional ambassador for the UK and serving on national health panels. She has shared her story widely, raising awareness about OCNDS and advocating for better support and research. Inspired by the foundation’s leadership and community, Claire remains dedicated to helping other families feel welcomed and supported as they navigate similar challenges.