Nicki’s Journey to an OCNDS Diagnosis
By Aryana Adeline Valle-Portela
Nicki’s journey to an OCNDS diagnosis for her son, Silas, began the moment he was born. As the youngest of six children, Silas faced challenges early on, born prematurely after Nicki developed preeclampsia, he struggled with feeding and was soon diagnosed with hypotonia. Encouraged to seek early intervention, Nicki pursued evaluations that led to physical, occupational, and speech therapy. By the time Silas turned one, he was receiving eight hours of in-home therapy each week, but as he grew, his developmental delays became more pronounced.
Determined to find answers, Nicki embarked on a long journey of medical referrals, testing, and consultations with specialists. An MRI and microarray test revealed little, but the persistent gaps in Silas’ development signaled that something more was at play. In September, he was approved for Whole Exome Sequencing (WES), and within a month, the results confirmed an OCNDS diagnosis. The moment brought both relief, finally having an explanation, and worry, as Nicki grappled with the reality that Silas’ challenges were part of a lifelong condition.
Despite the emotional weight of the diagnosis, Nicki found solace in the CSNK2A1 Foundation. The community offered immediate connection and guidance, allowing her to learn from other parents navigating similar experiences. From medical advice to emotional support, the foundation became a lifeline, reinforcing that she wasn’t alone.
While Silas remains nonverbal, Nicki continues to advocate for his needs, confronting the unique challenges of OCNDS, particularly in communication. She hopes for greater awareness, research advancements, and more tailored support systems for families like hers. To those newly facing an OCNDS diagnosis, her message is clear: the diagnosis changes everything and nothing at the same time—your child is still the same, and with the right support, they will be okay.