Family Stories
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.
By Aryana Adeline Valle-Portela Terri’s journey to an OCNDS diagnosis for her son Cody was long and challenging, taking 16 years of persistence and advocacy. From the start, Cody displayed developmental delays and health challenges. He struggled to swallow, a condition so severe that medical professionals were unsure whether he would survive without a feeding tube. Instead of giving up, Terri worked tirelessly to teach him how to swallow. Cody’s milestones came much later than expected—he began crawling at 2.5 years old, walking at 3.5, and talking at age 9 after years of using a communication device and American Sign Language. Throughout these years, Terri and her family were navigating uncharted territory, searching for answers to Cody’s symptoms while grappling with the daily demands of his care. They underwent three different genetic tests with no clear results, leaving them in a frustrating state of limbo. The uncertainty was emotionally taxing, as they had to address each symptom individually without the guidance of a cohesive diagnosis. Despite setbacks, Terri sought out various therapies to help Cody develop—speech therapy, music therapy, horse therapy, and more—while also adapting his school environment to meet his needs.
By Amber Reynolds One of the things I’ve learned as a parent raising a child with Okur-Chung Neurodevelopmental Syndrome (OCNDS) is that joy and grief often live side by side. There are moments when I’m bursting with pride over Harper’s growth and happiness, and then there are times when my heart quietly aches for the milestones and experiences that may never come. As Harper has entered high school, I’ve found myself facing new stages of this journey. Recently, homecoming season arrived. My social media feeds filled with pictures of teenagers holding cute posters, smiling, and saying “yes” to being someone’s date. I loved seeing those moments for my friends and their children, it truly made me smile, but it also stung. Deep down, I knew that Harper would likely never have that traditional “homecoming ask.”
By Carley Faith Callahan Okur-Chung Neurodevelopmental Development Syndrome, also known as OCNDS, is a rare genetic disorder that brings a unique set of challenges to the children diagnosed with it and their families. These challenges can look like speech impairment, delay in brain development, and physical movement abilities. It might be easy for you and I in this room can do a situp, but their brains might not connect, making it harder for them to complete this task. This can span over a lifetime, impacting development, learning, and behaviour. While OCNDS is rare, this does not mean it is not important to research and help find a solution. Having a kid with OCNDS can be overwhelming, but also very rewarding at the same time. Children with OCNDS often require a more needing approach when it comes to care, including many different doctors, speech therapists, occupational therapists, physical therapists, and behavioural therapists. Accessing these specialised services can be financially tough for some, especially when considering the frequency needed to maximise a child's full potential. Funding can directly eliminate these financial burdens, ensuring that families can afford the necessary therapies and medical care without facing financial hardship.
By Aryana Adeline Valle-Portela When Michelle’s daughter, Claire, was diagnosed with OCNDS at the age of 10 through the Care for Rare research study, it was both a relief and a challenge. After years of uncertainty, the diagnosis provided answers, but it also introduced new obstacles—managing behavioral issues, finding effective treatments, and adjusting to a new reality. However, Michelle found solace and strength in the CSNK2A1 Foundation, where she connected with other families navigating similar experiences. Motivated by the support and knowledge she gained, Michelle became an active member of the foundation. She joined the Parent Advisory Board in 2020, just two years after Claire’s diagnosis, eager to give back to the community that had been a lifeline for her own family. Her involvement quickly deepened as she embraced opportunities to support other parents, share resources, and foster a sense of belonging for those new to the OCNDS journey.
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.
Written by Aryana Adeline Valle-Portela from her interview with Jacquie Lopez Reflecting on her journey, Jacquie described the difficult and prolonged journey to an OCNDS diagnosis for her daughter Madison Rose Solar. From the start, her daughter exhibited signs that something was different, but years passed before they received a clear answer. Each year brought new challenges, from the difficulties of finding informed clinicians to the overwhelming responsibility of daily care with limited resources. A definitive diagnosis didn’t come until age 12, leaving the family in a state of prolonged uncertainty and frustration. The absence of answers and support left them feeling isolated as they navigated the complexities of raising a child with an undiagnosed condition. For Jacquie, the most valuable lesson learned through her journey with Madison's OCNDS diagnosis was the importance of support. The CSNK2A1 Foundation’s sense of community and unity has been a lifeline for her family. What started as a small and isolated community became a family, with members who shared their experiences and provided invaluable knowledge. This personalized support has been a blessing, allowing families to come together and navigate challenges in ways they never could have on their own. Jacquie described the foundation as a source of existential support, where every member is both knowledgeable and empathetic. Her connection with the foundation has given her the strength to continue fighting for her daughter’s future, with renewed hope for the growth of research and a potential cure for OCNDS.
By Amber Reynolds Today, we celebrate and honor all the incredible individuals living with rare diseases, including our amazing Harper. Harper was born with an ultra-rare syndrome, Okur-Chung Neurodevelopmental Syndrome (OCNDS) . She is 1 in 300 in the world diagnosed with this condition—a true gem among us. But what makes her truly rare goes far beyond her diagnosis. Harper is a light in this world, seeing life through her own beautiful, rose-colored glasses. She is pure joy wrapped in sass and smiles. Harper doesn’t just live life—she embraces it with courage and a spirit for adventure: She skis with fearless determination. She’s always on the move—never sitting down, ready to conquer whatever comes next. She loves her friends deeply, sharing moments of laughter and connection. Baths? They’re her ultimate happy place! She is empathetic, athletic, and absolutely unstoppable. Harper doesn’t watch TV or movies—she’s too busy soaking in life and showing the world what true happiness looks like. Her energy, love, and unstoppable spirit remind us every day that rare is beautiful. To Harper and the entire rare disease community: today, we see you, honor you, and stand with you. #RareDiseaseDay #OCNDS #RareIsBeautiful
Rare Disease Day 2025 By Keri Ninness Our beloved boy with a rare disease will be 13 this year. It’s been 9 years since I fell to the floor of our preschool bathroom during a call from Emory genetics. That first mystery was solved, yet so many lay lurking, usually presenting right when we feel we have a good handle on things. Those early years were consumed with accessing every therapy and resource available. We spent hours in the car each week and tens of thousands of dollars on doctors, specialists, physical, occupational, speech, and behavioral therapy. Thomas’s younger siblings learned to crawl on therapy waiting room floors. After 11 years, Thomas has graduated from all therapies. He defied what that first (unkind, pessimistic, short sighted…) developmental pediatrician predicted. He did, in fact, learn to walk, talk, jump, learn. And he did so much more. Thomas learned to ride a bike. He learned to swim. He learned to run and play flag football and basketball and frisbee golf. He learned to play ping pong and memorize Spanish vocabulary words and knows every part and detail of the Mass in our Catholic faith. He just made A/B honor roll in 6th grade. He has made friends who knock on our door for him to play and knows more about college football and major league baseball than most adults. Those who walk alongside our family know that he has very, very hard days. Out of respect for him, I won’t elaborate on what hard looks like. But suffice it to say, it is a hard that no one would ever wish for their child or their family. He suffers. We suffer. Rare disease is unrelenting, unpredictable. Many days it is undeniable agony. And yet. If choosing Thomas means choosing Okur-Chung Neurodevelopmental Syndrome, we choose it every, single minute. He asked me one day if I wished he didn’t have OCNDS and was surprised when I said I did not wish this hard, hard disease away. Because the day I saw that child learn to swim after YEARS of him playing on the side of the pool while his same age peers played sharks and minnows in the deep end? That day I watched a miracle. And the day he finally stepped off the curb of First Presbyterian Weekday school after insisting on practicing every day for years? another miracle. And watching him walk across a stage today earning honor roll in 6th grade- two of those grades being in honors level classes? Miracle. People go lifetimes never having the honor and privilege to witness even one. Our family watches them over and over and over again. These precious, innocent, wanted, valued, beloved children miraculously climb invisible mountains every day. To the families and caregivers, maybe your miracle was a first word after years of speech therapy. Maybe it was your child making their first real friend. Maybe it was a day without horrible dysregulation or a medical event. Maybe it was the look in their eyes as you put them to sleep that let you know they see all your work and all your fears and all your silently shed tears. There is so much hard to navigating life for and with a child with rare disease. But there are also constant miracles, glimmers of hope and joy. Noticing those, honoring those, will be the fuel you need to help your babe and your family climb that next mountain. You are doing SUCH a good work fighting for them, with them, and yes, sometimes even against them. Your child is a miracle, but so are you. To the doctors and scientists studying the CSNK2A1 gene, thank you for using your gifts to help our son. Please keep learning. To the members of the CSNK2A1 foundation, we are endlessly grateful for your tireless commitment and perseverance in this fight. To the PTs, OTs, SLPs, special education teachers and mainstream teachers who put in extra work for our son, you are the real heroes in our story. To Mary Kate, Timothy, Elizabeth and Baby David, your love for your brother and resulting compassion for others is my life’s joy to see. To Ross, your constant pursuit of your son’s heart is your most attractive quality. And to Thomas. OCNDS is a miniscule part of you. We acknowledge it on rare disease day and will treat you to chick-fil-a fries. But then we go back to living life. You’ll take out the recycling and read your brother a bedtime story and bore us at the dinner table with stats on University of South Carolina defensive ends. Besides wanting you to put your 18th pair of crocs in the actual shoe bin, we don’t wish for a single thing different. Our life with you is a gift and a joy. Thank you for fighting battles we can’t even see every day. You are a miracle.