Family Stories

By Elizabeth McNamee My name is Elizabeth, and I live in Ireland. As a mom to a child with OCNDS, I’ve learned that sometimes the most powerful way to create change is to raise your voice. Advocacy wasn’t something I ever expected to do, but I knew if I wanted to see real improvements for families like mine, I had to step up. I began by reaching out to a councillor in my area for advice. I asked how I might get our issue brought into the government building for the upcoming budget. He suggested contacting the five sitting TDs (that’s what our parliamentarians are called here in Ireland) and asking them to raise a “topical issue.” Out of the five, two agreed to help. I chose to move forward with the one I had seen advocate strongly on previous issues. We spent a couple of days going back and forth on the details, and once he put in the request to bring the issue to the Dáil, it was approved. That same night, he raised OCNDS in the chamber. To my amazement, the Minister agreed that it should be considered in the context of the national budget. It all happened so fast, one minute I was drafting words at home, and the next, the halls of government were echoing with our concerns. For me, advocacy is about persistence, clarity, and knowing that even one person can move the needle when the cause is urgent and just. I chose advocacy because while we are also fundraising for the CSNK2A1 Foundation, we need answers now for Leo. Doctors here don’t seem too concerned about looking into his muscle issues because it isn’t a “noted” symptom of OCNDS, but when I speak to other mothers, they’ve seen exactly what I’m seeing in their children. We need to know why his muscles are deteriorating. We need answers for him and for every other child and adult suffering with OCNDS.

By Kirsten Kline I quickly realized that in the realm of raising a special needs child there is a game that must be played and it’s The Waiting Game. There are endless versions of this game, each with its own “exciting” challenges. A few versions that I have recently beta tested include: waiting for the doctor’s scheduling team to call you back; waiting on hold with the insurance company; waiting for approval from the insurance company; waiting for the appointment; waiting for the “doctor will see you now”; waiting for the test results; waiting for the meltdowns to subside; waiting for your child to hit that next milestone that we so desperately want them to reach; waiting for the bedtime reprieve after a long day of meltdowns and mishaps The list is endless. Each day you get to partake in a waiting game whether you want to play or not. They say that patience is a virtue and it’s one that I, admittedly, struggle with especially when it comes to getting my three year old son, KV, the services he needs and deserves. One of the more recent waiting games that I begrudgingly partook in was with KV’s therapist and insurance. Over the summer, my wife, Annie, and I attended the OCNDS Conference in Denver. While we were there we had the opportunity to sit down, one-on-one, with Dr. Okur and ask him all of our burning questions. One of our concerns was how could we help our non-verbal son find his “voice”. He told us to give him every outlet and option imaginable to communicate with us, this included the use of an Augmentative and Alternative Communication (AAC) Device. My wife and I were a little surprised by the AAC device suggestion. His speech therapist had been telling us to just wait, he wasn’t ready for the device. He hadn’t mastered the gentle touch of the iPad and would struggle with the AAC device. I mean, I didn’t think his therapist was wrong. I had sat in on his sessions. I had watched my son bang away at the iPad unable to navigate it, especially with the same ease and precision his peers seem to so effortlessly possess. So sure, I thought, maybe we should wait. However, armed with this new knowledge I received from Dr. Okur, I decided that this waiting game was over. The day after we returned from the Denver trip, KV had a therapy session, I marched in overflowing with new information that I had gleaned from the conference. I offloaded all of the information onto his therapist and requested we help KV acquire an AAC device. Turns out the waiting game I was playing was not over. Again, she said she thought he wasn’t ready. I took that as a “no” but over the following weeks continued to push for the AAC device. His therapist finally gave us some options to try to acquire the device, but all of the options came with just a “little” caveat. Because of insurance red tape we would have to wait six to eight months to receive the device. Beaten down and disheartened from playing this particular waiting game, I thought my energy levels were fully depleted and that this waiting game might be one that I never beat. Like all parents, there is some type of internal ether of life that we all eventually have to pull from to level up, replenish and to continue on our journey. Knowing that my son’s “voice” depended on my wife and I, I drew from this sacred ether within and found my second wind. “No!” I decided that six to eight months wasn’t a good enough answer. So I took matters into my own hands. One thing I have learned over the years while navigating this life with our son, is that the more you seem to talk about and put things out into the universe, that more often than not the right people seem to find you. After exhausting all of my options and spending countless hours on the phone with insurance, I finally, in passing, casually mentioned to my son’s BCBA therapist that we were struggling mightily to acquire an AAC device for KV. It turns out she had a solution and mentioned a company I had not heard of before. Upon arriving home that afternoon I contacted the company expecting to be shot down again. I was pleasantly surprised when we were approved the very same day. They said it would be shipped to our home within the next 5 business days. I waited anxiously for days, anticipating the usual Boss Character to pop out at the very last minute. You know the type, the fire-breathing Bowser, there to engage you in some epic battle, their one and only goal - to stop you from achieving your quest. The days slowly passed, to my shock and surprise the main Boss Character never arrived. No fire-breathing lizard came knocking on my door, instead *Ding* a notification - the AAC device has been delivered. This waiting game was over. I had beaten this quest. My son is now in his 90 day trial period with the device. It took him a few weeks to get acclimated but he finally got the hang of it. He is able to navigate the device and seemingly with ease. It turns out he had a lot to say and he knows what he wants and needs. My wife and I were shocked to learn that one of his favorite treats is bananas dipped in ketchup. He is constantly requesting this combo and downs this tasty treat with a big smile on his face. Our son is working so hard to learn all of the exciting things the AAC device has to offer him. He is now able to communicate simple requests and even tell us when he needs to go potty. The AAC device has given our son his “voice” and it is the most beautiful sound we have ever heard. As one waiting game comes to a close, I know another game will start very soon. My rest period will be over before I know it. I now realize that I will forever be a player in The Waiting Game. There are no winners or losers, just endless levels, some more challenging than others. Some with big victories and some that make you question if you even know how to play this game at all. At the end of the day I can say with 100% certainty that the wait is worth it! To see your child grow, develop and flourish from the services you have fought so hard to acquire for them is a victory like no other. So you know what, I take it back, there is a winner and that winner is our children!

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.