Family Stories

Sibling Panel Summary | Saturday, July 19 | Connect + Collaborate Scientific & Family Conference

FOUNDATION OVERVIEW

By Terri Jordan There’s a moment parents like me don’t talk about enough—the moment after high school when the world seems to shrink for our children. Opportunities disappear. Programs end. And it feels like our kids “fall off a cliff” with nowhere to belong, expected to fade quietly into the background. It’s heartbreaking, and it’s real. But sometimes… You find a place where your child doesn’t fall off a cliff. They climb. They grow. They belong. And they remind you just how much is possible when someone believes in them. For us, that place is the local food bank distribution center. For over two years, one morning a week, this has been more than volunteer work—it has been a lifeline of purpose and possibility. My child has taken on tasks that many never imagined he could do.

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.

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.”