Family Stories

I was invited to speak because I serve on the Genomics England Participant Panel. The Panel advises Genomics England on decisions relating to the data held within the National Genomics Research Library (NGRL), ensuring that the interests of patients and research participants remain at the heart of decision-making. We help researchers and scientists understand what life is really like for families living with rare conditions and remind them what matters most to the people behind the data. I was eligible to join the Panel because my husband, our daughter Kirsty and I all had our genomes sequenced as part of the 100,000 Genomes Project. That project ultimately led to Kirsty receiving her OCNDS diagnosis in 2019. Joining the Panel felt like a way to give something back to the organisation that finally gave our family answers after years of uncertainty. It also allows me to ensure that scientists never lose sight of the fact that behind every genomic data point is a real person, a real child and a real family. Our lived experiences deserve a voice in the decisions that affect research participants and future patients.

Discover a heartfelt story of connection and belonging as two teens with Okur-Chung Neurodevelopmental Syndrome form a meaningful friendship.

By Amber Reynolds A diagnosis doesn’t change a child, but it changes a family’s ability to hope, to plan, and to move forward. Families deserve that chance. My name is Amber Reynolds . I am a Colorado mom, educator, and rare disease advocate. My daughter Harper has Okur-Chung Neurodevelopmental Syndrome , an ultra-rare genetic condition caused by a mutation in the CSNK2A1 gene . Before we had genetic testing, we had no answers. I knew something was different about Harper from an early age, but no one could tell me why. As a mother, that uncertainty was devastating. I blamed myself. I questioned every decision I had ever made. I spent years wondering what I did wrong, why my child was struggling, and what her future would look like without a diagnosis to guide us. Our diagnosis came late, not because we were not seeking help, but because genetic testing was not easily accessible and was not covered the way it should have been. That delay cost us time, time for early intervention, time for the right supports, and time to participate in research that could help Harper and others like her. When we finally received Harper’s diagnosis, everything changed. I found answers to the “why.” I found language for what our family was experiencing. I found a community of families walking the same road. And where there had once been fear and isolation, there was finally understanding and hope.  Today, 30 million Americans live with a rare disease. Yet families continue to face barriers to basic genetic testing and specialty care. For ultra-rare conditions like Okur-Chung Neurodevelopmental Syndrome, fewer diagnoses mean fewer research opportunities, and without research, there is no path toward treatments or cures. That is why I am here. I am asking for increased access to genetic testing and expanded telehealth across state lines so Colorado families can reach rare disease experts wherever they are. Geography should not determine whether a child receives answers. Insurance coverage should not determine whether a family gets hope. These changes would shorten diagnostic journeys, reduce suffering, and improve lives, not just for Harper, but for thousands of Colorado families still searching for answers. Thank you for your time, your leadership, and your support.

By Ashley Brown KK (her real name is Jenesis) is a joyful, determined little girl who teaches us every day what courage and perseverance look like. At just 3 years old, her journey has been filled with hard work, patience, and so many victories worth celebrating. She’s learned to walk, run, and now proudly ride her tricycle. She sings her ABCs, counts to five (sometimes in her own order), and is learning her letters, numbers, shapes, and colors one step at a time. Each milestone she reaches is the result of effort, support, and her never-give-up spirit. We’re working toward confidence, communication, independence, and continued growth—celebrating progress over perfection. KK’s story isn’t about being “behind” or “ahead,” but about showing up, trying again, and shining in her own beautiful way. And we are so proud of her. 💛

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

A Year in Review: Key 2025 milestones and progress from the CSNK2A1 Foundation in research, advocacy, awareness, and family support for the OCNDS community.

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.