Family Stories

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.

As an early childhood special education teacher, I took a college course last year to increase my knowledge and improve my teaching skills and strategies. Throughout the course, I have been reading a book titled “An Introduction to Young Children With Special Needs: Birth through Age Eight” by Richard M. Gargiulo and Jennifer L. Kilgo (2019). While reading this book, I came across a section in chapter 3 about family-centered approaches to early childhood education. One part that particularly stood out to me is as follows, “Families of young children with delays or disabilities in the 21st century remain an instrumental force in moving the field of early childhood special education forward. Many parents are involved in professional and parent organizations and provide support to other families. Families have a strong voice in advocating for legislation and service for their children and other children and families.” (p. 59) After reading this, my mind instantly thought about the CSNK2A1 Foundation that focuses on finding a cure for Okur-Chung Neurodevelopmental Syndrome (OCNDS) and the effect families, medical professionals, and teams of individuals have on bringing awareness to this rare syndrome. Because OCNDS affects individuals and families in countries throughout the world, it is essential to work together. For six years, our family was not able to find a diagnosis for our son and his delays. Professionals that worked with him kept telling us to continue what we were doing (OT, PT, speech, and vision therapy) because we would still need to do all of that even if we had a diagnosis. In 2016, Dr. Okur and Dr Chung used their knowledge and skills to discover OCNDS. Although we did not receive Cam’s diagnosis until 2019, we are grateful to them for using their knowledge, skills, and experience to discover OCNDS and also for their constant research of the syndrome. We are incredibly grateful to Jennifer Sills, founder of the CSNK2A1 Foundation, for consistently working tirelessly to bring knowledge and information to families in need, all while meeting her own child’s needs. She is a strong and incredible advocate and voice to bring about awareness in our own states, provinces, and countries, and using our voice to encourage legislatures to bring about policies that will benefit children with rare syndromes. From attending the CSNK2A1 Foundation bi-monthly family calls and parent advisory board Zoom calls, I have met many incredible families who navigate life's physical and emotional challenges that come from raising a child with a rare syndrome(s). Each parent, guardian, and caretaker truly has a strong voice and advocates not only for their own child, but for children with delays and disabilities. Many of them use their time to raise awareness by having monuments light up on OCNDS Awareness Day. Despite our cultural differences, language barriers, family dynamics, and other differences and backgrounds, families, medical and education professionals, and scientists truly work better together when we use our collective “voice” to raise awareness and bring about changes, policies, and research that affects children and young adults with OCNDS. As we collaborate with each other and other organizations, many individuals with delays and/or disabilities will benefit and grow. While living within our own spheres of influence and communities, parents and families will continue to advocate for their child to receive the support and resources that will help their child(ren) grow and develop, and overcome obstacles and challenges that are in their life. In the 21st century, families and professionals truly are an instrumental force in helping each other become better, move forward together, and bring about changes and positive progress for those who are rare! Each individual is special in their unique way!

When our last son, Cam, was born, we knew our family was complete. He was an easygoing little guy and slept through the night at 3 months old (such a blessing!). When Cam was around 1 year old, Cam had his well-check visit. At this visit, our pediatrician noticed his eyes were not tracking. From that point on, our lives became filled with worry, concern, therapy sessions, and specialists appointments. Nobody could explain to us why he had these delays, just that he had them. As a mom, although professionals told me differently, I was filled with guilt that I did something wrong or that I could have prevented it. Cam did not walk until he was around 2 years old and even at that time, he had to wear specially made orthotics and use a toddler-size walker to attempt to walk. After we moved to Macau, China S.A.R., we found incredible therapists (PT, OT, speech, and vision), specialists, and teachers in Macau and Hong Kong who supported Cam with his growth and development. Although Cam has a passion for sports, we did not think he would ever be able to participate in sports like his older brothers, especially American football and basketball. Fast forward to now, and after years of therapy and finally a diagnosis in 2019 of Okur-Chung Neurodevelopmental Syndrome (OCNDS), he participates in sports and no one would ever know he had these physical delays. For the past two years, he reached a milestone and has been attending middle school. One day, out of the blue, Cam came to me and told me he was going to try out for the school basketball team. In my mind I was thinking “ok, but you probably won’t make it”, but he was determined to try. Thanks to an incredible coach who recognized Cam’s ambition and desire, he was put on the team. During games, when the team was far ahead, Cam was put in the game. There were a couple of times he would start to shoot and the entire team would continue to pass the ball to him and let him shoot until he made it. Even the kids on the other team and referees noticed what they were doing and stood back. After he made a basket, all the students and parents in the bleachers erupted with cheering and clapping. These were amazing and special moments! During this past year, Cam was also chosen as “Student of the Month” from his Specific Learning Disability (SLD) teacher and received straight “O’s” for outstanding citizenship. We are so proud of him and his perseverance and diligent efforts and hope it continues into his next school year. Update: this current school year, Cam is on the basketball team again. Unlike last year, when Cam is in the court now, his coach expects him to try his hardest to play. Nobody gives him “free” shots anymore. At his first game, he made 2 shots while being guarded by the players on the other team. As a parent, these past two school years has made all the hours of therapy, monthly ferry trips from Macau to Hong Kong and vice versa, and constant worry completely worth it. We are so grateful for a community that is inclusive and sees a child’s potential and who they truly are. In moments of despair, we as parents can be concerned and full of worry, but I know as we strongly advocate for our “rare” children, those living with disabilities, and early intervention, amazing things will happen and these unique individuals will become more than we, or others, thought they could ever become. They will give others, even middle school, pre-teen/teenage boys, opportunities to develop compassion, kindness, understanding, respect, and inclusiveness. Each of our “rare” children’s future is so bright!!

As 2024 comes to a close, we’re reflecting on the milestones, achievements, and memorable moments that shaped the year. From major accomplishments and company growth to employee highlights and industry innovations, join us as we look back on the successes of the past year. Here's to celebrating progress and looking ahead to an even brighter 2025!

Join us on a journey of navigating anger and resilience in the face of Okur-Chung Neurodevelopmental Syndrome (OCNDS). Explore one family's mantra of 'one foot in front of the other' as they confront the challenges and celebrate the spirit of their extraordinary daughter, Jules. A heartfelt reflection on finding strength amidst adversity.

Join us on International OCNDS Awareness Day as we share a poignant podcast featuring Amber Reynolds, an OCNDS parent, discussing the transformative power of celebrating small victories in parenting. Discover how embracing 'inchstones' shifted Amber's perspective and fostered gratitude amidst challenges. A reminder of the beauty found in life's smallest victories.

Rare Disease Day 2024: A day to unite, educate, and empower families affected by rare diseases. Find strength in community and share your journey with others who understand.