Category: Stories

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.

Harper is rare because she brings light and joy to everyone around her with her infectious personality.

When my child was born I immediately knew something was "off" and for the next 13 years I searched for an answer. At the age of 8 we got 2 diagnoses: Generalized Anxiety Disorder (GAD) and Borderline Cognitive Functioning. With no reasonable explanation in our family or medical history, I kept looking, kept insisting to medical professionals that something else was going on, because there were physical characteristics in addition to mental symptoms. At age 13 we got our answer: a rare genetic condition caused by a mutation to the CSNK2A1 gene resulting in Okur-Chung Neurodevelopmental Syndrome (OCNDS). It explained every symptom, every delay, every mental health struggle. Little did I know it would be just the beginning of finding the appropriate care for my child. You see, at the time, my child was one of less than 200 people in the world with this condition, no medical provider I interacted with knew what to do with the diagnosis I was now presenting to them, let alone any teacher or care provider that would join our team of helpers. So I continued, collecting letters for the alphabet soup that would describe my child so that our team would see familiar diagnoses to help them help us. There were things in the back of my mind that kept pushing in and I just kept asking, even after I received reassurance. "She doesn't have autism, she's too social! she makes eye contact!" they would say, but still that nagging feeling would linger: yes, but she has never made a friend her own age, she is awkward and needs to be accommodated in conversations, what does that mean? I even asked private assessors to add an ADOS (the standard assessment for Autism Spectrum Disorder) and they would refuse, saying there's no way that was part of her picture. Thankfully we finally connected with a developmental pediatrician who heard me and referred us for an autism assessment at the specialized clinic and low and behold, not only did my child have Autism Spectrum Disorder (ASD), they were severely impaired in some areas AND they had a moderate language disorder (MLD) that would explain their difficulty in following conversation and directions in daily life. They actually removed one diagnosis of Mild Intellectual Disability and replaced it with Specific Learning Disorders (SLD) in math and reading. It was a game changer! To be heard! FINALLY! My child was not just "slow" and "on their own timeline" . They had concrete struggles with lists of solutions that had worked in the past, but I had so much trouble convincing teachers to try them because we didn't have the official diagnosis. Now they were willing to try. Why now? Why was I not considered an expert before? Why did I need to wait 16 years for validation? I felt relief and anger all at once. And then another blow, one I dreaded, but did not expect. As we were trialing stimulant medication for ADHD, the things that I thought were "hyper focus" when describing them to the same developmental pediatrician said. "oh, that sounds like a compulsion, have you looked into OCD?" Um, no, that is the dreaded diagnosis. The debilitating diagnosis I have seen almost destroy members of my family. The diagnosis I had been pushing down plopped down in front of me. So another referral came, this time, for the first time, to a psychiatrist. Within 15 minutes we had more letters to add to our alphabet soup: Obsessive Compulsive Disorder (OCD). Thankfully this psychiatrist was also a sleep specialist and I had pushed for an at home sleep study because my child was often tired and talked in their sleep. He took one look at the sleep study (that I had been told was normal) and said, "well, it's not showing signs of apnea, but she's not going into deep sleep, she stays in light sleep all night." YES! I knew that, why? I asked. So he asked my child (who had not uttered a word in the session due to their selective mutism) "when you are going to sleep, do your legs sometimes feel funny?" They nodded emphatically and started writing on their paper: sometimes it feels like I have to readjust my feet a little bit. Lightbulb: the psychiatrist turns to me and says, "restless leg syndrome" (RLS). OCNDS - CSNK2A1 gene mutation GAD ADHD ASD SLD - math and reading MLD OCD RLS Those are the letters of our alphabet soup. When you are rare, or in our case ultra rare, sometimes one diagnosis isn't enough. It has been my job to dig and find all the letters that describe my one extraordinary kid so that they can live the best life they possibly can. No one else can do that for them.

By: Mom of 18 year old Child with OCNDS My Child turned 18 in January. 18 has been the toughest stage for me, as a mom, to navigate. I felt much more capable in the days of juggling multiple doctor appointments, therapy appointments, and navigating the school system than I have felt thinking about long-term preparing for and parenting an adult child with a disability. 18 hit me differently than any other stage. I feel like we’re at a bit of a crossroads now that they have entered adulthood. It’s looking back to see how much we’ve gone through but how far we’ve come. It’s a change in perspective and realizing that now that they are 18 and an adult they should have more ownership over their story and telling it or allowing me to tell it. It’s them having the right to privacy and encouraging them to self-advocate, it’s supporting independence & allowing them to develop their identity as a person having OCNDS. It’s reflection and thinking about things that I wish we had done differently and also appreciating all the things that I’m really glad we did & the people who helped so much along the way. This journey with disability is like an ocean. Some days you’re in it, tackling the waves as they come. At moments you’re riding high, surfing confidently on the biggest wave you could ever imagine, only to come crashing down on the shore. There are days where you’re in a calm ocean floating along just enjoying the rhythmic pattern - gentle and expected and stable. You get used to that, get relaxed, and then a gigantic wave comes & threatens to drag you under. In those moments, sometimes you’re going to rise to the top and ride the wave to the shore. In other moments, you’re going to get rolled & bounced around until you land on shore with some scrapes and scars. But, you keep going back. Sometimes you’re relaxed when you enter that water, other times you’re exhausted but you know that you love the ocean so you just keep going back, even when you are not always sure what the conditions are going to be. I think the biggest advice I could give to parents who are just starting out is to be honest about where you are in your journey & to reach out either as support or for support. Disability is not a dirty word and it’s not something to be afraid of. Is it overwhelming, scary, & heartbreaking sometimes? Absolutely! Is it celebration & appreciation of small moments with more joy than you can imagine? Also, absolutely true. Sometimes it’s so hard to come to peace with and realize that your child might not follow a “traditional“ route because of disability. At other times it’s finding positives in that. I promise you, parents of younger kids, that there are great moments ahead! In this past year, since turning 18, my child had the opportunity to do things that I never thought they would - they served as manager for a varsity sport, they participated in a school-wide unified sport and earned a varsity letter, they decided they wanted to try to attend their junior prom and spent the entire night on a dance floor with a group of peers who saw they wanted to join in and kept them dancing! Did they do all of these things in a “traditional” way? No. Does that make any of these huge milestones any less important? Also, no. I never ever thought I’d see them do so many of the things they have done over the years. They worked hard and it took time. There are things that I know they won’t likely do which can still be heartbreaking, but my child will still have a good life. Our journey has been a little bit different than some because our family did not receive our child’s diagnosis until they were age 15. Sometimes I think about what it would’ve been like to have an answer when my child was two or three years old. I don’t think one journey is better or worse than the other, I just think that they’re different. We spent the majority of their childhood addressing issues as they came up, one by one. We had no clue what to look for. It was overwhelming because we never totally knew what was going to come next. We had faith in the fact that we were doing the things that we needed to do regardless of the fact that we couldn’t connect the dots between all of the different health and developmental issues that they had with one answer. Honestly, by the time we got our diagnosis, it was mostly a feeling of disbelief. I didn’t think I would ever see a diagnosis for them and in many ways it changed nothing that we were doing. We did have a few health things checked out that were recommended to us. The best part about getting a diagnosis was finding this amazing OCNDS community. It has helped in so many ways and I feel so lucky that there is a foundation & an organization that is active and knowledgeable and trying to make a difference. I want to lend support to those of you who have younger children, or those just starting out on this journey. It is hard, it is different. But, there is so much that is positive in the journey, and so much that is possible for our kids to achieve!

Written by: Claire Whitehill Kirsty goes to a mainstream school that has an Autism unit attached to it, and she spends much of her time in the Rainbow Centre away from the rest of her class. She has been at the same local school campus since she was 4. She is now 11 and loves walking, cycling or scooting to school around the corner from home along with her friends, which she has known since they began in nursery together. Many of them are protective over her because she is much smaller than them and because they have grown up noticing that she behaves differently to them. Kirsty is often isolated from her peers at school, although she spends afternoons in the same classes as them, she does not join them in the playground for break or lunchtime and rarely uses the school cafeteria. She is afraid of being knocked over by the other children who are larger than her, finds it difficult to cope with the noise of the large numbers of children due to sensory overload and prefers playing on her own due to the social communication difficulties she experiences due to the Autism. This means that although she is a little celebrity around the school, most of the other children don’t understand why she is different and sometimes separate from them. The school held an awareness day for another rare disease earlier this year, which gave us the idea to ask them to do the same for OCNDS and the CSNK2A1 Foundation. They were unable to do this on April 5th OCNDS awareness day due to the Easter school holidays, so we arranged to celebrate on 21st June instead. They had also included an article in the school newsletter about the monuments lighting up on April 5th and links to the newspaper articles which Kirsty featured in at the time. The school advertised the event in the parents’ newsletter and invited children to wear mufti, their own blue and green clothes to school instead of uniform for a £1 donation. They also sourced fundraising doughnuts from Krispy Kreme, which are £7.50 for 12 pieces, which they then sold for £1 each and raised £522 from the mufti and cake sale combined. The school also wrote an account of the event with photos in the newsletter at the end of the week. The school was decorated with green and blue balloons and our OCNDS banner was hung on the school gate to greet the children as they arrived. Jennifer kindly sent tie dye t-shirts over for the teachers and they were very popular amongst the staff and students, with many people asking if they could have one. We also shared wristbands and window stickers for the event. Some of the children made blue and green posters to advertise the event, which were displayed around the school. Kirsty’s teacher made a presentation using our brochure which was used by every class teacher to educate the children about OCNDS. It included the main symptoms, the word cloud about our children’s character traits, some information about the monuments which had lit up on April 5th and photos of the newspaper articles which Kirsty had appeared in. This has helped not only to elevate Kirsty’s celebrity status within the school and local community, but also to allow the children to understand better why Kirsty is different to them and may not join in with their games in the playground. Often children ask us why Kirsty is so small and behaves in a way which is so much younger than her peers, hopefully this will go some way towards raising awareness and understanding, and encouraging acceptance within the community. We were very touched that the school had gone to such a great effort to make the event happen and to make us feel like we are included as part of the school and the local community. It really meant a lot to us and we are incredibly grateful for their support.

OCNDS Awareness Day Reflection by Melanie Kretas, OCNDS Parent

cheerful, sunny, helpful, fight for the best health, math problem, outbursts of anger and outbursts of happiness, I love him more than life, and I can't imagine my life without him