Blog Layout

My Reflection of Rare Disease Day 2018 – CSNK2A1 Foundation

Jennifer Sills • Jul 11, 2018
Rare Disease Day 2018 Group Photo

EVERY DAY I HOPE YOU FEEL LOVED, SEEN, ACCEPTED AND PART OF A COMMUNITY.


This was the first time our family, together with our community, celebrated Rare Disease Day. We celebrated in honor of our daughter, Juliet, who has Okur-Chung Neurodevelopmental Syndrome (“OCNDS”), an ultra rare genetic disorder. This celebration documented our huge shift as a family to how we approach our sweet Jules’ rare genetic disorder.


I remember when Jules was 18 months old and we were seeking answers. My husband and I were devastated by her initial diagnosis of being on the autism spectrum. The realization that our child was different and her road in life would be filled with many speed bumps and unexpected detours was heartbreaking. Being a first time parent was overwhelming enough without incorporating a team of specialists and a new scientific lexicon into our lives.


As I reflect back on the early years, I think about the tears and the heartache. I responded to the initial diagnosis by taking charge of Jules’ early intervention team, Team Jules Rules, like a Fortune 500 CEO. At the peak, we had 16 providers working under our roof. We encouraged co-treatment, collaboration and teamwork. We held quarterly meetings with detailed agendas and reports. Some days I felt so overwhelmed with managingTeam Jules Rules, I could barely breathe. During those times, I never imagined we would be throwing a party tocelebrate a rare genetic syndrome. Times have changed and science has caught up with Jules. Whole Exome Sequencing recently revealed that she has OCNDS.


Our first Rare Disease celebration wouldn’t have happened without the help of our community. For years, it was difficult for us to accept friends’ offers of support because we didn’t know what we needed or how to say yes. The first step was embracing the importance of saying yes by accepting their help in planning our first Rare Disease celebration. This event taught us that we can’t do it alone and more importantly we don’t have to. (Thank you to my tribe, you know who you are!)


Together with our community, we didn’t plan any ol’ celebration. The next morning our yard looked like the kid version of “The Hangover”. This was a celebration that would bring acceptance, awareness, community, collaboration, hope and a renewed faith in humanity.


At our Rare Disease Day celebration, our friends mentioned they didn’t know what to expect when they arrived. Would this be a sad event? They wondered if you could celebrate a “rare disease”. Our celebration gave everyone an opportunity to ask questions that they were once too shy to ask or didn’t know to ask. The celebration provided a safe space to ask about Jules’ differences. For example, why doesn’t Jules talk or why does she jargon so loud? Why does she crinkle her fingers by her face when she is smiling? Will she ever talk? Does she understand what we are saying to her? Can she read? I was able to tell them that I didn’t know the answers to all their questions.

Unfortunately, the OCNDS community knows very little about the syndrome. However, we are determined to find answers. Earlier this year, we formed CSNK2A1 Foundation to fund research to unlock the mysteries of OCNDS.


Rare Disease Day was especially important for our neurotypical 7-year-old son, Jasper. Jasper loves Jules very much. He worries about her. He worries she may never talk. He frequently asks how she will live on her own as an adult. He doesn’t know how to share her differences with others. Rare Disease Day gave him an opportunity to put his worries aside and celebrate Jules as she is. He wore our foundation t-shirt, CSNK2A1 Foundation, to school. His friends and teachers asked him about it. He proudly responded that his sister has a rare genetic disorder that makes it difficult to talk*. He had such a positive day; he wants to do it again! Jasper was able to talk about his sister in away he never could before. He felt accepted and heard. That t-shirt represents hope that the foundation can find treatments to alleviate her symptoms. He has hope that being an adult can be easier for Jules and others with OCNDS.


Word spread throughout our community that we had this event. Our friends and neighbors used the event as an opportunity to ask us questions about Jules’ condition and our corresponding foundation. People don’t often know how to ask or start a conversation. Rare Disease Day opened opportunities for all of us to learn. I even received several calls from families to ask about starting her their own foundations for the rare genetic disorders that have unexpectedly become a part of their lives.


It is impossible to get Jules to smile for pictures. But, on this day, there seemed to be a huge shift for Jules. As we were taking the group photo, I whispered to her, “Everyone is here for you – to celebrate you. We all love you so much.” She hugged me tightly and smiled brightly. I never expected her smile to be caught on camera. To my surprise, in every group photo she has a huge smile. In every single picture she beams with happiness. She can’t tell me how she was feeling at that moment. But I hope she felt accepted. I hope she felt loved. I hope she felt seen. I hope she felt part of our community. This is what any mom wants for her child. Now that the party has ended and Rare Disease Day has past, the real work begins: making sure she has the opportunity to feel this way every day and not just on Rare Disease Day. But don’t worry we are already planning next year’s party.


Back to work!

FAQS RESOURCES REGISTER DONATE
Newborn Genetic Screenings

The Power of Newborn Genetic Screenings: How Newborn Genetic Screenings Can Change the Diagnosis

By Penelope Gatlin • 05 Oct, 2023
By Penelope Gatlin October 2023 When our son was born in 2012, he was hypotonic, severely jaundiced, had feeding difficulties and features such as epicanthic folds and small low set ears. We were told immediately that doctors had suspicions of a genetic syndrome. At that time, genetic testing was limited and once abnormal karyotype, Trisomy 21, and Fragile X were ruled out, we left the hospital with an 8 day old and no diagnosis. While no testing was available at that time to identify the ultra-rare syndrome my child had, because it wouldn’t even be identified until 4 years later, I can only imagine the difference it would have made to our journey to have such an answer sooner. Instead, we were unprepared and actually unaware that just because a diagnosis hadn’t been made then that it didn’t mean there wasn’t in fact a rare disease present. Instead, we dealt with issues as they came and worried and wondered what would be next. From feeding issues and reflux and constipation, to low muscle tone and delayed walking, to speech delay, social and emotional delays, toileting delays, diagnoses of developmental delay, anxiety, situational mutism, sensory processing disorder, and autism, until finally genetic testing that revealed the diagnosis that we’d waited 7 years to find out. While receiving a diagnosis can seem scary, not having an answer but knowing there must be one is even more so. In 2019, the day I clicked onto the portal to see the test results, the largest word on the page was POSITIVE. My heart stopped for a second. For the first time, I read the words “Okur-Chung Neurodevelopmental Disorder.” A roller coaster of emotions ensued, including sadness that we hadn’t known this from birth because it would have made us as parents more prepared, and given us more understanding about what might arise next. Relief that we had an answer, grateful that this syndrome had been identified and that he was among one of the first hundred diagnosed with it in the world, and glad we had the privilege to have access to the testing. Excitement that we can participate in future research. Fright that there’s so much we don’t know about OCNDS, and happiness that there is something that we do. A feeling that we are no longer shooting in the dark and have a small but supportive community to rely on and learn from. I am hopeful that one day, all newborns with features like my child will be tested at birth, so parents can have access to the answers, support, and interventions and therapies that can best help their child as soon as possible.
Autism Diagnosis

Why I Should Have Gotten the Autism Diagnosis for My Child Early On (or Why I Did Not)

By Terri Jordan • 23 Aug, 2023
For 16 years, my child displayed numerous symptoms that left us searching for answers, but a genetic diagnosis remained elusive. I considered having my child evaluated for autism to shed light on their situation. However, when I reached out to teachers, doctors, and therapists, I received frustrating responses: “Your child is too friendly to be autistic.” This statement made me doubt the possibility of autism because my child was sociable. “Your child can transition from one activity to another – they are not autistic.” Hearing this, I questioned whether my child’s ability to shift activities invalidated the need for an autism evaluation. “Your child can look me in the eye and answer questions – they are not autistic.” Observations like this made me second-guess the idea of autism, even though my child faced various challenges. “Getting a diagnosis that does not apply to your child would be a big waste of money.” Despite my persistent concerns, this cautionary advice about the evaluation costs left me hesitant. We finally pursued an evaluation when my son turned 20, and it confirmed that he is indeed on the autism spectrum (severe side). Looking back, I regret not taking this step sooner. I should have pursued the autism diagnosis before we received the genetic diagnosis. There are several benefits we could have gained as a family if we had pursued an early diagnosis: “Early Support Is Crucial:” I now realize that early intervention could profoundly impact my child’s development. We could have accessed the right services and therapies much earlier with a diagnosis. “Understanding My Child Better:” I struggled to comprehend my child’s behaviors and communication difficulties. An earlier diagnosis could have provided insights into their unique needs and thought processes. The education could also help me explain how to react to my child’s behavior to family members. “Tailored Guidance and Resources:” A diagnosis could have opened doors to specialized resources and guidance, enabling me to provide the best possible support for my child. “Connecting with Others:” Being part of the autism community might have connected us with other parents who understand our experiences. Sharing and learning from each other could have been invaluable. “Planning for the Future:” Knowing more about my child’s strengths and challenges could have helped me better plan their future, including education, career, and overall well-being. Depending on your location, many states offer funding and support if your child has an autism diagnosis. I wish I listened to my voice instead of being swayed by experts who didn’t fully understand my child’s situation. Ultimately, I know this decision is significant, requiring careful consideration by parents. Looking back, I wish I had trusted my instincts and sought an evaluation sooner to improve my child’s life.
Share by: