Category: Our Voice

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.

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.

Probably Genetic is a group of geneticists, engineers, and patients seeking to help people with rare diseases access genetic testing. The company has recently launched a no-cost genetic testing program for people with seizures or developmental delay-related disorders. Eligible individuals can receive whole exome sequencing at no cost. This testing analyzes all of the protein-coding regions of your DNA for disease-causing mutations. Eligibility To participate, candidates must reside in the United States. Eligibility for the program is determined by a brief, easy-to-understand online quiz. Care partners, friends, or family members are encouraged to submit on behalf of their loved one if their loved one cannot complete the Symptom Checker without assistance. How it works Go to the Symptom Checker website on any internet-connected device. Answer the questions in their entirety. It should only take 5-10 minutes. The Probably Genetic team will thoroughly evaluate your Symptom Checker response to assess your eligibility. This typically occurs within one to two weeks. If you are eligible, you can claim your test, and the lab will send a kit right to your door. Collect a saliva sample and ship it back in the pre-paid box. We can also assist you in scheduling a USPS pick-up. Results are available in 6 to 8 weeks. This test shows all disease-causing mutations related to your reported symptoms, even those that are not seizure-related. If genetic testing is offered, you will have access to post-test genetic counseling with a board-certified genetic counselor. The genetic counseling sessions are virtual and are included at no cost to ensure you can make informed decisions and understand the results. View the status of your Symptom Checker submission and/or test kit through the patient portal. You can download a PDF copy of your genetic report, as well as a file containing your raw genetic data. Take the Symptom Checker Here: https://www.csnk2a1foundation.org/genetic-symptom-checker  The Probably Genetic team is always open to feedback so the program is as successful as possible for this community!

Today on National Sibling Day, we shine a spotlight on our rare siblings. Growing up with a brother or sister with complex healthcare needs has unique benefits and challenges. Rare siblings live uniquely complicated childhoods. Whether bringing a friend home and worrying about a sister’s embarrassing behaviors, or wishing for a brother able to play baseball with them, they are always facing situations many of their peers don’t face. Having a sibling with disabilities or special healthcare needs is a complex experience but can also be rewarding. Some siblings feel their place in the family gives them an understanding of difference, diversity, and helping others. Other siblings do not feel this connection and might struggle with these differences. As you are working hard to create a world that accepts and celebrates differences, don’t leave your typically developing child out. Here are a few ways to help them feel seen, valued, and heard: Celebrate their achievements . Show that you value and celebrate them, too. Encourage hobbies or extracurricular activities that are just for them. These activities boost your child’s self-esteem by providing them with something all their own. Spent time alone together . Don’t forget to show your siblings your appreciation by spending time with them separately. Even if you only have a few minutes, sharing an experience is really special. Talk about the future . Be prepared to talk to your children without disabilities or special health care needs about the future. Siblings might be curious or worried about their role and what the future could look like for your family – and for them. Arm them with age-appropriate information . Siblings share many of the same complex needs, emotions, and concerns as their parents, all while managing the challenges of growing up. Providing them with accurate age-appropriate information empowers them to advocate for themselves and their siblings! Provide them with support. Siblings may benefit from talking to a counselor or therapist who understands the challenges they are facing. Consider finding a support group or program specifically for subkings of children with rare diseases. Help them connect with others in similar situations . Encourage your child to connect with other siblings of children with rare disease. They can find support and understanding from others who are going through similar experiences. I highly recommend checking out The Courageous Parents Network’s video Rare Disease in Children: Voices of the Siblings *Jessica Ruth is the Executive Director of Treehouse Tribe and a certified Sibshop facilitator with a Masters in Special Education. Her dedication to supporting families of individuals with disabilities led her to volunteer at the CSNK2A1 Foundation, where she serves as a sibling support educator. Jessica's expertise and commitment make her a valuable asset to the OCNDS community.

2023 Rare Disease Day Reflection By Amber Reynolds When I look at snowflakes, I notice how beautiful they are.... all so unique, and all so different. Different shapes, different sizes, fluffy ones, tiny ones, intricate ones, to simple ones. A snowflake is unique because its shape evolves as it journeys through the air; no two will ever be the same. Even two flakes floating side by side will each be blown through different levels of humidity and vapor to create a shape that is truly unique. Harper and her syndrome, Okur-Chung Neurodevelopmental Syndrome, remind me a lot of a snowflake. When considering uniqueness, not only is Harper unique and not like any other child I have ever met, but she is also just as unique to other children who also have Okur-Chung Neurodevelopmental Syndrome. Right now there are only 200 kids IN THE WORLD, who have Harper's syndrome caused by a mutation in the CSNK2A1 gene. Harper is rare, Harper is unique! My little snowflake loves shiny objects, candy, she bounces and skips around-hence her nickname, hippity hop, she loves speed and thrills, her heart is full of love and she's so caring for others, she uses a communication device to talk, she is scared of hand dryers in restrooms, she is stubborn and strong-willed, she has trouble falling asleep at night, she is in the 6th grade but can't read or write, she stems by flapping her hands when she's excited, she loves outdoor adventures like hiking and skiing, she loves her friends, her smile is infectious, and she's pure JOY to be around! Harper is rare, Harper is unique! The CSNK2A1 community continues to evolve as others share acceptance and awareness. So just as a snowflake, Harper will continue to evolve, be unique, and beautiful. ❄️❄️❄️🤍🤍🤍❄️❄️❄️ #beunique #uniqueasasnowflake #rare #raresyndromeday #csnk2a1 #okurchungneurodevelopmentalsyndrome

Receiving an OCNDS diagnosis can be overwhelming and heartrending . Our Parent Advisory Board (PAB) understands how difficult it can be to navigate an OCNDS diagnosis. To help families on this journey, our PAB developed an OCNDS/CSNK2A1 Foundation brochure. This brochure can be shared with your family, friends, teachers, providers, and clinicians to learn more about OCNDS. Please share our new brochure far-and-wide. Thank you to our PAB for creating this helpful tool for our community. It will be available in multiple languages soon.

Today is International OCNDS Awareness Day . On April 5, 2016, lives were changed forever. On this day, 5 years ago, the first paper was published describing a brand-new syndrome called Okur-Chung Neurodevelopmental Syndrome, also known as OCNDS. Initially, there were 5 children identified in the paper with OCNDS. Soon these 5 children would be joined by others around the world. Behind every rare disease diagnosis there is a family with big dreams and hopes. Someone once said that "Nothing about Rare Disease is simple - not the diagnosis, not the daily care, not the long term." OCNDS takes a toll on families financially, emotionally, spiritually and mentally. Currently, when someone receives an OCNDS diagnosis they are told there is no treatment or cure. This is changing. OCNDS families are not only taking a seat at the table, providing real-life perspectives that are helping to shape the development of new treatments and therapies, they are the DRIVING FORCE behind OCNDS rare disease research. To date, with your generosity and support, we have committed over $400,000 to life-changing OCNDS research. Today , we ask you to Stand with Us on this journey. Today , Stand With Us by watching this video about individuals living with OCNDS Today , Stand With Us by using your voice and sharing this video with your friends and family.

We are a proud member of the Global Genes Foundation Alliance . Global Genes ’ mission is to connect, empower and inspire the rare disease community. As an Alliance Foundation, we have the opportunity to collaborate and exchange best practices with other rare disease organizations to drive better outcomes for the rare disease community. Global Genes profiled our President, Jennifer Sills and the CSNK2A1 Foundation. Read the entire article here . Learn more about Global Genes at www.globalgenes.org

We are excited to launch our Parent Education Webinar Series. As parents and patients try to navigate a new diagnosis, they can be overwhelmed with information. We want to provide informational videos to help parents and patients navigate their rare diagnosis and inform them about different types of interventions available. Our first webinar is about Music Therapy . Thank you to Kristin Moulder of MidWest Music Therapy for donating her time and talents to introduce Music Therapy to our community. Thank you to the Jordan family for sharing their experience with music therapy and participating in a demonstration. Be on the look out for our quarterly release of the Parent Education Webinar Series.