Blog Layout

Reflections From an OCNDS Parent on Their Family’s Journey to Diagnosis

Jennifer Sills • Sep 13, 2018
RHIANNON CRAMER

By Rhiannon Cramer


I wanted to take a moment to say how thankful I am for the OCNDS community and to tell a little of our story and journey.


Our daughter’s problems were evident by the second week of her life. This turned our lives into a journey that has been a long difficult and at times frantic search for the cause of our daughter’s problems. All of our best laid plans for our family were turned upside down. Instead of returning as planned to my successful career after a few months of snuggling an adorable baby, I started down a new path of work and one that in New York is not paid! On this new path, we were now a one income family trying to just survive and keep our family going! I was learning to care for a medically complicated child with a mysterious illness and an unknown diagnosis while trying to balance marriage, daily life and the needs my other children. Our days were filled with appointments, therapy (OT, PT, SLP, etc) worry, testing, caring, phone calls, and traveling far and wide in an attempt to solve the mystery and help our child. We have an amazing Pediatrician who has been there for our daughter at all times, fighting right with us and for her. We found the right doctors along the way who are passionate about doing their best for her.  Unfortunately, we also had other doctors literally give up on her and say, “Call me and come back if you ever figure it out!” Those doctors would not refer anything out for second opinion or review. One doctor did recommend we buy life insurance for her now just in case. It stung to hear those words and I sobbed for a while after hearing them. (Not the worst advice I guess if presented better…regardless it was not in our one income cards anyways). Another doctor opened up a big book to a page with one of our daughter’s more rare symptoms that had five choices for a diagnosis and said, “This is it, maybe, come back in 5 years and we will see if it still fits since insurance won’t pay for testing.” In other words, I don’t feel like bothering. (For that doctor’s information, our insurance did pay for it and it wasn’t the correct diagnosis either!). Countless times, we heard doctors say, “I think this be the diagnosis. I’m going to run a test. Results in four weeks.”  Then four weeks later say, “Oh wait. Never mind. Nope, not it!” Some of those misdiagnosis were catastrophic ones, while others were not so bad in the grand scheme of life.  Though all of this, we became stronger as a family and never gave up the fight for our little one!  Giving up was not an option! We needed to know what we were facing. What will her life be like?  Will she live to reach adulthood?  What treatments would be best and how?  Why is this all happening to her? What can we do to help her? She was slipping away in front of us and we needed to know if there was something we could do to save her!  One of the misdiagnosis sent us to Baltimore to meet with another family group and doctors (I was not going to wait 5 years and see if that was the correct diagnosis! She did not have 5 years to wait!). As a result of that meeting, we were able to get Whole Exome Sequencing (WES) done when she was 2.


In late 2015, WES revealed the cause of our daughter’s problems – a genetic mutation of her csnk2a1 gene which was later named Okur-Chung Neurodevelopemental Syndrome (OCNDS). When our daughter was diagnosed with the csnk2a1 mutation, it was a tiny group and she was the 5th known case. There were only 4 other known girls with the mutation. I received the information about her mutation prior to the first research paper being published. I spent hours, upon hours, upon days, upon weeks, upon months waiting to find any of the other families. Spending hours upon hours reading through any medical journals I could find that even had a mention of csnk2a1. Reaching out to anyone I could find to help me find other affected families or even just understand the mutation. I cannot even count the number of emails and phone calls I made to organizations, medical providers, geneticists, other family groups not related to csnk2a1, and researchers – A hopeful search for information, a search for those other families to be able to talk with them, compare notes with them, learn from them, to finally not be alone, and maybe even reaffirm that she would get better and be with us for a long happy life. This was why I formed the Facebook group and webpage. Very slowly and eventually over time I started to find them (or they found me) one by one.  I remember the first time I found a family it was like I had won the lottery! It was then that we were not alone! I never want anyone here to feel alone ever!


With advancements and accessibility to testing we are now finding more and more families. I would never wish a child to have a genetic mutation. But I have never met a more dedicated, determined and loving group of amazing individuals from around the world. They surround our kids with love and hope. They are fiercely determination to help our children live the best lives they can!


After years of this physically, monetarily, and mentally draining quest, this year we finally found a medication to help our little one stabilize and start to help her really be who she can be. This enabled me to take care of myself for once and I had needed surgery done earlier this year. Now that I am feeling better, I realized how much of a toll this journey had also taken on my body and mind. It all managed to accumulate without me noticing. I think that at some point in each of our journeys we all have to deal with these feelings and stressors. We should not be ashamed to talk about how stressful this can all truly be. Now that I have recovered from surgery, I am rested and ready to go with a renewed determination and focus!


Also around that time the amazing and wonderful Jennifer Sills joined our group and jumped right in to help lead the way! She has done such an amazing job with forming and running the CSNK2A1 Foundation. For that I (and I think I can say all of us!) could not be more grateful!


We also have found some amazing support from researcher Dr. Rebholz, T-Gen, Simons VIP, business professionals, geneticists and doctors, including the incredible Dr. Volkan Okur and Dr. Wendy Chung. They are passionate advocates and dedicated to our children. With all of these extraordinary people behind our children, a greater understanding will be reached and shared with everyone.


At the First CSNK2A1 Foundation Family Meeting, it was an honor and privilege to be able to meet those that were able to attend in person. I can’t wait to meet more of you in the future! You are not alone and it is my mission that nobody feels that way! I want everyone to know they can reach out to me at anytime for anything! We will all work towards unlocking the mysteries of our adorable children.

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: