Blog Layout

We Were Never Alone, You’re Never Alone

Mar 23, 2023

OCNDS Awareness Day Reflection by Melanie Kretas, OCNDS Parent 

October 15, 2010, changed our lives forever. Not only did I become a parent to our second child, but we also became parents to a child with significant and unique special needs.


A few weeks after Ava was born we noticed her breathing sounded different as well as her eating habits were different. Things just didn’t feel right. Her tiny body made sounds we had never heard before and her awkward body movements were starting to alarm us. I spoke with doctors and they asked that I videotape Ava during these odd episodes. I taped a few of Ava’s episodes and brought them to be seen. In what felt like a blink of an eye (a few days later on a Saturday) we were in the operating room at Boston Children’s Hospital.


They thought she had an obstruction in her airway. In fact, one of the many things that crossed their minds was a raised hemangioma (birthmark) just like the one on her older sister's arm. I was shocked to hear that they thought this could actually be in her throat! We quickly learned there was an obstruction in her airway. Her epiglottis did not work properly. Her Epiglottis (flap of cartilage) stayed covering her windpipe versus moving up and down to allow food and air to pass through safely. Ava needed surgery to fix her malformed epiglottis. This surgery was called a Supraglottoplasty. Unfortunately, we will never know how successful this surgery was for Ava, as we were still dealing with many breathing and feeding difficulties.


Throughout this period of time, Ava also had a Modified Barium Swallow. This would show us a deeper look into Ava’s eating and swallowing. At 5 months old, in March of 2011, we were told that Ava did not pass this study. They pulled us aside and let us know we wouldn’t be leaving the hospital that day to go back home. We were told it wasn't safe to go home with Ava, and that she needed a feeding tube inserted into her stomach ASAP. Every time she drank something, it showed the liquids going into her lungs, not her stomach. She was diagnosed with silent aspiration and pharyngeal stage dysphasia. Her body went into distress every time she drank fluids.


Fast forward to a week later, we finally left the hospital. We walked out of that hospital feeling like our lives had just been flipped upside down. We felt petrified and alone, but our journey had just started.


After endless appointments with Neurology, GI, genetics, Endocrine, ENT, pulmonology, nutrition, and hematology, we still were on a hunt for answers. Countless labs, scans, procedures, going back and forth with our insurance company that didn’t want to cover Ava’s labs that were being sent off to California to a special lab for her whole genetics sequencing. We were exhausted, to say the least.


We finally received Ava’s genetic report. Ava’s future was being held in my hands, on a piece of paper from the lab. No one knew what these jumbled-up numbers and letters amounted to. They told me they didn’t know what her deletion meant and if it was significant or not. They told us we’d hopefully find out one day. We were determined our journey for answers didn’t end here, we were to keep searching for answers for our daughter and her future.


A year later, In September of 2017, Ava was almost 7 years old when we experienced our first real glimpse of hope. Dr. Okur reached out to my family. He was kind, and patient and answered as many questions as he could. In fact, Ava was the 2nd patient to be discovered in the world with this rare genetic disorder, Okur-Chung Neurodevelopmental Syndrome. There were only a few more kids discovered at this time, but Ava was one of them! We now had a direction to follow and navigate and now an extremely small community with families just like us, to meet! That day will forever be etched into my heart.


We were now part of a small, wonderful and rare community. Finding the OCNDS community was like finding a second home and family. We finally found other families who get it, who understand what we are going through and we all support each other. I got to make lifelong friendships and beautiful long-lasting memories with them as well.


Thanks to Simons Searchlight and the family that founded the CSNK2A1 foundation, we’ve been able to attend conferences and meet with the researchers who are studying this syndrome. They’ve given us hope for treatments that can improve our children’s quality of life.


Rare is not bad nor scary, in fact, it means you’re one of a kind. I thought I knew what rare was until Ava came into our lives, along with the entire Okur Chung community.


Ava was diagnosed with Okur-Chung Neurodevelopmental Syndrome at a very young age, in fact, she was the second patient to be discovered. She showed me what rare looked and felt like.


I am not the same person I was before we found out Ava’s diagnosis. We did not plan on this life. Her diagnosis tore me into pieces, then built me back up into a better human. We were never alone, you’re never alone.

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: