Understanding
Okur-Chung Neurodevelopmental Syndrome
We Were Never Alone, You’re Never Alone
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.
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.