Understanding
Okur-Chung Neurodevelopmental Syndrome
Alphabet Soup by Elisabeth Mellinger
When my child was born I immediately knew something was "off" and for the next 13 years I searched for an answer. At the age of 8 we got 2 diagnoses: Generalized Anxiety Disorder (GAD) and Borderline Cognitive Functioning. With no reasonable explanation in our family or medical history, I kept looking, kept insisting to medical professionals that something else was going on, because there were physical characteristics in addition to mental symptoms.
At age 13 we got our answer: a rare genetic condition caused by a mutation to the CSNK2A1 gene resulting in Okur-Chung Neurodevelopmental Syndrome (OCNDS). It explained every symptom, every delay, every mental health struggle. Little did I know it would be just the beginning of finding the appropriate care for my child. You see, at the time, my child was one of less than 200 people in the world with this condition, no medical provider I interacted with knew what to do with the diagnosis I was now presenting to them, let alone any teacher or care provider that would join our team of helpers. So I continued, collecting letters for the alphabet soup that would describe my child so that our team would see familiar diagnoses to help them help us.
There were things in the back of my mind that kept pushing in and I just kept asking, even after I received reassurance. "She doesn't have autism, she's too social! she makes eye contact!" they would say, but still that nagging feeling would linger: yes, but she has never made a friend her own age, she is awkward and needs to be accommodated in conversations, what does that mean? I even asked private assessors to add an ADOS (the standard assessment for Autism Spectrum Disorder) and they would refuse, saying there's no way that was part of her picture. Thankfully we finally connected with a developmental pediatrician who heard me and referred us for an autism assessment at the specialized clinic and low and behold, not only did my child have Autism Spectrum Disorder (ASD), they were severely impaired in some areas AND they had a moderate language disorder (MLD) that would explain their difficulty in following conversation and directions in daily life. They actually removed one diagnosis of Mild Intellectual Disability and replaced it with Specific Learning Disorders (SLD) in math and reading.
It was a game changer! To be heard! FINALLY! My child was not just "slow" and "on their own timeline" . They had concrete struggles with lists of solutions that had worked in the past, but I had so much trouble convincing teachers to try them because we didn't have the official diagnosis. Now they were willing to try. Why now? Why was I not considered an expert before? Why did I need to wait 16 years for validation? I felt relief and anger all at once.
And then another blow, one I dreaded, but did not expect. As we were trialing stimulant medication for ADHD, the things that I thought were "hyper focus" when describing them to the same developmental pediatrician said. "oh, that sounds like a compulsion, have you looked into OCD?" Um, no, that is the dreaded diagnosis. The debilitating diagnosis I have seen almost destroy members of my family. The diagnosis I had been pushing down plopped down in front of me. So another referral came, this time, for the first time, to a psychiatrist. Within 15 minutes we had more letters to add to our alphabet soup: Obsessive Compulsive Disorder (OCD). Thankfully this psychiatrist was also a sleep specialist and I had pushed for an at home sleep study because my child was often tired and talked in their sleep. He took one look at the sleep study (that I had been told was normal) and said, "well, it's not showing signs of apnea, but she's not going into deep sleep, she stays in light sleep all night." YES! I knew that, why? I asked. So he asked my child (who had not uttered a word in the session due to their selective mutism) "when you are going to sleep, do your legs sometimes feel funny?" They nodded emphatically and started writing on their paper: sometimes it feels like I have to readjust my feet a little bit.
Lightbulb: the psychiatrist turns to me and says, "restless leg syndrome" (RLS).
OCNDS - CSNK2A1 gene mutation GAD ADHD ASD SLD - math and reading MLD OCD RLS
At age 13 we got our answer: a rare genetic condition caused by a mutation to the CSNK2A1 gene resulting in Okur-Chung Neurodevelopmental Syndrome (OCNDS). It explained every symptom, every delay, every mental health struggle. Little did I know it would be just the beginning of finding the appropriate care for my child. You see, at the time, my child was one of less than 200 people in the world with this condition, no medical provider I interacted with knew what to do with the diagnosis I was now presenting to them, let alone any teacher or care provider that would join our team of helpers. So I continued, collecting letters for the alphabet soup that would describe my child so that our team would see familiar diagnoses to help them help us.
There were things in the back of my mind that kept pushing in and I just kept asking, even after I received reassurance. "She doesn't have autism, she's too social! she makes eye contact!" they would say, but still that nagging feeling would linger: yes, but she has never made a friend her own age, she is awkward and needs to be accommodated in conversations, what does that mean? I even asked private assessors to add an ADOS (the standard assessment for Autism Spectrum Disorder) and they would refuse, saying there's no way that was part of her picture. Thankfully we finally connected with a developmental pediatrician who heard me and referred us for an autism assessment at the specialized clinic and low and behold, not only did my child have Autism Spectrum Disorder (ASD), they were severely impaired in some areas AND they had a moderate language disorder (MLD) that would explain their difficulty in following conversation and directions in daily life. They actually removed one diagnosis of Mild Intellectual Disability and replaced it with Specific Learning Disorders (SLD) in math and reading.
It was a game changer! To be heard! FINALLY! My child was not just "slow" and "on their own timeline" . They had concrete struggles with lists of solutions that had worked in the past, but I had so much trouble convincing teachers to try them because we didn't have the official diagnosis. Now they were willing to try. Why now? Why was I not considered an expert before? Why did I need to wait 16 years for validation? I felt relief and anger all at once.
And then another blow, one I dreaded, but did not expect. As we were trialing stimulant medication for ADHD, the things that I thought were "hyper focus" when describing them to the same developmental pediatrician said. "oh, that sounds like a compulsion, have you looked into OCD?" Um, no, that is the dreaded diagnosis. The debilitating diagnosis I have seen almost destroy members of my family. The diagnosis I had been pushing down plopped down in front of me. So another referral came, this time, for the first time, to a psychiatrist. Within 15 minutes we had more letters to add to our alphabet soup: Obsessive Compulsive Disorder (OCD). Thankfully this psychiatrist was also a sleep specialist and I had pushed for an at home sleep study because my child was often tired and talked in their sleep. He took one look at the sleep study (that I had been told was normal) and said, "well, it's not showing signs of apnea, but she's not going into deep sleep, she stays in light sleep all night." YES! I knew that, why? I asked. So he asked my child (who had not uttered a word in the session due to their selective mutism) "when you are going to sleep, do your legs sometimes feel funny?" They nodded emphatically and started writing on their paper: sometimes it feels like I have to readjust my feet a little bit.
Lightbulb: the psychiatrist turns to me and says, "restless leg syndrome" (RLS).
OCNDS - CSNK2A1 gene mutation GAD ADHD ASD SLD - math and reading MLD OCD RLS
Those are the letters of our alphabet soup. When you are rare, or in our case ultra rare, sometimes one diagnosis isn't enough. It has been my job to dig and find all the letters that describe my one extraordinary kid so that they can live the best life they possibly can. No one else can do that for them.