Understanding
Okur-Chung Neurodevelopmental Syndrome
The Fight Continues, But I Am Not Giving Up
By Elisabeth Mellinger
From the day Matilda was born, I had a sense that something was different about her. As she grew, very slowly, I kept asking doctors about my concerns, but they would always push them aside with comments about how cute she was, and how she was just a late bloomer and to be patient. While I completely understand and value the idea that each child needs to do things in their own time, all of those words meant to minimize my concerns only added to my anxiety and worry that my child needed help and was not getting it. Every milestone came right at the end of the window of “normal” so I was told not to worry. Her weight gain and growth were slowly creeping down the chart, but since she was still on it and she was born weighing almost 9lbs, they were not concerned. She was healthy, she was sweet, she was cute, she was fine. But still my instincts told me: she needs help.
When her 2 year birthday rolled around and she still was not babbling or making words, finally the doctors listened and sent us to early intervention for speech therapy. This began our journey navigating a system that is very difficult to navigate. We had speech therapy 2 times a week and sounds started coming out. Progress in other areas was still slow and I fought for PT and OT assessment through the early start program, but again was told she wasn’t far enough behind. I was filled with the dread that my child needed help to keep progressing, but first she would need to fall further behind. There is nothing more terrifying to me than watching my child fall between the cracks and wondering at what point she will be deemed far enough behind to receive help. What happens to her sense of self in the meantime, as she watches other kids her age literally run and talk circles around her on the playground? When she sits at the craft table unable to hold a crayon while the other kids colour and draw magnificent stories and glue glitter onto paper shapes they’ve cut out. Matilda spent a lot of time sitting and watching, observing the world without participating. She still does, she watches and sees everything. With the help of Matilda’s grandma, who is an educator, and saw the struggles she was having, we were able to start private OT for her at the age of 4. This helped her so much! She finally started making progress and even catching up to her age level. We still struggled with multiple meltdowns a day, but it felt like now we had someone else on our side. Through our OT we heard of an opportunity to participate in a study that Dr. Alysa Marco was doing to find a biological basis for Sensory Processing Disorder (SPD) as a stand alone diagnosis separate from autism and ADHD. We jumped at the chance, since this was basically the situation we were in with Matilda. She had developmental delays, but not significant enough to be flagged, and she had SPD, but no one at the time recognized it as a diagnosis, in fact it is still not recognized as a diagnosis, only a symptom of other conditions. Through this study, Matilda received an IQ test and the results floored me. Matilda was below the average range, but above a score required to have an intellectual disability. She was IN the crack. Suddenly my world came crashing down around me and yet everything was crystal clear. For all the doctors who called her “bright and cute” I now had evidence that NO! she’s struggling! Thanks to this IQ test, we were able to qualify for a neuro-psychological assessment through our insurance, and thanks to our participation in the study, we were able to get in to see Dr. Marco quickly.
Dr. Marco started us down the journey of genetic testing. She did a micro-array and while some duplications and deletions were found, none were of significance. We were about to move to Canada, and she counselled me to immediately find someone to do a Whole Exome Sequencing (WES) to look for another genetic cause to Matilda’s issues. This began my 4 year journey with the genetics wait lists that are painfully common in Canada. Every 6 months I would call, and the wait list grew from 18 months, to 2 years, to 3 years (this was after a year of trying to convince the pediatrician to make the referral in the first place). Finally I started panicking, we had been on the list for 2 and a half years, and my husband had just been offered a job in a different province, which meant we were moving at the 3 year mark of our wait. I was not about to start at the bottom of another wait list to see a geneticist in a different province. I desperately pleaded with the nurse, but also committed to travelling back if we needed to, but we had to stay on the wait list, we were not going to start over. She agreed and a month before we were to move, we got an appointment, for 2 months later…in the middle of the road trip we were taking to move and be able to accompany Matilda’s dad to his summer festivals. So I begged the scheduling nurse, told her our situation, made it clear that we would fly back for the day if we had to (and we had found a very expensive itinerary to do so) and a week later….a cancellation was made…for the day before our departure date. We took it!
Because we were moving out of the province, the geneticist had to be a little savvy. She knew that it was difficult to get approval for WES and would take longer, and that the provincially funded health insurance could use our move as an excuse to delay the approval and then reject it when they caught wind of our new address when we applied for coverage in our new province. So they did a developmental panel, thinking it was the most likely place they’d find something, and then if nothing was found, they could request that the lab then open up the result to reveal WES, since that particular lab actually sequenced the Whole Exome for every sample, but only searched the necessary panels to report to the geneticist. So even though Matilda had short stature and some other features outside of the developmental panel, we started there. Nothing came back (which was good information for the CSNK2A1 foundation, since they were able to contact the lab and make sure that they began to include the CSNK2A1 gene on their developmental panel!) so we opened it up to WES. And then after 6 months of waiting, we had our answer: Matilda has OCNDS.
It explains everything. It explains why she is so small for her age, why her bone age is 2 years behind her chronological age, why she has a low IQ and trouble keeping up in school, why she has SPD, why she is constantly sick. I looked at this website and saw for the first time kids that looked like my daughter, when she had never quite looked like anyone in the family, even though she did. And it finally gave me something to write on the forms when I was asking for help and services for her. And for the first time; we were approved. It’s possible that also for the first time, she was far enough behind, and that makes me feel really sad. Because after we moved to Canada, we were no longer able to afford to give her weekly OT, and the OT we found, didn’t follow the same program we had been using, and I didn’t have the energy for another fight, so she struggled for 5 years and fell further behind. Now that we have services, she is getting OT every other week with additional psychological support for anxiety. It has helped tremendously AND she needs more help. Each contract is only 6 months long, so the fight continues, but I am not giving up. And neither is Matilda. After 14 years of fighting, I am so tired, but I know nothing else, so I have to keep going.
Being connected to others with OCNDS through the foundation has given me new strength and given us a community. Matilda is proud of her genetic diagnosis and has started advocating for herself by speaking about it openly. I can’t even imagine what the future will look like for her, but I hope that my work on the Parent Advisory Board will help make that future a little brighter and more inclusive for her and all those with OCNDS.
From the day Matilda was born, I had a sense that something was different about her. As she grew, very slowly, I kept asking doctors about my concerns, but they would always push them aside with comments about how cute she was, and how she was just a late bloomer and to be patient. While I completely understand and value the idea that each child needs to do things in their own time, all of those words meant to minimize my concerns only added to my anxiety and worry that my child needed help and was not getting it. Every milestone came right at the end of the window of “normal” so I was told not to worry. Her weight gain and growth were slowly creeping down the chart, but since she was still on it and she was born weighing almost 9lbs, they were not concerned. She was healthy, she was sweet, she was cute, she was fine. But still my instincts told me: she needs help.
When her 2 year birthday rolled around and she still was not babbling or making words, finally the doctors listened and sent us to early intervention for speech therapy. This began our journey navigating a system that is very difficult to navigate. We had speech therapy 2 times a week and sounds started coming out. Progress in other areas was still slow and I fought for PT and OT assessment through the early start program, but again was told she wasn’t far enough behind. I was filled with the dread that my child needed help to keep progressing, but first she would need to fall further behind. There is nothing more terrifying to me than watching my child fall between the cracks and wondering at what point she will be deemed far enough behind to receive help. What happens to her sense of self in the meantime, as she watches other kids her age literally run and talk circles around her on the playground? When she sits at the craft table unable to hold a crayon while the other kids colour and draw magnificent stories and glue glitter onto paper shapes they’ve cut out. Matilda spent a lot of time sitting and watching, observing the world without participating. She still does, she watches and sees everything. With the help of Matilda’s grandma, who is an educator, and saw the struggles she was having, we were able to start private OT for her at the age of 4. This helped her so much! She finally started making progress and even catching up to her age level. We still struggled with multiple meltdowns a day, but it felt like now we had someone else on our side. Through our OT we heard of an opportunity to participate in a study that Dr. Alysa Marco was doing to find a biological basis for Sensory Processing Disorder (SPD) as a stand alone diagnosis separate from autism and ADHD. We jumped at the chance, since this was basically the situation we were in with Matilda. She had developmental delays, but not significant enough to be flagged, and she had SPD, but no one at the time recognized it as a diagnosis, in fact it is still not recognized as a diagnosis, only a symptom of other conditions. Through this study, Matilda received an IQ test and the results floored me. Matilda was below the average range, but above a score required to have an intellectual disability. She was IN the crack. Suddenly my world came crashing down around me and yet everything was crystal clear. For all the doctors who called her “bright and cute” I now had evidence that NO! she’s struggling! Thanks to this IQ test, we were able to qualify for a neuro-psychological assessment through our insurance, and thanks to our participation in the study, we were able to get in to see Dr. Marco quickly.
Dr. Marco started us down the journey of genetic testing. She did a micro-array and while some duplications and deletions were found, none were of significance. We were about to move to Canada, and she counselled me to immediately find someone to do a Whole Exome Sequencing (WES) to look for another genetic cause to Matilda’s issues. This began my 4 year journey with the genetics wait lists that are painfully common in Canada. Every 6 months I would call, and the wait list grew from 18 months, to 2 years, to 3 years (this was after a year of trying to convince the pediatrician to make the referral in the first place). Finally I started panicking, we had been on the list for 2 and a half years, and my husband had just been offered a job in a different province, which meant we were moving at the 3 year mark of our wait. I was not about to start at the bottom of another wait list to see a geneticist in a different province. I desperately pleaded with the nurse, but also committed to travelling back if we needed to, but we had to stay on the wait list, we were not going to start over. She agreed and a month before we were to move, we got an appointment, for 2 months later…in the middle of the road trip we were taking to move and be able to accompany Matilda’s dad to his summer festivals. So I begged the scheduling nurse, told her our situation, made it clear that we would fly back for the day if we had to (and we had found a very expensive itinerary to do so) and a week later….a cancellation was made…for the day before our departure date. We took it!
Because we were moving out of the province, the geneticist had to be a little savvy. She knew that it was difficult to get approval for WES and would take longer, and that the provincially funded health insurance could use our move as an excuse to delay the approval and then reject it when they caught wind of our new address when we applied for coverage in our new province. So they did a developmental panel, thinking it was the most likely place they’d find something, and then if nothing was found, they could request that the lab then open up the result to reveal WES, since that particular lab actually sequenced the Whole Exome for every sample, but only searched the necessary panels to report to the geneticist. So even though Matilda had short stature and some other features outside of the developmental panel, we started there. Nothing came back (which was good information for the CSNK2A1 foundation, since they were able to contact the lab and make sure that they began to include the CSNK2A1 gene on their developmental panel!) so we opened it up to WES. And then after 6 months of waiting, we had our answer: Matilda has OCNDS.
It explains everything. It explains why she is so small for her age, why her bone age is 2 years behind her chronological age, why she has a low IQ and trouble keeping up in school, why she has SPD, why she is constantly sick. I looked at this website and saw for the first time kids that looked like my daughter, when she had never quite looked like anyone in the family, even though she did. And it finally gave me something to write on the forms when I was asking for help and services for her. And for the first time; we were approved. It’s possible that also for the first time, she was far enough behind, and that makes me feel really sad. Because after we moved to Canada, we were no longer able to afford to give her weekly OT, and the OT we found, didn’t follow the same program we had been using, and I didn’t have the energy for another fight, so she struggled for 5 years and fell further behind. Now that we have services, she is getting OT every other week with additional psychological support for anxiety. It has helped tremendously AND she needs more help. Each contract is only 6 months long, so the fight continues, but I am not giving up. And neither is Matilda. After 14 years of fighting, I am so tired, but I know nothing else, so I have to keep going.
Being connected to others with OCNDS through the foundation has given me new strength and given us a community. Matilda is proud of her genetic diagnosis and has started advocating for herself by speaking about it openly. I can’t even imagine what the future will look like for her, but I hope that my work on the Parent Advisory Board will help make that future a little brighter and more inclusive for her and all those with OCNDS.
Matilda is a kind and joyful girl who loves animals, swimming, dressing up, singing, and dancing. She teaches me how to be present every day and see the good in things. She deserves to live the best life that she possibly can. My hope is that by participating in the Natural History Study at Simons Searchlight, and encouraging others to do the same, more information will be made available to researchers, doctors, and families to support people with OCNDS and maybe soon, there will be targeted treatments available to help lessen symptoms. My hope is that more adults will be found, so that we can have a bigger picture of what life will look like going forward.