Reflections on Rare Disease Day
by Amber Reynolds
As today is Rare Disease day, I wanted to share my sweet Harper’s story again. To honor this day I want to highlight her very rare syndrome, Okur-Chung Neurodevelopmental Syndrome.
Many of you are aware of our journey and trying to find a diagnosis for Harper. We knew within Harper’s first year that she was “different,” she was delayed in her milestones and her head circumference was in the lowest percentile. After many different doctors visits, it was time that we sought out to specialists to find out what was going on with Harper. After she turned one we had gone through many possible syndromes, surgeries, numerous genetic testing, MRI’s, EEG’s, neurology, speech, physical therapy, occupational therapies, and no one had any answers for us.
Then on a follow up genetic appointment at Texas Children’s in July of 2016 Brian and I were told that Harper was 1 out of 10 in the WORLD, with this very rare non inherited syndrome. Okur-Chung Neurodevelopmental Syndrome, also known as CSNK2A1. We were shocked, relieved, and had lots of questions. What does this mean for Harper? What are the other 9 children like?
We were then connected to Dr. Okur and Dr. Chung who connected us with the other families. We were fortunate to have had a conference in New Jersey this summer where we were able to meet 16 of the families and kids. Now there are over 65 kids in the world and the number keeps growing. I’m so proud to be apart of this Okur-Chung Family and I wouldn’t have it any other way. Every year we learn more about the syndrome and who knows what the future holds for our sweet Harper.
As today is Rare Disease day, I wanted to share my sweet Harper’s story again. To honor this day I want to highlight her very rare syndrome, Okur-Chung Neurodevelopmental Syndrome.
Many of you are aware of our journey and trying to find a diagnosis for Harper. We knew within Harper’s first year that she was “different,” she was delayed in her milestones and her head circumference was in the lowest percentile. After many different doctors visits, it was time that we sought out to specialists to find out what was going on with Harper. After she turned one we had gone through many possible syndromes, surgeries, numerous genetic testing, MRI’s, EEG’s, neurology, speech, physical therapy, occupational therapies, and no one had any answers for us.
Then on a follow up genetic appointment at Texas Children’s in July of 2016 Brian and I were told that Harper was 1 out of 10 in the WORLD, with this very rare non inherited syndrome. Okur-Chung Neurodevelopmental Syndrome, also known as CSNK2A1. We were shocked, relieved, and had lots of questions. What does this mean for Harper? What are the other 9 children like?
We were then connected to Dr. Okur and Dr. Chung who connected us with the other families. We were fortunate to have had a conference in New Jersey this summer where we were able to meet 16 of the families and kids. Now there are over 65 kids in the world and the number keeps growing. I’m so proud to be apart of this Okur-Chung Family and I wouldn’t have it any other way. Every year we learn more about the syndrome and who knows what the future holds for our sweet Harper.
Harper is still non verbal and delayed but she has made leaps and bounds of progress! We are so lucky to have made friends who are on this journey with us!
