The last of the human freedoms: to choose one’s attitude in any given set of circumstances, to choose one’s own way. And there were always choices to make.
Victor Frankl, Man’s Search for Ultimate Meaning
COPB2 gene mutation is rare, there are very few cases reported as of today, with my daughter being one of them. After seeking for a clinical diagnose of her early development delay issues, the answer finally surfaces from the genetic sequencing results, she had a de novo (means it is new, not inherited) COPB2 gene mutation.
With the intention to better helping her as well as some curiosity into the gene universe, I started to search internet and read articles related to this gene, hope to answer many questions I had, and seek a cure for this mutation. Around three years ago, the clinical significance of COPB2 gene mutation is still unknown. The information on this gene is also limited and fragmented on internet. Overtime, I start to collect more knowledge and establish a better understanding about many aspects of this gene.
Although genetic mutation is the root cause of almost all clinical issues, itself cannot be easily treated. Moreover, as most of such mutations have a direct impact on newborn’s development of brain and peripheral nervous system in the first few years of life, it is also difficult to prevent or stop such impact from happening. Time is of the essence, looking back, an important lesson I learned is, instead of delving too many efforts on trying to fix the gene side of issues and seek an answer for why, it is more important and practical to intervene as early as possible and focus more on treating the specific symptoms.
During this journey, we are blessed to received so many kindnesses and helps from people all around, therapists, doctors, teachers, researchers, friends, and other families who also strike to help their kids in similar situations. These connections enlighten the road and fill the journey with its own meanings.
Through this website, I want to share the knowledge I learned during this process, as well as personal experiences on several different treatment approaches attempted. I am not from a medical major so some content might be not very accurate. Still, I hope it will provide value for even a small group of audience.
I also hope this website can help to connect people and families who experience the similar COPB2 gene mutation issues. As a group, we can work together to create a better solution in days to come.