Choroideremia (CHM) is known to occur in roughly 1 out of every 50,000 to 100,000 people worldwide. It is so rare that even researchers struggle with the lack of available clinical data.
When I had my genetic test done, I remember the hospital telling me that only a few hundred people in Korea had ever been tested for the same condition at that institution. So no matter how much I study this disease and create videos about it, I know only a very small number of people will ever come across them. But I have never once thought, โThereโs no point in making this video since almost no one will watch it.โ Now that the video is finished and uploaded, I do feel a little empty, as if Iโm the only person in the world with this condition โ but not even once during the entire process did I doubt the value of creating this video.
Humans have about 20,000 genes responsible for producing various proteins. The CHM gene is just one of them. The fact that a tiny mutation in just one out of those twenty thousand genes can slowly take away a personโs vision feels incredibly unfair. But I am genuinely grateful for one thing: we know that mutations in the CHM gene cause this disease โ and I know that this gene is where my own mutation lies. Once the cause is known, developing a treatment becomes a matter of time. As patients, the best we can do while waiting is to understand our condition well, take care of our mental health, and preserve our remaining vision for as long as possible.
If even one person with choroideremia watches the video above and gains a clearer understanding of this condition, that alone makes it worthwhile.
Thank you for watching.