The Questions I Have After Being Diagnosed With a Rare Disorder

Most will never be able to notice that sometimes I struggle to see. It’s a daily occurrence that believe it or not, took me a long time to notice was abnormal too.

One month before I turned 14, I was lying awake in bed, staring around the room. My entire visual field was covered in millions of minute black, white, and gray dots creating an image similar to that of a staticky television screen. After about a half hour of being in bed, I watch transfixed, as they formed a dazzling pattern resembling hundreds of pairs of owl eyes — yes, owl eyes. The eyes would go away, leaving the dots, as well as colored clouds. Suddenly, a thought hit me, “What if this isn’t normal to everyone?” “No, I think everyone sees this; they’ve never said otherwise,” I assure myself. Still, I Google it anyway the next evening, which lead to my official diagnosis over a month later.

While I was waiting for my scheduled appointment with a neuro-ophthalmologist, my life continued almost as before, but now I was armed with a Genetic and Rare Diseases (GARD) link, as well as a less-informative Wikipedia page on visual snow syndrome (VSS). I knew something with my eyesight was amiss, but nonetheless I tried my best not to think about it. A week later, I came into my science class and was told we had to use the microscopes during the day’s lesson. When it was my group’s turn, I walked over with them and peered in. I was shocked to find my spots had begun to move about violently and rapidly in the bright glow of the microscope, and there were floaters across my visual field — something I rarely saw. The spots were with me day and night, but the floaters only showed themselves when I looked at something with high contrast. It wasn’t the brightness causing an increase in spot movement that surprised me. It was simply the fact that until that moment, I had planned to become a large animal surgeon, and I knew vet school would include many, many examinations of specimens under a microscope. Standing there, peering intently into the microscope, I suddenly became flustered that I was the only one who couldn’t see the specimen. Red-faced, I had to rely on my other group members to relay what we were supposed to be looking for on the Petri dish.

Yes, I know, many people in the rare disease community have had to focus on sculpting their lives around their disease, I knew this even before it happened to me. However, I had my whole life planned out already, and the shock of knowing I would have to rethink everything, just because I couldn’t see into a microscope was hard at first to get over.

Now, nearly two months after my official diagnosis, I am wondering how this has gone unnoticed for so long. As far as I can remember, I have seen visual snow, as well as experienced an abundance of other symptoms that go along with VSS. Since it’s genetic, my parents have also shown signs of having visual snow. As a child, my father had migraine-induced visual snow, and my mother still has visual snow when under stress to this day.

To me, not knowing about my rare disease for so long raises questions about vision care in general around the world.

How did this get missed?

I have 20/20 vision that is constantly being obscured by dots appearing in my visual field. Shouldn’t there be more questions being asked during eye exams, instead of just reading letters off of a chart?

We want to hear your story. Become a Mighty contributor here.

Getty Images photo via AntonioGuillem