What It Looks Like

For a portion of last year and all of this year so far, I’ve been doing some writing about my life.

If you follow me personally on social media, you know that last fall I underwent a very invasive procedure for the purpose of experimentally attempting to cure a genetic disorder that I have.

Yeah, I know. Thats a lot to understand, especially since I jammed it into one sentence like that. The simple version is this: I was born with a genetic vision disorder called achromatopsia. I’ve talked about it a little bit before HERE and HERE. The short description is that I’m very visually impaired. No driving, limited mobility in certain situations, special equipment needed,, etc. Doctors and researchers are trying to fix genetic disorders like mine with a groundbreaking treatment called gene therapy. I’ll talk more about my experiences with this in the coming months.

For now, I think I just need to answer your questions about me, my life, how it’s impacted by achromatopsia now and how it has been impacted in the past, and clear up some misconceptions. It’ll take several (or many) posts. I dont know if you’ll like reading about it or not.

Today, I’ll tell you in a nutshell (and in regular English) what achromatopsia is and what it looks like to open these eyes every morning.

Achromatopsia is…

a genetic vision disorder. Both of my parents were carriers but neither one has/had achromatopsia. Neither of my siblings have it either. I always tell them that this was my first act, as an older sibling, of protecting them and showing my love for them. I remember it like it was yesterday. My little zygote self, humbly scooping up all the bad genes and insisting I take one for the future team. I’m pretty sure thats how genetics work? So,, I’ve been visually impaired since birth.

But, what does that mean?

The main symptoms of achromatopsia are:

Photosensitivity. This is the most debilitating of all of the symptoms. The sun and bright lights of any kind are all my mortal enemies. Every light causes a substantial glare. Imagine driving or skiing on a snow-covered Earth with the sun about a quarter of the way to its apex and you’re facing it. Everything is white. Everything glows. This is outside every time for a person with achromatopsia. Even in the shade. Even when its overcast.
Low visual acuity. You’re probably familiar with visual acuity if you have ever gone to an optometrist. Your visual acuity is the measure of the sharpness of your vision. It’s your 20/X number. I can explain to you what those numbers mean if you want, but for the sake of keeping it short, I won’t. My visual acuity is 20/425 (left) and 20/375 (right) and can be corrected as far as 20/200 in both eyes. Thats pretty low visual acuity. Vision lower than 20/200 is considered “legally blind.” I DETEST that combination of words, but that’s for another post.
Colorblindness. People with achromatopsia all have some level of colorblindness. I see things in shades of black and brown and white. People are pretty obsessed with this one. The most common question I’m asked is, “So, when you look at X, what color is it?” I’m all about advocacy and educating people, but 40 years of this question has gotten old. Older than old. I’m going to tell you the answer right now. Ready? What do I see when I look at X? I see black, white, or brown. Thats it. That’s always the answer.