When were you diagnosed with RP?
It wasn’t until I was a freshman in college that I was informed I probably have RP, and it wasn’t until I was 20 that I was formally diagnosed.
When did you first begin to struggle with your vision?
My earliest memory of struggling with vision is from around the age of 12 or so. One night my brothers and I snuck out of the house to go pool hopping – an exhilarating journey where you swim in all your neighbors’ pools late at night. I was struggling to keep up with their pace from one pool to the next because I was struggling to see at night. Before this, I have no recollection of ever struggling to see.
If RP is hereditary, why were you not aware you had it?
There is no history of blindness in my family. Both my mom and dad have a recessive gene for RP which is masked by the dominant gene. They both passed on their recessive gene to me giving me two recessive RP genes. Thanks Mom and Dad!
What was the process of being diagnosed like?
After my optometrist informed me that I probably have RP, I did nothing. He told me that there wasn’t a cure and nothing anyone could really do but provide me with more information. So, not having a car in college at 18, I just kept on living.
2 years later, with the help of my brother, I found out about a treatment for RP but only for a specific gene – RPE65. My brother, Jake, sent me to a retinal specialist an hour and a half away in northern Kentucky. After concluding I have RP, I sent a saliva sample for genetic testing to see if my RP was located on the RPE65 gene. If it came back as positive that meant I could be treated. If negative, there would be nothing they could do as of yet.
It came back negative. The genetic testing was only for that one gene because full field genetic testing can be very expensive. However, the retinal specialist that I saw informed me of a doctor for the University of Kentucky that was doing free genetic testing as part of a study. I sent out another saliva sample and found my RP is located on the USH2A gene.
Where are you at now with your vision?
I am now 22 years old and finishing my last semester of college. During the day, so long as I wear my contacts, I see like anyone else. I may not have as good peripheral vision as everyone else, but you would have no idea I had an eye disease if you only saw me during the day. Last summer (2019) I gave up driving at night. If I needed to drive at night (for an emergency let’s say) I would probably be fine to get to and from where I need, but, ultimately, driving is an unnecessary risk for myself and others. I don’t see much around me at night, but I can still see what is directly in front of me/what I am focusing on.