Updated: Jul 15
We left off with all of the upsets and let downs that seemed to be none stop for me. It wasn't enough that I had a deep feeling of a letdown but here I am now waiting for these results that seemed to take forever. If anyone has ever had a genetic test for any reason you are given a code to create an account so that you can track the process of the submitted sample. That's great and all but for someone like me the wait is HORRIBLE. I am the type of person that as soon as I order something from a website, LITERALLY 15 minutes later (more like 5) I am at the mailbox waiting on my package.
Walking into this appointment I felt my knees in my stomach and stomach in my chest. It felt as if all of my air was slowly being squeezed out of me and I had no one to care (clearly I did) Once the nurse called me to the back FINALLY she had me sit at a chair and it was then I knew she was about to deliver either the best news ever or the worst, I felt like I was going to vomit and UMMMM well you know this part, all at once I felt light-headed and dizzy, she knocks on the door and I nearly fell ALL THE WAY OUT!!!! I have NEVER squeezed my buttocks (in my forest Gump voice) SO DAMN HARD. If you are laughing SHAME ON YOU!!! This was serious business I knew if she said the wrong words I was going to jail, my cellmate and I would be best friends, as long as she kept her ass on her bunk. I knew I was gonna have to establish a "rep" in the slammer so I decided my name would be "Lay Low" YEPPPP LAY LOW. Now that I had my prison life worked out she said "Ok ma'am, do you know why your here today?) My mind at that moment wanted to say" Yea to go to jail if you don't tell me my results." But I uttered the words "yes" and she said ok BUT FIRST were going to do this eye exam and have to dilate your eyes twice and also were gonna do two other eye exams. WAIT WAIT ONE DAMN MINUTE!!! You mean to tell me I almost died in this chair for you to be the TECH!!! She giggled softly and said "aww no ma'am I am just doing your eye exams your doctor will see you in another room. I was beyond ready to go to jail. I was on my email list looking for the email of a contact that is a retired public servant. (SHE'S A COP) I put that in there for the people in the back, you all know them.
After all of the 5 extremely long eye exams are done I am so tired that by the time the ACTUAL doctor comes in I was weary and delusional. After doing a few of his own exams and looking into my eyes he wanted to discuss the findings. He sat back in his chair and said that he was shocked that I in fact did not have RP (Retinitis Pigmentosa) but instead I had what was called Choroideremia. I was relieved that it wasn't RP and that maybe this new eye condition was better because none I had something that a little surgery could fix, my vision would be restored and I would be made whole again. But this was quickly overshadowed by the fact that he said " What is more complexing is that this eye condition was a male dominated disease and that it was more prevalent in Caucasians and Asians." I immediately sat up and said," YOUR TELLING ME I WAS BORN A MAN!!!!" For a split second through his laughter, there was a sheer terror that I had been born male and for some reason, my parents made me a girl. I was confused and lost he said "No a male-dominated gene just means that it is a male carrier gene and that although rare a female can be a carrier, she would not have any symptoms or be affected. I thought ok this was better than RP, until I asked him "What are my treatment options?" He looked me straight in my eyes and said, unlike RP, from what I have read on this condition in this short time, there is no buffer, it leads to total blindness. The air was knocked out of me, it was as if I could not hear anyone or anything, time stood still, and the only thing I do remember hearing was this horrible ringing in my ear as if a bomb had just gone off.
There the silence was extremely loud and painful and it was heavy, suddenly I could feel my heart beating in a way I had never felt before, my chest felt as if I had five XL elephants sitting on my chest playing spades, and one of them had just reneged. My eyes focused on the wall in front of me as things started to slowly come back to reality, I asked my doctor so what was my odds of going blind, since I am a female, this is a male gene, and again he said "Well from what I have studied on this it only ends in one way no matter your sex." Here it was the prayer, the hope that I was holding onto, the idea of being fixed and cured had now just taken everything from me, the thought of not being able to see my kids as they got older or the thought of never being able to fully see or see my grandkids at all one day, was enough to ignite a scream from within that bellowed out of stomach that it knocked me out of my seat and onto the floor. At that moment I had no words, no thoughts, it was only me and these eyes of mine. These eyes, the eyes I had inherited from my father, the same blind eyes he had were now mine. I became angry, I was enraged and I started saying "He didn't leave me SHIT. Debt, bills, and stress, no goodbyes, no last hugs, and kisses, but these eyes of his. This anger was deep and then I felt a hand, a comforting hand that helped me up, and opening my eyes my doctor had tears in his eyes, his nurse her eyes were red as well, he said we are going to figure this out together, I am going to reach out to everyone I know and we are going to find a way to beat this. But for me there was no beating this, there was no hope, the fuck I wanted to hope for when he was sighted, he didn't have to walk in my shoes. He encouraged me to contact the company that processed my genetic results and to speak with the geneticist who worked on my report to get a more in-depth detail about the findings and what they all meant moving forward.
After that, he went over my images and then told me that the reason it was hard for me to see in the dark was due to the CHM(Choroideremia). My peripheral vision was gone, and that there were early stages of central vision loss. There was no definitive timeline of when I would lose my eyesight as with CHM, it affects everyone differently and there was no way to track the progression of this, which made it even worse. He encouraged me to go home and to reach out to programs that offered help to low vision or blind people that needed help adapting to vision loss, learning new ways of life, and other techniques of living. He also wanted me to do as much research as I could about CHM and for female carriers. I was given paperwork that said I was legally blind, I was advised to no longer drive at night and that my license would note that. I walked out of that office into a world that now looked brand new. I had to gather myself to be able to drive home and be able to keep my shit together long enough to make it past my kids and into my bedroom. Just as I was about to drive off, my phone rang and it was my spouse. "Babe, how did it go? What did he say?" How could I say anything when I couldn't speak, my eyes filled with water and through what felt like a massive ball in my throat I stuttered "I'll tell you when I get home", then my thoughts started to race and I started to cry and my emotions took over, I was on the road driving and about to get on the highway and here I was balling my eyes out, trying to find the way to tell it all without saying anything. Finally, I made it home, and just a few minutes later Ricky came walking in from work early. I remember looking up with my eyes filled to the brim with tears and just letting it all come out, there was nothing to hold back, my anger, my frustrations all came out and I was stuck.
These are the actual images of my eyes. All of the dark spots are places where there are no visual fields. These were taken on October 6, 2020. I will upload the newer images in part 3 and in part 4.
Again let me stress that this is my journey and everyone's journey is different and our stories are not the same. Facts may not be accurate but remember this is the first meeting with my doctor who had not seen a patient with this condition in his 17 years of practice, I was and currently the ONLY person in this practice with 19 providers and hundreds of other patients. I am the lone ranger.
The Talk- Part 3
Confronting my fears and telling my family, handling my anger while trying to fight to live. Part three may have triggers for some that struggle with depression or anxiety. If you have struggled with the loss of a loved one that left you with unanswered questions, THIS MAY BE TRIGGERING. Stay tuned as things reach their boiling peak, and I do what most think is the most unimaginable.