so recently, i’ve been asked “why havent you talked about your testing process yet?” or “does your blog talk about your testing process?”. to be honest.. i just have not been ready to really discuss my testing process. I feel as if when i do, i am finally admitting that i am positive for HD. in my previous blogs, i have said “i have HD” but never have i said that i am POSITIVE for HD. This is something mentally, i still do not know if i have accepted. i talk/advocate for HD every single day, all my MSW research has been about HD, my friends know more about HD then they probably need to.. tbh lol but i think i’m ready. i think i’m ready to talk about my testing process. now, my testing process is probably one of the worst of the worst. i dont want to write about my process to scare individuals that are looking to test but i do want individuals to know the warning signs of what a “bad” testing process looks like. where do i begin... soon after my mom tested positive in October of 2017 her doctor at the time, a local neurologist, told my siblings and i “it would be best to get tested.” She began to tell me that because I have Adrianna that it would be selfish if i waited any longer to get tested and when i was ready, to call her for the script. now, i did not know any of the warning signs because prior to my mom finding out, we have zero idea of what HD was. i was not aware of the Center of Excellence in Pittsburgh, i was not made aware that i should have received counseling prior to testing and prior to receiving my results, i was not aware how much anxiety and fear i would face waiting for my results, i was not aware of anything. one day at work, i was sitting there thinking about how the doctor was right and i needed to get tested for my daughter, if not anyone else. i made the call, the call took 2 seconds.. i called, requested the script, no questions asked, no advice, nothing. a few days later, the script came in the mail and it sat there for a little. i did not tell anyone i wanted to get tested since my mom just tested positive not even 3 weeks prior to this. i made 3 appointments before i decided to go to my local labcorp to get the blood work. i went on my lunch break because i figured it would only be about a 5 minute ordeal.. i’d get in and out, to my surprise lol that was not the case. my mom’s doctor failed to mention that most blood work facilities do not test for HD because 1. it is not very common and 2. most Centers of Excellence are doing the testing because of how the process should be properly done. i was at the labcorp for over an hour and a half.. filling out paper work, going back and forth on the phone with their head quarters because they weren't sure what test to use, what paperwork to fill out, ect. after it was finally finished, the wait came began. i waited and waited. i called to check in multiple times to the doctors office to see if my results were in. what was only 4 weeks, seems like a lifetime. in my head, i knew i was positive already. i figured everything bad always happens to me so why would HD be any different? i was the sibling diagnosed with a thyroid issue, the one diagnosed with diabetes, the one who was sexually assaulted. i have always been the ONE. again, no one knew that i got tested so this was something that i was dealing with alone. i was afraid, i wanted to cry, i wanted to hate the world, i was upset. finally the day came that i got the call. now, when i got the call, i knew.. i didn’t want to say i knew because i felt it, i knew because of how the call was handled. i was called by her office and was told that my results were in. i was told that she wanted me to come in for an appointment which i agreed to. everything seemed to be normal until she said “you will need to come in and complete new patient paperwork..”. right there. that was all i needed. i knew i was positive. they didn't have to tell me, i knew. why would i have to come do new patient paperwork if i was not going to be a patient? if i wasn't the tone of “i feel bad for you” in the person’s voice, it was that one sentence. i hung up and i just stared at the wall in front of me. i went and told my boss i needed to take a personal day and i left crying. i sat in the car before i decided to go in the house. walking in the house was like walking through a door to another dimension. i saw George, looked at him and cried and told him what had happened. of course, trying to comfort me, he was reassuring me that “i’m sure they have everyone do the new patient paperwork, that doesn't mean anything” obviously, by the look on his face he knew. he knew i was positive and he felt what i was feeling but he also knew he had to be strong for me because inside he and i could tell, i slowly began to die. i called my dad a few hours later and told him that i tested. i didn’t tell him what had happened because i could not imagine how much pain i would put him through. i kept my mouth shut. of course, the woman on the phone who was making my appointment tried to tell him i had to wait 3 weeks for an appointment and in the sternist voice i could pull from within me, i told her this is my life and i will not wait 3 weeks. she needs to get me in the next appointment because the last 4 weeks have been the worst experience of my life. i got the call right after new years.. what a great way to start right? she was able to get me an appointment the following Tuesday and i asked my dad and George to come with me. My dad drove us because i knew i wouldn't be able to drive myself home after the appointment. the ride to the appointment felt never ending. i had the first appointment of the day and i got there 15 minutes early. the waiting room was big but boring. sad, boring colors surrounded me as well as an awful fake wood wall paper. we sat there and we sat there. she was over an hour late. an hour. obviously this woman didnt care about me or my life. she didnt care what my results were. she didnt care that this would be the worst news i would ever hear in my life. she didnt care that i was waiting to find out how i will live the rest of my life. walking into her office, once she finally arrived was in slow motion. as we sat there George, me, then my dad, i felt it in the room. i’m not sure how to describe what “it” was, but it was there. she pulled out my papers and said “i’m sorry but have tested positive for HD.” she then goes on to read what the paper says that my results came in on, word for word like i have ANY idea what she is talking about. to be honest, after i heard what i already knew, everything around me was a blur. it was official, no more “maybe i’m wrongs” no more “maybe just this time i’ll get lucky:” it was official, i had tested positive at 43 repeats.. i had HD. I let out a gasp and i cried. i didnt have words and i didnt want to be in the room anymore. my dad and George began to ask questions, questions that i paid no attention to except one. there was one question that George asked that gave me hope until i realized that this doctor had NO IDEA what she was talking about because i began my own research after. George asked “what are the chances of Adrianna developing HD?”. now.... (inhales a deep breath) IF THIS DOCTOR KNEW ANYTHING ABOUT HD, SHE WOULD KNOW ITS GENETIC WITH A 50/50 CHANCE, THIS WOMAN TOLD GEORGE, MYSELF, AND MY DAD THAT ADRIANNA WOULD BE LESS LIKELY TO DEVELOP HD BECAUSE SHE IS A MIXED RACE. WHAT IN THE ACTUAL F***. that is the only question i remember being asked because it had to do with my baby.. now you may be asking, how could it get any worse? WELLLLL, it does. the doctor decided 5 minutes after she told me i was positive for HD, to do a cognitive test. now for those who do not know what a cognitive test is, it consists of a few tests with words, colors, numbers.. it tests your memory, speed, ect. picture this.. you just get news that you have tested positive for a terminal neurological disease now you have to take a test? so she does the test, mean while im in a complete daze, checks my reflexes, my eyes, mouth, tongue, ect. then goes to tell me i failed my cognitive test, that i will be symptomatic way before my mom, that because i’m diabetic, my left side of my body is already lagging, and a bunch more BS. after the test, i left and went to the car and just stared our of the window. George and my dad came out about 10 minutes later and then our ride home began.. so for those who wanted to know, that is how i tested positive for HD. i will talk in another blog about, wait for it, how much more terrible this doctor is... i’m sure many of you won’t believe that it gets worse.. BUT it does. again, i’m not trying to tell people not to get tested or not to trust your local neurologist but i just want people to know the signs and to speak up about it. My name is Ashley Pesi, i have a CAG repeat of 43 and i am positive for Huntington's Disease.
