The story of Anna
To begin, I am truly honored to be considered a “Hero” of Rare Disease and share my story with the world. While the diseases and cancers that have a national day and are discussed often still do deserve support, I believe that the world should be more educated on all of the rare diseases there are.
Ask yourself — Can you imagine having a diagnosis so rare that even the specialists aren’t specialized? Or how about having to fight for better care and treatment because drug companies and doctors don’t see you as common enough to make you a priority?
Well, here’s my story…
I was diagnosed with Addison’s Disease, also known as Primary Adrenal Insufficiency, at a very young age. My body doesn’t produce cortisol, a hormone that impacts every aspect of life. With adrenal insufficiency, the inability to increase cortisol production with stress can lead to an addisonian crisis. An addisonian crisis is a life-threatening situation that results in low blood pressure, low blood levels of sugar and high blood levels of potassium.
September 2017, while in my first semester of college, I started getting intense headaches and vomiting quite often. I thought perhaps the stress from school had gotten to me, and causing my Addison’s to act up, so I saw a doctor to ensure my medication dosages were still correct. Before the scheduled doctor’s visit, I experienced my first petit mal seizure. I remember it so well. It was as if my brain had taken over everything in my body. It was like a movie screen turned on in the top left quarter of my vision and all my other senses turned off. I felt like I could see the future in fast forward but couldn’t talk or move.
While visiting the doctor, I received an MRI with results that revealed a left intraventricular mass. The mass was small and there was not an immediate concern. The plan was to watch it with imaging every three months. After about a year, all scans looked good and there was no growth, and my doctor felt that there was no need to continue regular MRIs. I was told close to 95% of these slow growing tumors are benign.
In fall of 2019, I began experiencing migraines and becoming fatigued once again. At first, I wrote off the headaches as seasonal allergies, and later, again, thought perhaps they were connected my Addison’s Disease. However, after a very scary late night trip to the emergency room after I had experienced a grand mal seizure, I was diagnosed on November 15, 2019 with a stage III pituitary gland carcinoma. The mass that was found two years back had tripled in size, and the cancer had already spread to other parts of my body before it was found. I don’t remember much of anything the doctor said before or after the words “cancer” or the way I reacted. But, apparently, I told him, “Is this some sort of fucking joke?”.
Unfortunately, there is just not much awareness regarding this type of tumor. And as you can imagine, since there is little awareness, there is a lack of money for thorough research. Logically, where there’s a lack of thorough research, there is limited information for treatment.
After that initial diagnosis, though, I immediately started six weeks of radiation, followed by eight weeks of chemotherapy and one major surgery. After this treatment, I was found to be “NED”, no evidence of disease, in March of 2020. And for several months, I was closely monitored, and still no cancer was found in my body.
It was a weird scenario because I was doing so well. Everyone kept telling me that it was a miracle I was alive. After months of being told I was a miracle, I just didn’t want to hear it anymore. I was focused on living a normal and healthy life. I was your typical college party girl. I didn’t want people to talk to me about cancer, I want them to talk to me about their favorite bars and their hook ups of that week.
Then, in October 2020, just shy of a year from my initial diagnosis, I was passed out at one of my check up appointments. An MRI showed that the tumor was back and even bigger this time. Again, I immediately began treatment, but this time around, I was considered terminally ill. Still, if there was a treatment, I was trying it. Radiation, IV chemotherapy, oral chemotherapy, platelet transfusions, blood transfusions, procedures… I did it all.
This was an incredibly difficult time period for me. I cried daily and had so, so many bad days. Outside of cancer, I was fighting a sexual assault court case, which truly caused me to lose any amount of positivity I had left. Cancer treatment made me feel ugly. I couldn’t drive, work out, or perform routine basic tasks. I also had horrific PTSD, anxiety, and depression. People kept telling me, “You’re so strong.” But, I didn’t feel it at all. I kept fighting because I never thought there was another choice. The loud, sweet, funny human being I once was, was replaced by a zombie who was constantly in pain.
After what seemed like a lifetime of failed treatments, I was approved for a clinical trial. It was open-label, first-in-human study of of selpercatinib (also known as LOXO-292). I took a pill twice a day for 28 days. I slept for pretty much 28 days straight, waking up only to puke or bitch to a friend. I developed a pretty bad rash too, and my entire body was swollen, but after those 28 days were up… I was NED!
Still, even though I was “cancer free”, I was in an incredibly dark place. I was numb and terrified at the same time. I had planned to die, and now I have to plan the rest of my life? It was like, what now? I remember some days wishing the cancer would come back just so that I could give up. Then, I had guilt for feeling that way. I had friends from the cancer center who had passed away, yet I was given a clinical trial spot, I was given life, and I didn’t even want it. Looking back, I think it was a mix of PTSD from outside trauma and survivor’s guilt. I know I am not alone in this, many of the people who I have met in the cancer community feel very similarly, and there is a strong correlation between cancer and suicidal ideation, yet it is something that is so rarely discussed in the outside world. At some point, I finally admitted to myself that I couldn’t handle it on my own, and sought help for my mental health, and continue to receive help in that area to this day.
Still, my story doesn’t end there. Towards the end of 2021 (can you tell I hate fall?), I experienced a grand mal seizure, something that hadn’t happened in years. While I knew what it probably meant, I was too stubborn to visit the doctor. However, after the unplanned seizures and headaches with auras continued to worsen, I eventually saw a doctor.
Yes, once again, the cancer has another recurrence. As soon as I found out, I immediately schedule a de-bulking surgery, to remove as much of the tumor as possible. This surgery was pushed back four separate times because of COVID, so while I waited for my scheduled date, I underwent immunotherapy and radiation. While the combinations of all of these treatments did in fact remove some of the tumor and possibly slowed its growth, they also resulted in further disability, dysfunction, and pain. For the first time since my initial diagnosis, I took the maximum dose of pain medications as I no longer could fight through it. Even with the fentanyl patch, I was still in so much pain.
This year, I’ve contracted pneumonia several times, in addition to bacterial meningitis, which have resulted in a number of lengthier hospital stays. I tried chemotherapy for a brief period again, and I believe I’ve had six surgeries so far this year. None of that worked. I truly contemplated giving up. I researched endlessly, Googling everything from physician assisted suicide to “How does a cancer patient actually died?”. I contemplated stopping my Adrenal Insufficiency medication at one point as well. However, still, for some reason, I felt I couldn’t give up.
Then, I was given one last glimpse of hope. I was approved for a clinical trial at NIH, and since I had already stopped treatment, I could start immediately. This is what I am currently doing, and so far it seems to be working. Nilotinib and paclitaxel are the two main drugs being used this time, for any science people that happen to be reading.
I am still fighting. I am still trying. People often ask me how I deal with it, how I stay positive, and the truth is, I don’t. I don’t know if I’ll ever be strong enough to. I still don’t let my mind travel to the place to think about how serious things actually are. I just keep telling myself that I don’t have a choice but to stay strong.
Still, I cry in my bed most nights, but then I wake up and give treatment my all once again.