“Writing out the timeline… makes it seem like everything happened immediately and without any issues, but the truth is, the road to both diagnosis and treatment were challenging.”
We got the radiology results sitting on the couch in our family room. I think that sometimes online medical charts can be both a blessing and a curse. They definitely simplify our lives as patients, but sometimes the information is almost too readily available. I wasn’t prepared for the email I got that night in August 2021 that told me new test results had been uploaded. And I certainly wasn’t prepared to open the results and see the words “paragangliomas”, “bilateral carotid body tumors”, “cancer”, and “possible genetic mutation”. I remember I just stared at the words, reading them over and over, thinking I must be seeing something wrong. I started to cry as it began to sink in. My now fiancé, then boyfriend, asked what was wrong, and I wordlessly handed him the phone. I think I spent a lot of that night panicking, going to the worst places in my head, just saying over and over that I didn’t want to die. I didn’t know what the results meant for me at the time, and I was scared, so, so scared. Sometimes I think about that horrible night and wish I could go back and tell myself what I know now. You’re going to be alright. You’re strong. You can do this. And most importantly: no, you’re not going to die.
Looking back, I’d say the journey began in January 2021. I had noticed a protruding lump on the right side of my neck when brushing my hair. It was tender to the touch and pretty large, but I really didn’t think too much of it. I had a history of recurrent strep throat and tonsillitis, and my lymph nodes usually swelled when that happened. I figured it was that, thought it would go away in a couple weeks, and brushed it off as nothing major. But by May, when it still hadn’t gone away, my fiancé urged me to go get it checked. We’re lucky he did.
Have you ever had that sinking feeling in your stomach when you realize that something isn’t quite right? For me, the first inkling that there was a problem came during a biopsy my ENT had prescribed. I had already been through an ultrasound and had been told this lump was probably nothing. So why was I going for this biopsy? At the hospital, the surgeon took a sample, left, and then immediately came back. “I’m going to get a few colleagues of mine to also take a look at this”, he told my fiancé and I. “We’re going to need to take more.” And my heart just sank. They thought something was wrong with me. I knew that much. I just didn’t know what.
A CT scan and MRI would provide the initial results I got when sitting on my couch that August night in 2021. In December of 2021, I’d find out that in addition to the two carotid body paragangliomas wedged in the bifurcations of my carotid arteries, I also had two more tumors, bringing my grand total to four. There was a tumor on my vagal nerve, called a vagal paraganglioma, as well as an abdominal paraganglioma hiding in the cellular walls of my duodenum. In March of 2022, I tested positive for a genetic mutation known as the SDHD mutation. I learned the SDHD mutation was the cause of my tumors and also discovered it puts me at risk of developing additional tumors in the future. And as the crushing blow, I then found out there is a 50% chance of passing that faulty gene to children down the line.
The year and some odd months between that original diagnosis and present time were overwhelming, isolating, and tiring. I’d end up having 5 CTs, 4 PETs (one of which I had a panic attack during and the technicians refused to take me out of the machine despite my sobbing and begging), 3 MRIs, the biopsy, the ultrasound, an endoscopy/endoscopic ultrasound that led to internal bleeding, consultations and visits with four different specialists and hospitals, two rounds of genetic testing (the hospital admitted to losing all of my blood samples during the first try), countless blood work, a weeklong trip to the National Institute of Health for rare disease research, and finally, a cerebral angiogram.
Writing out the timeline like that makes it seem like everything happened immediately and without any issues, but the truth is, the road to both diagnosis and treatment were challenging. I hit multiple roadblocks along the way. It felt like I was seeing a doctor every week for a consultation or procedure, and I was mentally and physically exhausted. My fiancé and I dragged ourselves out of bed at all hours of the night to get to New York City for scans and appointments and faced various difficulties with delays in procedures, complications as results of procedures, and issues with insurance. But the biggest challenge of all was that once we came to the conclusion that the largest tumor needed to be removed, my fiancé and I had to choose a surgical team to perform the surgery when everyone had differing opinions on which approach to take.
After much research and conversation, on November 10, 2022 and November 11, 2022, the largest tumor was first embolized and then ultimately removed from my right carotid artery. The surgical team was able to save my carotid arteries, my cranial nerves, and all vocal cord function. I’ve had no issues with my tongue movement or swallowing since. We chose an incredible surgical team, and I’m still in awe of what they were able to do. I owe so much to them.
It’s only been a few weeks post-op now and I’m still emotional about both the outcome and the journey ahead. There are so many things I’m feeling but mostly I’ve been overcome with feelings of relief, gratitude, and thankfulness. I am relieved the largest tumor is now out of my body and that the surrounding lymph nodes removed show no sign of cancerous spread. I am grateful my body is able to recover from the trauma of a major surgery. I am thankful to have the most incredible support system. My friends and family have rallied behind me, and I’ve also received so much love from fellow patients I’ve met along this journey. My fiancé has been nothing short of incredible throughout this entire process. He’s never missed a doctor’s appointment and has been my champion the entire way.
I don’t know what is still to come. I know another surgery to remove the second carotid tumor is likely, and I know we will need to consider radiation for the skull-based tumor in the future as well. I’m concerned that other tumors with unknown implications will appear in my lifetime. I know there are conversations that need to occur about the genetic mutation and what that looks like for building a family. Right now, though, all those things can wait. Just for right now, the nightmare is over. Right now, I am just happy to be alive.
Just a small passing reminder to anyone who may read this that life is precious, life is a gift, and to appreciate all of life’s small joys this holiday season. And to anyone who’s at the beginning of their journey: You’re going to be alright. You’re strong. You can do this.