By MaryBeth, Desmoid tumor, United States, February 16, 2020
At the age of twenty-five, after undergoing several scans and, ultimately, a biopsy, I was diagnosed with a Desmoid tumor, otherwise known as aggressive fibromatosis. Desmoid tumors impact approximately 900 people every year in the United States (2-4 per million people). The tumor behaves in a wide variety of ways and it's impossible to know how the disease will behave making the management of the tumor very difficult (dtrf.org).
After experiencing increasingly sharp pangs in my leg for many months, I made an appointment with my primary care physician. Following the appointment, everything advanced swiftly. Through a series of tests over a week, my diagnosis was confirmed and surgery was scheduled a few weeks later to remove the aggressive tumor from my left calf. What I presumed would be a quick resolution to my rare disease battle was merely the starting point. A new normal had just begun.
While the diagnosis proved rapid, the path to an effective treatment was slow. When I was diagnosed in 2016, there was no consensus from doctors and researchers on a standard approach to treatment for Desmoid tumors. Living with a rare disease required constant trial and error in the attempt to get it under control. Surgery and two oral medications proved ineffective. Twenty-two months after diagnosis, the tumor—growing rapidly at the time—caused the muscles in my leg to constrict and prevented me from walking without the aid of a device. At this point in my rare disease battle, it became critical to find an effective treatment, but the only way to do that was to keep trying alternative forms of treatment.
The criticality of the situation was compounded by the fact that I didn't feel my doctors were working together to come up with an effective path forward. I kept being told that eventually, my tumor would start to shrink. Given my rapid mobility loss, I needed more than "eventually." I was desperate for answers.
The desperation sparked change. I finally grasped the importance of being my advocate and made the switch to a new healthcare team. That decision became the turning point in my rare disease battle.
The new treatment plan put in place ultimately aided in shrinking the tumor and allowed me to slowly regain my mobility over the following two years.
Only after being diagnosed with a rare disease did I come to understand the importance of advocating for myself as a patient, asking hard questions, getting a second opinion, and having someone I could trust with me whenever possible.
I had always assumed my doctor would advocate for me, but as a patient, I learned I had to advocate for myself. Even today, in a place where I am confident in my team of doctors, it's important to advocate for myself every step of the way. When something doesn't feel right, or I don't fully understand why we are doing something, I speak up. It's my life and, therefore, my responsibility.
Never in my wildest dreams did I anticipate that I would one day live with a rare disease, but here I am—one of many who fight a battle that is full of unknowns. I share my story to offer hope to fellow rare disease warriors.
When I was first diagnosed with a rare disease, I wanted to get through the inconvenience as quickly as possible and hop on the fast track straight back to the life I once knew. I quickly uncovered there was no going back—this was my new normal. With my new normal came the realizations that I had a choice to make: did I let the tumor take control of my life or find a new normal—one where I embraced the journey and chose to live my life to the full even amid the hardship. More than survive, I wanted to thrive.
Trial and hardship aren't exactly part of anyone's plan, and yet, difficult diagnoses and unexpected circumstances make their way into all of our lives. God never said this life would be easy, but he did promise a full life (John 10:10). Along the journey, I've uncovered there is goodness waiting to be found amidst struggle and uncertainty. And you can find it too.