As a patient with a rare disease, February each year is special. It is Rare Disease Month, culminating on Rare Disease Day. Many other cancers and chronic diseases have their day each year, as well. But casting light on the unique struggles of rare disease patients is of particular interest for me and the global rare disease community.
However, oftentimes, all rare diseases seem to be lumped together and are jammed into a single month when we have a passing moment to draw attention to our life-long battles against diseases that only now are beginning to be understood and recognized.
This is probably a reason why many of you reading this may have never heard of medullary thyroid cancer (MTC). I certainly never had, even though I went through nursing school. It had never even shown up in any of my lectures or textbook readings. It just isn’t a disease that healthcare professionals, let alone the general public, know of. I believe this is mostly due to it simply being that rare.
From the time I can remember having the first symptoms until I finally had a definitive diagnosis, it took 5 years. In those years, I had visited multiple doctors and specialists. But none of them could give me an answer as to what was ailing me. I received diagnoses such as mental health issues, possible lactose intolerances as well as whiplash. None of them gave me the right diagnosis.
After 5 long years, I finally found a doctor who did the right tests (an ultrasound) that would lead to more investigations (a biopsy). This then led to finding myself in a surgeon’s office receiving the earth-shattering news, “you have cancer.”
I saw a surgeon who generally specializes in treating mostly breast cancer patients but also did some head and neck surgeries. He would now perform my surgery in just a couple of weeks. Because MTC is so rare, he wasn’t as confident in this kind of surgery, which is why he asked for another surgeon more familiar with head and neck surgeries to join him in the operating room.
Read more about the diagnosis of MTC
Just a short 20 days after my life turned upside down, I was led to the surgical suite for my first surgery. It went much better than we had feared. I ended up with an incision ranging from ear to ear. Not only did the team remove my thyroid, they also removed 87 lymph nodes and a parathyroid and had to scrap many tumors away from my vocal cords and muscles.
A couple of months after my surgery, I met a new team of doctors at the cancer center I was referred to. This time, I was seeing a radiation oncologist, to get me prepared for the 30 treatments I was to receive over the course of 6 weeks. It was some of the hardest 6 weeks plus recovery, that I have ever gone through.
Within 6 months I found out I had a reoccurrence in the radiated area and needed another surgery. I underwent another right neck dissection days away from the first anniversary of the initial surgery.
The 6 years from symptoms having an effect on my life to making it through the treatments, were some of the longest of my life. They were that not just because of the actual treatments. The more draining part was the waiting for a diagnosis. Waiting to find people who were knowledgeable enough to be the ones to help me.
Having such a rare disease means finding experts, or even anyone who knows even a little bit about this illness, is very challenging. I might even call it the most challenging part of a rare disease.