Patients rely on their physicians to assess all of their ailments. We rely on health care providers to know which questions to ask. Questions that will lead to finding the answers that we are so desperately searching for when we know something isn’t right. We rely on doctors to make the connections between the symptoms we are experiencing, even when they don’t seem to connect at first glance.
In many ways, I believe that is where the problem lies when it comes to diagnosing someone with a rare disease. Medullary thyroid cancer (MTC) is one of those illnesses. It doesn’t just show up in regular bloodwork. Digging is required to think beyond the obvious.
The Big Puzzle
MTC is like a huge puzzle that has many little pieces that only make sense when the puzzle is put together. Maybe I can help you figure out how to put that puzzle together a little bit quicker for the next patient.
In my case, symptoms had a wide range. Some of the symptoms I didn’t realize I was having until after I knew I had some nodules and others, I didn’t connect until after my diagnosis. It is funny to me how one’s body can change so gradually that one just accepts it as ‘normal.’
As the symptoms appeared, I mentioned them to my primary care physician. However, he also never put it all together. In 2011 and 2012, 2 separate symptoms surfaced that started impacting my daily life. One of them was almost debilitating neck pain. The other was diarrhea that was increasing in intensity almost every day. It got so intense it would literally take my breath away and stop me in my tracks.
My doctor suggested trying healing avenues such as a chiropractor, a massage therapist, and/or physical therapist. He assumed the pain was due to past motor vehicle accidents. I went from therapist to therapist with minimal to no success. The pain was getting worse.
It would most often happen when something unexpected occurred. Someone swerving in front of me in traffic. The doorbell ringing. Slipping on ice. Someone scaring me.
It felt like all of the muscles in my neck would tighten up so much, it was almost impossible to move. I remember sitting on the couch and someone ringing my doorbell. By the time the pain had subsided enough for me to move again, the person had left my front door, assuming no one was home.
Working as a registered nurse in a pediatric critical care unit was becoming increasingly more difficult. I had to increasingly call in sick, feeling run down and unable to move.
Once I made the connection that it would happen more often with unexpected events, I shared this with my doctor. He concluded my symptoms must be mental health-related, especially since there is some family history of mental health issues. After he made this connection, most of my concerns were written off by him as anxiety or depression having physical impacts.
Digestive System Issues
Diarrhea was getting to the point of occurring 10-15 times a day of severe watery stool. Oftentimes, I would have to make a mad dash to the bathroom to make it in time. Sometimes it would come on so suddenly, I wouldn’t even make it. It was getting very embarrassing.
No medications were helping. Staying away from dairy wasn’t helping. None of the tests ordered ever showed anything.
Read more about MTC symptoms
My doctor checked my blood work for gluten intolerance. When this test came back negative, my doctor told me I must be lactose intolerant. Not enough to have shown up on any of the blood tests, but probably enough to make my digestive tract quite upset. It sounded a lot like Irritable Bowel Syndrome (IBS), which was another theory floated by my doctor.
Severe fatigue slowly but surely set in as well. Working 12-hour shifts became difficult. My sick time was almost used up by the time I actually received a diagnosis.
When I got home from work, I was barely functioning anymore. It was straight to the couch for me. I may have managed to cook something for dinner, on better days. However, most often than not on those days, I had my husband cook or we did take out.
I needed days on the couch to recover from a stretch of shifts. My social life took a toll because I just couldn’t function enough to make it to most engagements and therefore would often decline before even agreeing to it. It became isolating.
Then there were the symptoms I either didn’t notice or maybe didn’t want to notice. Once I had an ultrasound that showed the nodules on my thyroid, I could actually visually see them in the mirror.
I always had to nod my head to swallow. This was because I just couldn’t actually get anything down without doing it. It may seem like such an obvious thing to me, however, it was such a gradual change, I never noticed it until after knowing there were nodules.
Touching my neck was excruciating. I had noticed the neck spasms, but I never realized that touching the front of my neck actually made me jump.
I was always cold. No matter the temperature. Even in summer, I would lay under at least one or two blankets on the couch. At work, I brought a heating bag I could warm in the microwave. I wore it almost without a break. This would be on top of wearing 4-5 layers of clothing.
These specific symptoms ended up being the reason I agreed with my mother to ask for a neck ultrasound. Moreover, one of the doctors I worked with once told me to get my thyroid checked when he noticed the constant heating bag.
Different Yet Similar
Symptoms range greatly for MTC patients. I believe it is probably a reason why it often takes so long to get the right diagnosis. However, the common threads that I have found while talking to other MTC patients, include neck pain, fatigue, and diarrhea. Those 3 have been the most commonly mentioned symptoms.
Most patients will wait years to get a diagnosis. Some are lucky and their health care provider will do a physical assessment on the neck. In my experience, that is something that is often skipped in yearly physicals. I believe if this was a more common practice, many would find a diagnosis much sooner, which in turn could mean longer survival times for patients.
These symptoms in and of themselves can mean so many things. When put together, they could lead to other diagnoses. Maybe by reading this, next time physicians come across a patient with these symptoms, they remember this combination and consider MTC, giving their patients the answers they seek.