“Think horses not zebras.”
Many patients with rare diseases will agree with me when I say that one of the most terrifying, frustrating and anxiety-inducing parts of our journey, is getting a diagnosis. There are probably a million reasons why it often takes months, years or even decades to find an answer to what ails us.
One of those reasons is health care providers are just not focused on rare diseases. Sometimes it is health care providers not having the right education to know what to look for. Other times it is doctors dismissing valid concerns from their patients.
There is a saying, “when you hear hoofbeats, don’t think zebras.”
Well, sometimes that is the sound of zebras.
When I compare my story to others with rare diseases, I count myself as one of the ‘lucky ones.’ I received my diagnosis 5 years after making the first comments about concerns to my primary care physician. In my case, symptoms started very gradually. Thinking back some of the weirder symptoms I experienced, had been present in my life for a very long time. For example, one of the first symptoms I can remember were sweaty, cold hands.
After more symptoms appeared in 2016, I decided that I needed to find another health care provider to help me. I felt like at this point my doctor wasn’t listening to me. It felt as though he had made his decision about what was going on with me. He was not going to investigate any further. He decided that my symptoms were all the result of mental health issues that manifested physically. I had mentioned some of my concerns to walk-in clinic doctors before, who all referred me back to my primary physician.
Seeking a Second Opinion
So, I found a new primary care physician. At our meet and greet, I laid out the symptoms I had been experiencing over the years. She suggested a full work up, which I obviously agreed to. She wanted to do everything from bloodwork, to ECG, to physical assessment. Everything came back normal.
I was devastated. Why couldn’t we figure out what was happening with me? I was taking upwards of 10-15 pills a day. Those being Ibuprofen, Acetaminophen, muscle relaxants… all of which were giving me little relief. My life consisted of going to work and then having to recover on the couch for days after. Social engagements were getting challenging, too. I often found myself saying “everything hurt.”
Finally, Some Answers
My mom suggested I should ask for an ultrasound of my neck. Maybe there was something going on with my muscles that could explain neck spasms, the most debilitating of my symptoms.
The ultrasound was one of the most painful procedures I had to endure up to this point. It ended up showing multiple nodules in my thyroid bigger than a centimeter. When I got that news, I had a feeling that it would be cancerous once it was tested. My new doctor sent me for a biopsy of the nodules, which came back as medullary thyroid cancer (MTC).
After the ultrasound, while waiting for the biopsy, I did a lot of research, googling everything I could to try and figure out what could be waiting around the corner for me. The entire focus of my research was based on follicular and papillary thyroid cancer. I said to myself ‘Medullary Thyroid Cancer is so rare. That won’t be the cancer I have, if I have one’.
So, when I was sitting in the office of my surgeon and heard the news, ‘you have cancer and the specific type is medullary thyroid cancer,’ my whole world crashed in.
About a year later, my mother ran into my doctor who had dismissed my concerns, in a grocery store. After she explained to him that it seemed like he missed a diagnosis as severe as cancer, he was speechless. He apologized over and over again and asked for permission to look at my records.
I don’t blame him for missing my cancer. However, I do blame him for not listening to me. A check of my neck during a physical would have raised all of the alarm bells. In my opinion, those are skipped too many times during assessments. It is often a very ‘easy test’ to be done. Especially for MTC patients, could mean a faster diagnosis.
My request for health care providers – please don’t skip over physical neck exams. Please listen to your patient’s concerns, especially when they come back to you over and ove again with the same issues. If you are out of ‘horse’ ideas, maybe start thinking about some of the ‘zebra’ ideas.