If you are familiar with medullary thyroid cancer (MTC) in any way or have done any research into it, you will have learned about a possible genetic component that accompanies MTC.
Even though I knew very little about MTC when I received my diagnosis, I vividly remember asking one of my doctors if my family would have to get tested for this cancer as well. I guess having a family history of breast cancer exposed me to the fact that some family histories make one more susceptible to certain diseases. This was my thinking behind asking if the family needed to be worried about themselves as well.
Little did I know at the time, there was a much bigger question looming. A question that changed my perspective of this cancer yet again. A question that led to so many more questions, anxieties, and worries.
Let me give you a quick rundown of what it all means. Around 75% of all MTC cases are diagnosed with what is called sporadic MTC. This means that their specific disease pattern is not caused by an inherited genetic mutation but just a fluke of nature. On the other hand, about 25% of all cases are related to a heredity origin. For these patients it means that they either received this mutation from a parent or, in some cases, are a so-called ‘de nova’ patient. These patients are considered to be the first in their family to have this mutation and could be passing it on to their children.
Read more about the diagnosis of MTC
As you could imagine, getting a diagnosis of cancer is scary enough, then having to think about the possibility of a genetic mutation is responsible, makes things even scarier.
In my particular situation, my doctors explained my family would have the option to get screened for the cancer, however, more in-depth investigations would have to wait until after my genetic testing was completed. My sisters decided to get ultrasounds of their thyroids done to rule out any immediate need to act on any suspicious findings. Thankfully, those tests came back clear, which meant waiting for my screening to come back for more decisive information for them.
Another aspect that also weighed heavily on my mind was what this prospect could mean for my future children, mainly if I would even have any. If I could really pass this horrible disease on to them, would I risk having biological children? I can only imagine how much this waiting period weighs on patients who have already had children and need to figure out how and if to get treatment for them as well.
It isn’t simply dealing with cancer, it is that plus also worrying for your families well being beyond their fears and worries for your own health.
I consider myself one of the lucky ones. I received my testing and the results of the same in under a year of my diagnosis. A friend I have met through MTC, who goes to the same cancer center as I do, waited over 2 years to get the testing completed.
Again, I counted myself as one of the lucky ones once I received my genetic testing results which showed that I fall under the sporadic category. Just to recount, this means that I can not pass on the disease to my children, nor does my family need to get tested to see if they also carry the genetic material to develop MTC.
Over the course of the 10 months I waited for these results, I had a lot of time to research what a hereditary diagnosis might mean for us as a family, both my family unit with my husband as well as the extended family. Between all of the treatments I underwent, the research I did, the conversations I had with so many people, I felt prepared for whatever the geneticist would tell me in my appointment. I was so confident that I didn’t even bring anyone else with me to the meeting.
In some ways, I believe the doctor didn’t expect to have someone show up who may be prepared for either outcome. Of course, if my results would have come back as hereditary, my reaction might have been different, mostly because my husband and I had made the decision that it probably wouldn’t be wise to have biological children in that instance.
However, in the moment that I was sitting in the consultation room, I felt at peace no matter which way the conversation was going to go.
When I am thinking about it though, I could not have imagined having to wait any longer than I did to have these results. It honestly felt like I was in a constant state of limbo. It was this weird place of being through the majority of my treatments, but not being able to even begin to move on with my life until this particular appointment.
If it is at all in your power to help your patients in expediting genetic testing, please do so. Patients are already struggling with so many other things, not able to move on or through this just makes us feel stuck. Help us in any way you can to get “unstuck.”