[2020-10-17] Messy and magical

I debated whether to write this post, as it touches on diagnostic testing to come in the future and I try not to focus on health matters where uncertainty exists. However, upon reflection, I decided that if I am to faithfully reflect my journey with cancer, I should share most things in the moment.

In my phone conversation yesterday with Dr. Faught, one member of the oncology team at the Women's Health Centre, he shared that the genetic testing on my tumours showed that they contained the BRCA2 mutation. BRCA is a human gene that suppresses tumours. We all have that gene, but some people inherit mutations in these genes and are therefore at an increased risk of developing cancer, particularly breast and ovarian cancer.

However, Dr. Faught pointed out that the fact that I have the BRCA2 mutation in my tumour does not automatically mean that I carry that gene mutation generally. Further genetic testing will be required to determine whether I carry the BRCA2 gene mutation in all cells.

The conversation with Dr. Faught was short, as so many conversations with doctors are. So I did a bit of research following the call. The webpage A BRCA Mutation Was Found in My Tumor. Does This Mean I’m a BRCA Carrier? by My Gene Counsel provides an excellent summary (if a little technical) of my situation and its implications.

All tumors have genetic variants that cause the cells within the tumor to grow under its own control and ignore many of the natural checks of a normal cell.... Genetic variants found in a tumor often arise sporadically and are only in that tumor, rather than in all of the other cells of a person’s body.... Genetic variants that are somatic [in the tumor] are not inherited, but sometimes a genetic variant that is found on tumor testing is one that is actually in all of someone’s cells and was inherited.... If a person has germline BRCA testing and is positive for germline pathogenic BRCA variant:
    • he/she is at risk for the other BRCA-related cancers, and
    • can pass this variant on to children
If a person has germline BRCA testing and testing is negative:
    • the pathogenic BRCA variant found on tumor testing is most likely present only in the tumor
Germline genetic testing is important to make informed decisions about cancer treatment (e.g., surgery, radiation), to determine whether someone is at risk for other BRCA-related tumors, and to learn whether family members are at increased risk to develop cancer. Such testing is important to both men and women.

So, if my gene testing shows the presence of the BRCA2 gene mutation in my cells generally, this has implications for me—greater risk of developing other cancers—and my family members—risk that they too are carriers of the gene mutation.

But all of this is speculation at this point. As I have done to date in dealing with cancer, I will worry about something once I know that I truly have something to worry about. For example, when I went for my first visit with Dr. Faught, he had me sign forms authorizing the team to do a bowel dissection and a colostomy if these were determined to be needed during my hysterectomy. In the two weeks between that appointment and surgery, every time I thought about these possible outcomes, I would just push the thought out of my mind. When I awoke up from surgery, my first question to the nurse was whether they had performed either procedure. I was relieved when she said no.

So I will take the same approach with the genetic testing and counseling to come. I won't worry about what might be, because doing so won't change the outcome anyway. The die is already cast and worrying won't alter whatever reality I am to learn about in the future. As philosophy professor Bill Irvine said and I quoted in my post on Stoicism, "If you spend your day thinking about, anxious about, dwelling upon the things you can't control....You're wasting your time, you're wasting your energy, you're causing yourself grief."

There was some good news in the pathology results. Dr. Faught explained that tumours with either the BRCA1 or BRCA2 gene mutation are more responsive to chemotherapy, and more treatment options exist, leading to a better prognosis. In his view, the pathology results were positive overall.

While the results don't change my chemotherapy treatment already under way, I will be prescribed an additional medication, known as a PARP inhibitor, that I will take daily once my chemotherapy concludes. According to Cancer Research UK,

PARP is a protein found in our cells, it stands for poly-ADP ribose polymerase. It helps damaged cells to repair themselves. As a cancer treatment, PARP inhibitors stop the PARP from doing its repair work in cancer cells and the cell dies.

I could look at this additional targeted medication as another layer on my layer cake and that's a good thing.

Today's entry in A Year of Positive Thinking seems appropriate. It says that life is both messy and magical:

Make mistakes. It means you are actually trying. Walk around with your eyes wide open and your feet firmly rooted. Stumble. Fall. Get back up. Cry when you must, and dance when you are compelled to. Laugh. Feel anger and sadness, but allow room for joy and debauchery, too. Life is both this and that, messy and magical. In finding balance, don't forget to leave space for both.

My health is both messy and magical, but there's so much of the latter to be grateful for. My surgery was successful, involving optimal removal of cancerous cells and no bowel dissection or colostomy. I see that as magical. When I described to Dr. Faught what I've been doing in the past week—walking many steps every day, experiencing no pain, taking no medication, having energy to spare—he said, "You're ahead of the curve." I see that as magical. When I asked him whether my response to the first round of chemotherapy would be much the same in subsequent rounds, he said yes. I see that as magical.

I am grateful for every day I have to laugh, to dance and to get back up when I fall.