Tight jeans, variant genes

My 4th chemotherapy treatment finally took place on Friday evening, 7/29/17, around 7 pm. I was released and exiting the building around 11 pm. MD Anderson (MDA), and I expect all the other premier cancer hospitals in this country, provide chemotherapy treatments 24/7. Cancer never sleeps, so neither do our major medical centers. It was uncommonly quiet at the hospital on a Friday night. I found the more relaxed pace both beneficial and preferable, as there exists for me a mild anxiety around chemotherapy treatment days. It generally requires a 2-2.5 hour wait for the lab to process the blood, provide the results to the oncologist’s office, then for the pharmacy and infusion team to receive the doctor’s dosing orders. The anticipation of waiting finally over, I am always both relieved and a little nervous as I’m hooked up to the machine and the harsh, but life-saving, chemicals begin to drip, drip, drip directly into my superior vena cava. I can’t help but wonder about the effect they’re having on my veins, heart, and otherwise healthy tissues, even as I celebrate their delivery. During busy infusion hours the nurses rush up and down hallways attending to multiple patients at once, regulating alarms that sound with conspicuous frequency, signaling ongoing issues such as bubbles in the drip line, kinked or clamped tubing, or IV solution bag finalization. The evening treatment session was decidedly less crowded and hectic, and therefore, more relaxing. I plan to request evening infusion appointments.

My nephew, Marc (sister Sally Jo’s son), accompanied me to treatment, driving me to and from the hospital and remaining by my side the entire time. I had decided to have my hair cut very short, as hair loss has begun in earnest, and I feel as if I’ve morphed into a shedding dog! Marc documented my shearing at the MDA salon, and I was so grateful to have him there for what I thought would be a more emotional event. His companionship was both comforting and delightful. We talked for hours about work, relationships, our mutual love and appreciation of yoga, and about life in general. One of the recurring blessings of this experience is that I have had the opportunity to spend time with, and get to know on a more individual and personal level, my nieces and nephews. I have lived in California for 30 years now, so many of these remarkable young adults were born since my departure, and our short, periodic times together have been shared primarily at family gatherings.

I am now two days post treatment, and I feel fairly well. My stomach feels better this time, and I’ve actually had a healthy appetite. Perhaps the 2 week break between treatments mitigated the cumulative effect of the chemo. Although I worried the delay could be detrimental, I’m told postponements will not affect my overall outcome. In fact, delays are common, and to be expected. I’ve read of patients who never suffered a low white blood count during chemo, but they are exceedingly rare. And, there are patients who experience longer and more frequent treatment delays. During my mini chemo vacation, I made a concerted effort to eat well and often to provide my body with the building blocks it needs. So when I stepped on the scale Friday night for my vitals I was pleased to see I had gained another pound overnight. Yep, pleased! Just another example of how much cancer changes ones perspective. NEVER have I enthusiastically blurted out the word “GOOD” when the scale increased, or my jeans tightened! But, according to breastcancer.org, “…women with more muscle mass were likely to have milder chemotherapy side effects than women with less muscle mass.” I need to contribute to this process by maintaining a healthy diet, healthy weight, and regular exercise.

I am currently spending a few days at my cousin, aka 5th sister, Debra’s, home in Webster. It is said that cousins are our first best friends in childhood. My sisters and I share a deep bond and abiding friendship with our “Debra Darling.” The opportunity to spend this much time together as adults is truly a gift.

I will meet with my oncologist this Thursday, and will inquire about genetic counseling. Following my diagnosis I requested genetic testing, as I wanted all possible information in order to make informed treatment decisions. I was vaguely familiar with the role mutated BRCA1 and BRCA2 genes play in the predisposition to breast cancer, so I requested testing for them, specifically. Apparently, though, a number of additional genes associated with hereditary breast cancer are emerging, so my genetic testing included many others, as well. According to the authors of the BioMed Research International article, Hereditary Breast Cancer: The Era of New Susceptibility Genes, “Breast cancer is the most common malignancy among females. 5%–10% of breast cancer cases are hereditary and are caused by pathogenic mutations in the considered reference BRCA1 and BRCA2 genes. As sequencing technologies evolve, more susceptible genes have been discovered and BRCA1 and BRCA2 predisposition seems to be only a part of the story.” I tested negative for both BRCA1&2, but positive for “one variant of unknown significance” (VUS) of the RAD50 gene, one of many other “cancer susceptibility” genes. It is involved in a BRCA pathway critical to DNA repair. My alteration, which results in arginine being substituted with glutamine (an amino acid with highly similar properties) is predicted by standard biochemical methods to “probably be damaging and deleterious.” However, because supporting evidence is too conflicting at this time, the clinical significance of my particular alteration “remains unclear.”

The report describes variants of unknown significance (VUS) as “alterations with limited and/or conflicting evidence regarding pathogenicity. Medical management is to be based on personal/family history, not VUS carrier status.” While other variations of the RAD50 gene are known to contribute to the incidence of breast cancer, research and evidence about my specific variant (R1200Q) is simply too conflicting at the present time to provide clear clinical significance. My particular variation has not (yet) been proven to increase risk for disease, or to be the cause of the disease within a family. But, it is a genetic mutation. So, I am both curious and concerned about that. There is still a great deal of work to do on this variant, and many others. The human genome is incredibly complicated and complex, and we have certainly entered into a highly advanced era of medical technology. Advances are being made, it seems, at light speed.

 It is fascinating research I will follow, of course, with a great deal of personal interest.
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