Genetics in Here Be Dust

Five Taxol infusions down, seven to go. My next chemo will occur tomorrow if all goes well.

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I had plenty of questions for the ARNP this last time and am still left with several mysteries. One in particular made her bump up my meeting with my oncologist, whom I normally see every three weeks or so. I will see him tomorrow instead.

A link on the Twitter feed of breast cancer social media (#BCSM) had taken me to this article in the Jewish Daily Forward; specifically, these two paragraphs:

“Pancreatic cancer runs in families, and approximately 10% of all cases occur in individuals with a genetic predisposition for the disease. BRCA mutations, which are well known risk factors for breast and ovarian cancer and occur at a higher rate among Ashkenazi Jews, can also increase the risk of pancreatic and prostate cancer, albeit to a lesser degree. People with these mutations have a two- to six-fold increased risk of developing pancreatic cancer over general population estimates, though data is limited.

“On the other hand, Ashkenazi Jews with pancreatic cancer have also been found to have a higher than expected prevalence of BRCA mutations, a study published this year in the journal Cancer showed. The research also showed that individuals who have a family history of pancreatic cancer are frequently found to have these genetic mutations. ‘At this point, we do not fully understand which patients who carry the BRCA1 or BRCA2 mutations are at risk for pancreatic cancer,’ said Aimee L. Lucas, assistant professor of medicine and gastroenterology at the Icahn School of Medicine at Mount Sinai, in New York, and lead author of the study. Knowing who has a family history of pancreatic cancer, along with the genetic markers, can help identify people who should undergo regular screenings. This may lead to earlier diagnosis and treatment of pancreatic tumors, which could ultimately lead to higher survival rates.”

I had told both my surgeon and my oncologist early on that my paternal grandmother had died of pancreatic cancer. At the time my disclosure seemed to be a non-starter. That was before I learned of the Ashkenazi connection.

I fall into that group. My ancestors came from the shtetls of eastern Europe, mainly Russia. My paternal grandmother had been born in Romania, but her parents had been Russian.

At last week’s meeting with the ARNP I raised the issue again, this time with my info from the Daily Forward article. She gave me a brochure on HBOC: hereditary breast and ovarian cancer. The brochure contains a checklist of risk factors. Two jumped out at me:

1. Ashkenazi Jewish ancestry and a personal or family history of an HBOC-associated cancer at any age.
2. Pancreatic cancer and an HBOC-associated cancer in the same person or on the same side of the family.

My paternal grandmother had pancreatic cancer but no HBOC-associated cancer that I knew of. (Her death certificate lists only “General carcinomatosis,” but my father had told me she’d had pancreatic cancer.)

I then recalled that my father’s first cousin – the daughter of his mother’s sister – had been diagnosed with cancer back in the 1980s. But what type?

I am an only child and the last of my line. I had been very close to my second cousin – the daughter of my father’s first cousin and also an only child – and my journal recounts many of our phone conversations over the years. I began an exhaustive search, working backwards from the time of my father’s cousin’s death in 1988. Cause of death had not been recorded on her death certificate.

I hit paydirt (such as it is) when I reached my journal entry of Dec. 23, 1985, in which my second cousin had told me that her mother had undergone surgery for ovarian cancer.

Bingo! Now I had something.

On the one hand, there is some genetic distance between us; I am looking at cancer in a grandparent and in a first cousin once removed, both of them on my father’s maternal side of the family.

On the other hand, dearth of actual relatives means that I have very few data points to work with. I have no siblings. My father had one half-sibling, but on his father’s side, and they had lost contact with each other in childhood. My second cousin had died far too young, from morphine poisoning at age 44.

According to the HBOC brochure, having a BRCA gene mutation would mean that my risk for a second primary breast cancer would be up to 64%, compared with a general population risk of up to 11%. My risk of ovarian cancer would be up to 44%, compared with less than 1% for the general population. And my risk of pancreatic cancer would be up to 7%, compared with less than 1% for the general population.

Lack of relatives does not necessarily mean lack of potential. That will be the main issue I raise with my oncologist with respect to getting tested for BRCA gene mutations.

The other questions I had raised with the ARNP concerned my bloodwork. The good news is that after running low for two successive weeks, my hemoglobin ticked up into the low-normal range, from 10.8 to 11.5. My red blood cells have recovered a bit in general, though my white blood cells continue to drop.

For anemia the ARNP gave me Fusion Plus, so I’ll see if it makes any difference with respect to how my iron gets transported. That had been the main issue – my iron readings are generally fine, but for some reason my iron saturation percentage has taken a dive.

My drop in total protein (despite normal readings for albumin, globulin, and A/G ratio) remains a mystery, though the ARNP said my exercise level is fine. She added that my workouts might use up more albumin and that taking a little extra protein might help there. I’ve bumped my consumption up with the help of protein powder.

Given my drop in white blood cells, I asked her if I should start thinking about wearing a face mask, but my immunity is not that low yet. My absolute neutrophil count has been dropping steadily, from 3.9 on the day of my first Taxol infusion to 3.6, 2.4, 2.2, and then 1.9 last week. If it drops below 1.0, it’s time to break out the masks.

For a few days last week, M and I enjoyed a literally toxic relationship. She had gone in for a vaccination, which meant three days of her antibodies being active. That prompted my oncologist to tell me to use “an abundance of caution,” given my lowered immunity. Day three had also been the day of my chemo infusion and the start of my own toxicity (in whatever my body excreted) for the next 48 hours.

That meant five days of one of us being toxic to the other, and one day of overlap where we were mutually toxic. I categorized that on my Facebook update as “twistedly romantic.”

In addition to my chemo countdown graphic, meditation doodles marked the beginning and end of Labor Day weekend.

“Night Lights”:

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The fish and moon are based on photos of mine. The fireflies are based on a photo at Denny McKeown’s The Bloomin’ News.

“Sun Temple”:

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My homage to the non-astronomical end of summer. I traced and embellished the caryatids from a photo by J.C.F. Rossi of St. Pancras New Church in London.