Family History of Ovarian Cancer; A Tale of Three Sisters

By Larry Puls @larrypulsauthor

Family History of Cancer, Ovarian Cancer

By the early 90’s, oncologists had obviously observed for some time that certain families were far more affected by various malignancies than others. They knew intuitively that a gene, or genes, tied these cancers to the families, but that genetic component couldn't be readily identified by testing. Today, advances in the study of genetics is changing all of that, allowing us to frequently identify who might be at an increased risk for cancer, even before they develop one. The rapid discovery of new deleterious (bad) mutations allows us to identify individuals who are at an increased risk and to tell them what that risk is over the norm. Knowing this presents us with an opportunity to screen more effectively, to potentially intervene before the cancer starts, to counsel multiple generations within a family, and often prevent certain at risk members from losing their own lives secondary to a malignancy.

The story I will start sharing today is one that began before any real proven screening was available. My hope is that it reinforces the need for people with concerning family histories to seek out counsel and genetic screening. It is the tale of three sisters, two of whom I can picture as plainly today as when I first met them. Each of them had her own unique course. I came to know the first sister before any real genetic screening was available, and even before the BRCA family of mutations (responsible for ovarian and breast cancer) was discovered. It was in the early nineties, when a young woman was sent to me for evaluation of a mass in her pelvis. She had the classic bloating and bowel changes seen with so many ovarian, fallopian tube, and peritoneal cancers. One look at her CT scan, and I knew so much of the story—even the probable ending. She had a belly full of fluid (ascites), which portends to a poor prognosis.

Within a week of our first meeting, surgery was performed. One major disturbing issue with the findings surrounding this patient, besides the fact that the cancer had already spread, was that this woman was all of thirty-two years of age and no children. And from the surgery, we had just taken that opportunity away by sweeping out the cancer, which had effectively consumed her reproductive organs. The uterus and both ovaries were replaced by the cancerous process. But what are you going to do? You can’t leave the cancer there. We were aiming for life. And survival is tied to getting the cancer out. So we attempted that. But even with all of our team's efforts and hours of investment, we were unable to dig out the thousand areas of cancer from her abdomen and leave her functional. It was like someone had super-glued all these little pebble-like implants all over her insides. And that made for a bad situation. 

After recovering from the surgical intervention, I walked her through all of her options. One by one, chemotherapy treatments were given. Some were successful, some were not. But after each set of treatments, like a slow-moving train, the cancer found a way back. It showed every ability to adapt and recreate itself with more resistance and stronger fighting cells, even though a multitude of drugs were thrown its way. It was tenacious. Ten rounds of chemo turned to a hundred. Each day of chemotherapy took a slightly greater toll, even at her age. The drugs knocked her energy level down by one percentage point or so with each therapy. But do the math, eventually the fatigue took serious hold—even at thirty-two. She found it hard near the end of life to even walk through her home some days.

But as bad as that was, that was not the most difficult hurdle we had to cross. Another event came to limit our ability to treat her and it was ultimately a major influence in her death. This persistent adverse event, though not uncommon, is rarely as bad as it was in this case. Her bone marrow, the part of the body that makes blood, began to struggle significantly. Little cells called platelets, the ones that clot our blood when we cut ourselves, were simply destroyed. Without them, people cannot stop bleeding. And that is beyond important. My patient finally ran out of these little critical cells, and she never found a way to regenerate any amount of new ones, at least not quickly enough. Without those cells, I could not give chemo, and without chemo, I could not offer life.

Day by day, hoping that her bone marrow would find a way to start up again, we waited, and waited, and waited. Each day I walked in, I could see her losing strength, her appetite, and finally her will to live. It was like we had a useful chemotherapy gun aimed at the cancer, but could not pull the trigger knowing she would never recover from the aftermath. She needed platelets and she needed chemo all at the same time. But the two items on the "needed list" remained incompatible with each other.

Her weakness became pervasive. Death was winning the day. I sat with the mom and two sisters, as we discussed their family member's course and the fact she was losing her battle to ovarian cancer. She passed away within two weeks. It was a peaceful death in that she had little pain. But it was death still the same. When I said my goodbyes to the family the day I pronounced her death, I thought I would never see the family again.

One year later, all that changed. Next week, part II.

And next week more information on genetics.

Family History of Cancer, A Tale of Three Sisters, Larry Puls, (Click to tweet)