Family History of Cancer; BRCA mutations; The Second and Third Sisters

By Larry Puls @Larrypulsauthor

Sisters with Ovarian Cancer; Family History of Cancer

A year had passed. I had not forgotten the young woman who lost her battle to ovarian cancer. Her smile was still visible and I could almost recall her laugh. Thirty-two-year-old patients are particularly memorable. So few women die that young due to gynecologic malignancies. Many of the details about her final days were still fresh on my mind. In many ways, the more tragic the scenario, the more you remember. But her death in my career was not in vain, for I learned much about the chronic use of chemotherapy and its long term side effects. Things you don't always learn in training. She changed my style of practice. Her bone marrow death in the midst of treatment has to this day, influenced my use of drugs, their duration and their dosing, well past her life—even now. Her death I believe, has helped me help others.

The continuation of this tragic family story came in an unexpected way. The day in which chapter two of this saga started was like any other clinic day. I arrived at work to find a full schedule with a standard number of new patients. I saw a letter from a referring doctor and then looked at the accompanying scans. It seemed quite evident that this new woman I was about to meet had ovarian cancer. The abdomen, from the scan anyway, was full of liquid (ascites). The same fluid the original sister had had when she was diagnosed.

A very ominous sign.

When I opened the door, I immediately recognized the face, but yet I could not place the person sitting across from me. I was just sure I knew her. Then the introduction came. She told me where we had met and my memory was immediately stirred. This was the second of three sisters. Images of her younger sister percolated instantly into my head. Her sibling had not been in the grave even a year from my recollection. A cold shiver moved through me. I suddenly visualized the final discussion I had had with my former patient, when her sisters and mother were there--right before she passed. It was a painful deja vu.

Chapter two with this family did not vary all that much from chapter one. The surgery was performed. A lot of cancer was removed—but not all of it. Thousands of implants fill every nook and cranny of her abdomen. That was her sister’s clinical presentation from my notes. Now the woman who used to come to the office on rare occasion to accompany her sister, practically lived here.

And like her younger sister, chemo was initiated. Remission was achieved, but only to be cut short by a cancer finding the road to resistance. The game of chess was on. We kept trying different moves to fool the cancer and outsmart it, but with time, the malignancy became too strong.

Too unrelenting. Too familiar to her sister’s case.

One by one, we worked through the different combinations of drugs, with different doses and multiple various trials, all while trying to hold onto her bone marrow. I didn't want to repeat the same event that happened to her sister. But in the end, my list of weapons was completely exhausted. We were in check mate.

The woman who at one time was just a family member, now had a place in my own heart. We had become friends and had shared many moments of fun. I was now seeing the pain crossing the mother’s face yet again when I discussed end-of-life matters. The mother was losing the second daughter to the same cancer. I also saw the pain, and personal concern, consuming the remaining sibling. She was probably wondering if she would be next. At one time there were three sisters, then two, and soon to be one. She would stand as the lone survivor. Three daughters, one disease process, and some really bad genetics. An awful recipe. Two dead before the age of forty-five. If they would have only been born about fifteen years later, it might have all been somewhat different. Prevention would have been front and center. Prophylactic intervention would have been offered to the second and third of the sisters, before they might have been found with cancer. It might have all come up with a better outcome. How do you bury two of your children? I can’t imagine burying one.

After the funeral, I asked the third sister to come and see me as a patient. I wasn't going to wait another year. Surgery was offered before the possibility of a third lethal diagnosis. I opened her abdomen only to be surprised by the finding of a mass. And maybe I shouldn't have been surprised. Her ovary had a tumor on it. It was much larger than it should be. I waited nervously as pathology looked at it under the microscope. But this time, the outcome was different. Pathology said it was benign. The third sister would live, at least for now.

The take-home for those reading this is that if you have a history of cancer in your family, it is certainly worthy of a discussion with your primary care physician. Your family history may be a random occurrence, but it may also be more than that. There are so many excellent genetics facilities in the United States today to help you understand your risks. They offer excellent screening and advice. It is important to know that many identifiable genetic abnormalities are what we call autosomal dominant, meaning that half of your children can inherit them as well. And you want them to know if they are at risk. Even in genes like BRCA, the ovarian-breast gene that predominately affects women, can be passed through the male line--yes the male line. And remember, your boys will grow up one day, fall in love, and will father daughters. And half of them will be at risk. Please be tested, for yourself and for them. It is important.

Have you ever had your life touched by losing a sibling to cancer? If so, would you tell your story to our readers?

Family History of Cancer; The Second Sister, and The Third,Larry Puls, (Click to tweet)

Please read part I; Family History of Cancer: A Tale of Three Sisters