A plea to oncologists to confront the treatment of rare diseases

A plea to oncologists to confront the treatment of rare diseasesI only met her once; she was young—in her mid-thirties—and she had been diagnosed with ovarian cancer during her pregnancy. Following chemotherapy and the delivery of a healthy baby, she underwent a hysterectomy and staging. She was ultimately diagnosed with a rare ovarian cancer: small cell carcinoma. She underwent postoperative chemotherapy and had gone into remission.

Unfortunately, it was short lived, and she had been referred to me following her recurrence. I still remember that meeting—she looked scared but remarkably well; the only sign of cancer was the lack of hair on her head. She was nervous, searching for answers, desperately trying to remain hopeful, in control.

We discussed statistics, prognosis, treatments. I struggled to answer her questions; she had wanted specific information about small cell carcinomas of the ovary: what did it mean that she had recurred? What should be done to treat this type of cancer? I had told her it was not curable and that one day (hopefully not soon) she would likely succumb to her disease. But, she was a new mother—she wanted to fight, to explore every option.

We talked about standard treatments and clinical trials. Her tumor was rare—any experience in treating women with this cancer (including mine) was anecdotal. A path to remission, a direction towards the most promising treatment for her cancer was unknown.

At the end of the day, I am not sure I helped very much. I recommended a standard treatment approach; one that worked for ovarian cancer in general. She was eligible for several clinical trials, though none of them were specifically for small cell carcinoma. I gave her informed consents for a couple of studies and asked her to consider them. I told her I would keep my eye out for anything promising, or else she could see me again if there was a need to switch her current treatment.

As she walked out of my office, I was overcome by the unfairness of her situation, of life itself. Why would she be dealt this particular card? She who had just become a mother? Despite our work on genetic susceptibility and risk factors, we cannot predict who specifically will go on to be diagnosed with cancer, let alone what type of cancer they will develop. There are limitations to what the evidence tells us in oncology, particularly when it comes to rare tumor histologies like hers.

I was reminded of this patient and this encounter when I read an article entitled, “Lack of Data” by Dr. Julie Maher. Dr. Maher was a physician and, like my patient, a new mother. Like my patient, she was also diagnosed with small cell carcinoma, although in her case, it began in the cervix. She discusses her diagnosis and then her recurrence, treatments, and searching for ways to treat her cancer. She lamented the lack of evidence-based data to help guide the treatment of rare tumors.

There is a plea in Dr. Maher’s piece for the oncology community to confront the treatment of rare diseases. How to do this is challenging because randomized clinical trials (the evidence-based gold standard) will take time—a lot of time. Still, there is a concerted effort underway to address rare tumors. As an example, the Gynecologic Oncology Group (GOG) has assembled the Rare Tumor Working Group to conduct these trials.

But what Dr. Maher is asking for is a much more immediate solution than even what the GOG has implemented, because she (and my own patient) did not have the luxury of time. Indeed, both Dr. Maher and my patient ultimately succumbed to their cancer. I must admit, even to this day, I lament not being more helpful in guiding my own patient in an “evidence-based” direction (because the evidence does not exist).

I encourage all to read Dr. Maher’s piece, as the words come from one of “us,” taken all too soon. As an oncologist who has devoted himself to the treatment of women’s cancers, I am interested in how to respond to her call for action. Indeed, it is a discussion I am ready to be a part of.

Don S. Dizon is an oncologist who blogs at ASCO Connection, where this post originally appeared.

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