On Being Rare

on-being-rareBelieve me, I’ve become used to doctors being unsure about what’s going on with me. Whether it is an overly large tumor or simply not recovering from an infection, doctors of all backgrounds have often been confused when facing me on an examination table.

But now I sometimes feel a bit like a carnival attraction. I can almost hear the carnival barker saying, “Step right up! See the fabulous and amazing PTEN! A rarity in the medical world!”

(I added the “fabulous and amazing” part. Might as well be fabulous and amazing if I’m going to be rare, right?)

Anyway, after my final chemo treatment this week, I met with my radiation oncologist on Friday. She is actually the radiation oncologist who treated my first cancer in 2004, and I am so happy that she is still practicing. She is truly a caring and very intelligent doctor.

We discussed the possibility of my having radiation treatment for a second time. She looked at my reports from twelve years ago and talked about my current cancer. Modern medicine had indeed cured the original triple negative cancer from 2004, but the PTEN mutation has reared its ugly head and produced a different, totally new cancer. Doctors–as well as myself, for that matter–expect a recurrence, but certainly not a new cancer after a length of time in which most patients are declared cancer free.

Again I heard, “Honestly, you just don’t see this happen!”

Of course, one of the major considerations of the treatment is the PTEN mutation. When I first saw her in 2004, this was unknown. My BRCA test was negative, and so nothing more was said about the cancer being hereditary. However, this particular doctor was quite concerned about that possibility due to the particular cluster of cancers in my family history.

And now, twelve years later, we had our answer. As we discussed a second treatment as well as the risks involved, she reassured me that she would bring my case before the hospital’s tumor board and that my case would be thoroughly discussed. I trust her and know that she will care for me in the best way possible.

Behind all of that, though, I detected something else in her questions. Having spent quite a bit of my life around colleges, I could tell there was an element of academic curiosity to all of this. She, along with my other doctors, seem quite excited to find a rare PTEN in their midst. And to get to treat one? Well, that could be a paper in the making.

It is interesting that genetic testing has produced a class of patients like myself. We are the rarities who now sit before doctors who are aware of our particular genetic mutation but still know very little about treating us. Too, we are confronted with paperwork that illustrates elevated risks for cancer–including the risk for breast cancer, which is extremely high–and are asked to make treatment decisions based on those risks, even if there is currently no evidence of disease in that part of our body.

In some ways, I suppose, there is an element of the Wild West to it all. Genetic testing and treatments are still pretty new, and we as the patients with rare syndromes face off with a gunslinger who has more knowledge about us than we do. But indeed we do step out into the street, armed with the treatments available to us and stand in front of our disease.

And that’s courage.

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