Down the Rabbit Hole

tommy-with-textIt’s not every day you find out you have a rare genetic disorder.

Granted, I had already had one genetic test in 2004 after my first diagnosis of breast cancer, but at that time the tests were limited to BRCA. Considering the strong history of cancer in my family, I had expected a positive result. The BRCA test was negative, and my cancer treatment continued on as expected.

Fast forward to July 2016, all timey wimey like.

A punch biopsy revealed that the lesions on my breast were inflammatory breast cancer.

Seriously? Again?

I began chemo as there were indications that the cancer had already spread to my lymphatic system. Meanwhile, the surgeon and oncologist urged me to consider another genetic test.

“I’ve already done that,” I said. “It was negative.”

They talked about the advances that had been made in the tests, and I began to feel numb. That sort of numbness that drowns out all of the medical jargon and recommendations, just leaving you with a steady, unending thought of “Why?” That drawing into oneself, wanting to escape into the before time, that time of remission and work and normalcy and fun.

I signed the papers and let them draw the blood, expecting another negative result. That was not going to be the case this time.

Sitting in the oncologist’s office after my first chemo treatment, I listened as he went over the results of the genetics test. A “clinically significant mutation,” leaving me with extraordinary risks for a variety of cancers. The numbness returned as he showed me the abnormally high numbers and began to discuss surgery recommendations and my future life full of scans and tests and whatnot. I just sat there, not knowing any more to say.

It was only later, after a week or so of sleep and worry and reading that the numbness began to fade. I looked at the paperwork again and began to do what I do best: research.

Under the large red banner on the first page of the results, below the words “High Cancer Risk,” I found my own entrance to the rabbit hole. The genetic test results showed that I had PTEN Hamartoma Tumor Syndrome. Reading the symptoms and diagnostic criteria for this disorder, I realized that this one blood test had given me the key to understanding my whole strange medical history. And this syndrome was most definitely why the cancer kept returning.

I’m still fighting the numbness, urging myself toward accepting this new normal. Weirdness perhaps can become commonplace eventually.

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