The Genetic Frontier

genetic-frontierThe advance of medicine within my lifetime alone has been incredible. And the information available to patients? Comprehensive, to say the least.

(Obviously, as with my post from yesterday, our own coping mechanisms may limit the information that we seek, but it’s still there if we want to search it out.)

When my parents were both diagnosed with cancer in 1992, there were no “patient rights,” and very little information was relayed about the diagnosis and treatment options. We were told “cancer” and left to wonder what the future would bring as far as surgery and treatment.

Now the newly diagnosed cancer patient is given a great deal of information, everything ranging from tumor grade and type to the extent of possible metastasis. Treatments have advanced as well, becoming more targeted and precise.

And the new frontier? Genetic testing and counseling. BRCA is obviously the most famous gene mutation in regards to breast cancer, but other mutations exist that increase cancer risk as well as produce tumors. My particular mutation is PTEN, which has led to numerous symptoms over the years, including my current cancer.

Genetic testing, however, is often just part of the equation. For those of us who are a bit “weird,” with a mutation less understood than BRCA, we can often flounder in our attempts at research as little information exists. Also even the information that we do have access to is often way beyond the understanding of a layman.

And that’s where genetic counseling comes in. I had my first genetic counseling appointment today by phone. We discussed my family history, my own medical history, and plans for treatment and future scans.

Based on the genetic test results and the information that I provided, she confirmed what I already suspected, that my particular “expression” of the PTEN mutation was indeed Cowden Syndrome. At least now I have a name–rather than just the name of the mutation–for this endless array of symptoms that I have lived with my entire lifetime. This latest cancer is only the most recent thing to come about due to this mutation.

Even the counselor, though, could not answer all of my questions. Perhaps with time the research will advance further on PTEN, and I’ll get a few more answers. And maybe the information that we older patients provide along the way will benefit the pediatric patients who will grow up with more knowledge about their bodies and their illness than we ever thought possible.

For now, though, our focus is on my cancer. When asked if there was anything else I should be doing in regards to treating it, the counselor simply said to go “as aggressive as possible.” Slash and burn, slash and burn. And as far as recurrence? I told her I was skeptical when the local doctors assured me that I would become “cancer free” after treatment, considering the PTEN mutation, two cancers before age 50, and the fact that this current cancer is Stage 3. She was quiet for a bit and said that she agreed with my assessment.

Meaning that due to this mutation, no matter how aggressive we go in treatment, what would cure another patient may simply delay another tumor in me.

I’ve been thinking a lot about this scripture today:

“I knew you before I formed you in your mother’s womb….” –Jeremiah 1:5

Doubt is making me wonder about these genetic mutations and God’s goodness. When He formed us as a baby and saw the suffering that lay before us…I guess I just don’t understand. Why wouldn’t He want to prevent these mutations from occurring when they would wreck our lives and our bodies?

I know a lot of this is simply unanswerable. Perhaps it’s just fatigue from all that’s happened over the past several months. I guess this is where faith gets tested.

Denial and the (Often) Bumpy Journey of Breast Cancer

denial-imageWhen I was first diagnosed with breast cancer in 2004, I found out just how powerful denial can be. Even though both my husband and I had heard the surgeon relay the results of the biopsy, I became convinced that I had misheard her. My mind spun all sorts of scenarios about how the biopsy results were mistaken, or perhaps they just had the wrong girl.

Well, I unfortunately was the one who was mistaken, and my swimming into the depths of denial only delayed my acceptance of the diagnosis.

And now in 2016? My brain still resorts to it. Seriously. You would think I would know better by now, but evidently not.

When the lesions first began appearing on my breast, I was convinced it was simply an infection caused by a cat scratch. Although my general practitioner was dubious, she let me take antibiotics to see if it healed. It didn’t.

Even as I sat in the surgeon’s office back in July, I was still telling myself it was simply an infection. Perhaps it wasn’t healing as I had had radiation treatment to that area in the past. Perhaps.

The surgeon was sure from its appearance, however, that it was indeed cancer. Not a recurrence, we discovered, but a brand spanking new type of cancer, inflammatory breast cancer.

Thanks PTEN for all the tumors that you have brought me.

Anyway, even after this latest cancer diagnosis, I was evidently still operating under the influence of denial. Or maybe just a faulty assumption. As the initial scans only showed the possibility that one lymph node might be involved–and at the time they strongly suspected the punch biopsy might be the cause of the swelling–I believed that the surgery and lymph node biopsies would find that I was only Stage 1.

I never directly asked the surgeon or the oncologists what stage my cancer might be. 

If you know me personally, you know I love to do research and know as much as possible about a topic. It is rather odd for me to behave this way, but I did.

And now, today I had my final appointment with the surgeon before my bilateral mastectomy surgery on December 13. The swelling of my breasts has decreased dramatically since the chemotherapy, and so she was able to do a full breast exam as well as feel the lymph nodes. At least two were swollen, and so she confirmed on ultrasound that these most likely were cancerous.

I asked her quietly, “So does this make my cancer Stage 2?” “No,” she said, “it’s been Stage 3 all along.”

Apparently when the skin is involved in breast cancer, as in inflammatory breast cancer, it’s automatically Stage 3.  I realized how I had been operating the entire time on yet another faulty assumption. And now, I have to tell my friends and loved ones that my cancer is considered more advanced than I ever realized.

Denial can be a powerful coping mechanism, even for those of us who should know better. And it simply makes the journey to better health even more bumpy than it should be.

I’m still trying to wrap my head around the Stage 3 diagnosis. I guess I have a week or so to get used to it as I wait for my surgery. This year has been a rocky road indeed.