Cancer: Genetic Testing

The instructions I received before (free) genetic counseling (and my insurance covered the testing) was that there would be no drinking water, eating anything or chewing gum during the hour to hour and a half appointment? What?  I mean, first off, would you NEED to eat and drink during an hour and a half?  And second, WHY NOT?

One also has to fill out an extensive family history form. I left a lot of blanks. My folks didn't report to children about causes of death much, even if they knew them. I thought my form was sparse, but the counselor said it was pretty good. What I particularly noted was that while there wasn't a ton of cancer in my family, people were dropping like flies from heart attacks! All that tasty pastrami, liver pate and tongue took their toll.

The reason my doctors strongly recommended genetic testing is that I am of Ashkenazi (eastern European Jewish) decent. One in 40 Ashkenazi Jews carry the BRAC 1 or BRAC 2 (breast cancer) marker. This figure is somewhat higher than the general population.  Okay, I took notes as fast as I could, but the exact percentage difference fell through the cracks.  Gimme a break!  

The counselor noticed on my family history is that we don’t have a lot of girls which may be the reason why we don’t have a lot of breast cancer.. The other thing was that breast cancer in the 30s and 40s tends to indicate presence of breast cancer genes.  Our instances of breast cancer had later onset.  One mark for me on the positive side of the ledger.  (Or, hmmm, the negative side, depending on how you read it.  Oh, never mind!)  

While BRAC 1 and BRAC 2 are the most common genes, there are a total of 24 genetic markers!    Yikes!  They’re not really genes, though, they’re genetic mutations, and they’re discovering more all the time!  Is this a Darwinian way of winnowing the human herd?  That seems harsh.  

Should I have one of the high risk cancer genes, my direct blood relatives would each have a 50% chance of being carriers.  Along with breast cancer, these genes indicate a higher risk of ovarian (but not cervical) cancer. Not many males get breast cancer, but they would be at a 20%-50% higher risk of prostate cancer.  

A lot of research has been done on the four highest-risk cancer genes. Less is known about the others. Whether you choose to be tested for any or all, it's done at the same time with the same sample, no further fuss for you. I choose to be tested for only the top four:

             Gene                                            Associated Cancer

BRAC 1 and BRAC 2          45%-87% increase in breast, ovarian, pancreatic, prostate and                                               male breast cancer

CDH1 breast,                       39%-52% increase in breast, gastric and colorectal

PTEN                                   Up to 50% increase in breast, thyroid, uterine, colorectal, kidney

TP53                                    no % assigned, significant increase in breast, sarcoma, brain (!),                                              adrenocortical, and others (and OTHERS?!!) 

The most surprising thing I learned during counseling was that even if you carry the BRAC 1 and 2 genes, there are two methods of treatment with EQUAL OUTCOMES. Yes, if you are young and want to be sure you don’t have a lifetime of worry ahead of you, you may opt for a mastectomy. That removes absolutely all risk of breast cancer and, obviously, metastasis. However, you can also opt for twice-a-year mammograms, MRIs and clinical exams, keeping on top of the beginning of any cancer. The outcome to your health and life-expectancy are the same. Wow, I did not know that.  I was surprised at what a relief that was.

You will receive one of three possible results.

Guess what? Testing is not about blood at all. Now my veins like to play roll-away from a needle, and no blood flows out. Sometimes the needle hits the vein wall which hurts, and no blood flows out. If I’m pretty well hydrated, a skilled phlebotomist with a pediatric needle can zoop right in there, but otherwise, I’m in for a prolonged, multi-stick session. Score! They don’t take blood for genetic testing.

They don’t take a cheek swab either. This is not a crime show. Nope, instead the counselor opened up a compact case to reveal two small tubes with mouth pieces. You have to fill each one with spit. At least now the no-gum/water/food rule makes sense: they don’t want anything to taint the results.

You spit and you spit and you spit. Although I’m sure this would be quite a treat for the counselor to watch, she turned to her computer. My job is to fill about a ¼ inch space in each tube with saliva. It takes a while, and it’s messy. The box of Kleenex I thought was for weepy patients (and it might well be) was what I used to keep spittle from running down my chin. Not much did, though. The task was daunting enough for me to make sure that no drop is wasted.

The first line is just above the white label area.

You have to fill it to the black line.  

The counselor showed me how to seal each tube as it was completed. Now I wait.

There are three possible results.

          Positive: a clear genetic mutation with associated cancer risk.

          Negative and winner of the prize: no genetic mutation.

          Variant (under 10% of the results, and the one most likely to make you crazy): This is           not the basis for a movie plot. It means they found some weird genetic change,  

          something they’ve never seen before and don’t know what it means. I have already

          decided that if I get a Variant result, I am totally blowing it off.

And wait.

Still waiting -- for two to three weeks.

But I am not going to make you wait because that’s just the kind of person I am. In any case, my results came in early, and I only had to wait two weeks.  I am not a mutant 

Most of my relief is that I don’t have cancer-related genes. The rest of my relief is that I won’t have 50 million more medical appointments to deal with! Yay!

Have I been bored in the weeks between completing radiation and getting my genetic test results? Oh, no, I have not been bored. During that time a very dear friend, one for whom I hold Powers of Attorney, climbed up on the railing of the Good Ship Sanity and fell overboard into the sea of massive infection and mental confusion. You know, just so I don’t run out of material to blog about. Oh, yeah, that’ll be next.

Cancer: Diagnosis Part I

 I deliberated long and hard about posting this entry.   Not everyone shares my sardonic sense of humor.   (In fact, have you noticed, some people have no sense of humor at all.)  I do not want to upset or offend anyone.  I was hesitant, even with this disclaimer.  However, a friend of mine with a similar experience urged me to go through with it, so here we go.

I became apprehensive when they completed my follow-up mammogram  by walking me down the hall for one with ultrasound.  The ultrasound exam room had a lot more fancy equipment, but the exam table was the same.  I lay down on it and turned on my right side so the technician could view my left.  Her wand looked a rather like a grocery store scanner, and I asked her to turn the screen so I could see the image.   As she scanned my breast, even I could discern the distinct mass on the image.  I wanted to schedule surgery right then; if there was any kind of lump in me, I wanted it out.  The technician reasonably told me that they had to learn more before digging around. 

Two days later I was back at the hospital, a capable nurse explaining how, once my breast was numb, the guide wire would be inserted and the biopsy tool would follow, making a loud click-clack each time she took a sample.  Three truly loud clickety-clacks followed, with me craning my neck to watch the screen.  I know, I know, not everyone wants to see their medical tests being performed, but I like to KNOW!

When they called me with the results, I walked around in shock.  “I have a lump in my breast, and it’s cancerous.  I have a lump in my breast, and it’s cancerous.”  After 24 hours the news sunk in with a thud:  “Holy $*#%!   I have breast cancer!”

I had a Stage 1, non-aggressive, invasive ductal carcinoma.  In person-speak, this means the cancer began in a milk duct and then seeped out.  The lump was small and slow-growing (relatively speaking.  I learned that a on average, a breast tumor doubles every 100 days!).   This was good news as far as bad news goes. 

The speed with which medical things happen is in direct correlation with the severity of the illness.  It took me less 24 hours to get an appointment with the breast surgeon. (And just a brief note of appreciation here:  the nurse at my primary care office called me back within an hour with a recommendation that matched one from the hospital, and my physician called me that evening just to talk!)   

My breast surgeon is fantastic.  She is both skilled and nice.  I would much rather go out for cocktails with her than bare my breast, so to speak.   Her first step to removing all doubts about my diagnosis was to send me for a breast MRI.

The breast MRI is a unique and bizarre test.  I mean, I’ve had MRIs before.  I am not claustrophobic.  I crawl inside that tube with complete serenity.  I get so comfortable, in fact, that the MRI drum beat puts me to sleep.  But a breast MRI?  Oh, so different.

First of all, as I found out when I arrived at the hospital, this was an MRI “with contrast.”  I discovered that “with contrast” means they inject dye into a vein so that the MRI can be taken while the die infuses and defuses.  This might not matter for you, but my appointment was first thing in the morning, and had I known, I would have drunk two glasses of water when I got up.  When I’m dehydrated, my veins collapse like deflated balloons.  It took two technicians and four tries to get the line inserted.  And, yes, I watched every try.   It didn’t hurt much, but it was damn frustrating.

You walk into the MRI room with your IV lines dangling and arrange yourself on the platform which is slightly tilted head down.  You can’t lie on your back because then your breasts will pancake.  To get clear images, you have to lay face-down with a headrest rather like that on a massage table.  Unlike a massage table, however, there are two square openings in the platform at chest level.  “Square,” the nurse affirms, “must have been designed by a man.”  The square holes are HUGE:  designed by a man for sure.  You fit yourself into the holes, and the technician gently tugs your breast through and positions them for an optimum portrait. 

There you lie, your round pegs dangling through the square holes.  The platform slides into the MRI tube.  You feel like the star of some weird porn movie.  The machine clicks and ratchets and pounds. Your sternum hurts because it is taking all your weight between the square holes; your forehead hurts because your head is heavy.  Between rounds, you try to subtly adjust yourself, but the nurse cautions you to hold still.  This is a half hour when people pray or meditate or visualize or, you know, write blog posts in their heads. 

The test was to confirm that the cancer had not spread.   My surgeon warned me that a lot of little things show up when they do an MRI, things that are not important and they are not looking for.  She warned me not to freak out when such images were reported.   The results were due back in two days.
Waiting is the worst; at least, you hope it is the worst.