Genetics, some background and what we ALL should know

It was overwhelmed first hearing I had cancer.  My reaction was to immediately break down everything into next steps.  What could I do?  What should I do?  How could I begin to move through this?  The sooner I could move, the sooner I could move through, to the other side.  I just wanted to be done.  And if I could schedule surgery right before spring break, all the better.

In figuring out first and next steps, I needed to chunk everything into manageable pieces of information and action.  I can't process as much as I used to, and I can't process as quickly, so I worked to focus on necessary things first.  In using this approach, I did ask about genetics, at several junctures, and based upon those conversations, I determine it was something I could put off. That wasn't quite right.  It wasn't until about 3 weeks after I received my initial diagnosis that someone (2 someones, actually) told me that yes, I should really think seriously about genetic counseling, what that means, and why I should do it.

It surprises me how poor communication about genetic counseling/testing is.  I imagine we've all heard of it, at least if we have had folks with cancer in our lives.  We may have also heard about it in the media.  Prior to some recent education, I held the following assumptions about genetic testing:

1. I thought it was cost-prohibitive, multiple thousands of dollars to do a gene panel. 
2. I thought it was unwise from a health insurance pov; if I got genetic testing and something came back as a problem, I was afraid I’d be denied coverage or that coverage costs would skyrocket (thanks again, US healthcare “system"). 
3. I thought there wasn’t enough cancer in my family or not the right kinds of cancer to make testing worthwhile. 
4. I was told that genetic testing would not change my treatment or my screening practices in any way, since I already have a cancer diagnosis.

Everything I thought was WRONG! What I was told was only partially correct. Let's dig into some details.

1. Costs: Given my age at diagnosis and my family history, in all likelihood insurance will cover my testing (a panel of over 70 genes).  If insurance does not cover it, it will only cost $250!
2. I was also afraid that if I got genetic testing and mutations came back that it would negatively effect my health insurance.  Now, it could negatively effect life or long term care insurance, but thanks to the Genetic Information Non-discrimination Act (GINA), my workplace and my health insurance cannot discriminate against me based on my genetic information.
3. We have a straight line of cancer in my family going back 3 generations, though I am the first breast cancer patient, to my knowledge.  According to my genetic counseling, these different types of cancer can have a link, especially if one has Eastern European heritage (as I do).  That, plus my age of diagnosis mean genetic testing is appropriate in my case.
4. Lastly, there is the question of genetic testing and my treatment and my life after cancer.  Statistically, most breast cancers are NOT connected to genetic mutations.  But…5-10% of breast cancers are hereditary and based on gene mutations.  There are the relatively well known BRCA1 and BRCA2 genes, but there are others.  If breast cancer is connected to one particular genetic mutation, radiation therapy is contraindicated.  Another gene is connected to colon, prostate, and breast cancers.  Knowing this information could affect my surgical and treatment choices as well as the kind of screening I do post-treatment.

Now, I'm not saying that everyone should get genetic testing. That is a very personally decision, and I respect that not everyone wants that information. (I don't necessarily understand that choice, but everyone has a right to make it.) I do think, though, that genetic testing needs to be demystified. Of course, I think that about a lot of things. 🙂

Sources: https://www.ashg.org/advocacy/gina/

https://tinyurl.com/y3hcysev (Breast Cancer Risk Factors You Can't Change)

Genetics and moving forward

Tldr: my cancer genetics came back clean.

About 2 weeks after the blood draw for my genetics testing, the results came in.  When I asked the caller to hold on while I got a pen and some paper, she said, “sure, but you won’t need it.”  Everything was negative.  I got the “Cancer Expanded” panel done, and the 77 genes in that panel all came back normal.  No mutations in BRCA 1 or 2, CHEK, PTEN, or any of the others that were tested.  Of course, genetics are always changing, so it is possible that 15 years from now a mutation will be discovered on a different gene, and I may have that one, but as of right now, there is no science that indicates a genetic link to my breast cancer (in spite of my own breast cancer under 50, and colon, prostate, and kidney cancer in the family).

This is good news for Amelia and good news for life and long term care insurance down the road.  And it’s good news in terms of my cancer; my treatment choices do not need to be driven by genetics or a greater than average chance of more cancer.

Of course, it does make me wonder a little–why me?  My BMI is mostly healthy.  I’ve never smoked, only drink a couple of times a month.  I don’t think I have the usual risk factors for cancer, so…

The biggest relief to me (other than Amelia) is that I do not need a bilateral mastectomy.  I wasn’t quite ready for that.

So, moving forward, we treat the cancer surgically and a few lymph nodes will be removed to see if any cancer spread to them.  I will definitely be on hormone therapy for a minimum of 5 years (Tamoxifen, from what I hear, though I’ll know for sure after I speak to a medical oncologist).  Once the tumor and lymph nodes are removed, they will be sent to pathology.  Pathology results will determine any need for radiation or chemotherapy.  And mixed in there will be reconstruction, which is going to be more involved and take more time than I initially hoped.  

I can’t rush through to the end of this and pretend like it never happened.  So, I’m going to make damn sure (in as much as it is possible), that when my active treatment is done, I feel good about where I end up.

Surgical Consult #3; Plastic Consult #1

 Tldr: If you want to feel weird about your body, talk to a plastic surgeon. Also, if it wasn't true before, this post totally counts as oversharing. #sorrynotsorry

Two more good consults today–breast surgeon #3 and plastic surgeon #1.  Plastic surgery consult #2 is later this week, but the way that practice works, I will not see the surgeon; his PAs do his consults.  If they can answer my questions, great.  If not, that in itself may be an answer.

I am very grateful that I am at a point in this journey where I have all good medical options, well, at least options as good as the cancer and my anatomy allow. 😉 

Today’s plastic surgery consult was fascinating.  It is so interesting to be going through this process as someone who is relatively content with her body.  The irony is not lost on me.  This is an opportunity to remake my body.  Having this opportunity makes me realize I’d kinda like to keep it the way it is, flaws and all.  😏 That is no longer an option, so how can I make this work for me in the best way possible?

If you don’t want to hear the anatomical details about my breasts, you should probably stop right here.

Deflated, pendicular, petite, uniquely shaped, widely spaced, pointy, triangular.  These were all the words used to describe the girls, poor things.  They are small enough that a lumpectomy will leave my left breast “deformed” (that has been the word used by at least 3 of the doctors).  There simply isn’t enough volume to the breast for there to be a cosmetically successful result in terms of a lumpectomy, and it would be cosmetically unsuccessful in multiple ways (asymmetrical, pulling down, etc.).  There are other options, but the one that appears to be the best at this point would be a single mastectomy, removing the affected breast, reconstructing that area post mastectomy, and doing some work on righty to make her match, in so far as that is possible.

Today’s breast surgeon described my cancer as “vanilla,” the kind of cancer you want, if you have to get cancer.  If my cancer is vanilla, the anatomy of my breasts is some kind of crazy sundae, with odd toppings.  They in no way make any kind of implant that fits the natural shape of my breast, at least according to plastic surgeon number #1.  It will be tricky to find implants the correct size.  It will be challenging to make the girls match.  Plastic surgeon #1 didn’t use the words "tricky" or "challenging", but they were clearly implied.  The girls won’t be twins, but hopefully they’ll be closer than cousins.  Sisters?  (The plastic surgeon did use this analogy.)

One random, good, thing about Plastic Surgeon #1– he appreciated how prepared I was for the consult, commented that it was more of a conversation rather than he and his PA talking at me.  I told him–doctors either appreciate me as a patient or they don’t. 🤷🙂

So, that is today’s update.  Early afternoon Friday is another (hopefully last) plastic surgery consult.  With that, I hope to have all the information I need to move forward and start the journey of putting the cancer behind me.

A few brief words about my poor, maligned breasts--  I fought long and hard to breastfeed my NICU baby.  With support from 2-3 very important people and while surrounded by lots of naysayers, I persevered.  The girls did a fantastic job of feeding my daughter for 22 months, and for that, I will be forever grateful.

Surgical consult #2

 Hi!  I’ve got a bunch of different posts in progress but none quite in shape to put up yet.  Here’s another quick and dirty update.

Busy week ahead on the cancer front (and on the work front and on the church front and…you get the picture).  I had a surgical consult this morning and will have its matching plastic surgeon consult Wednesday afternoon.  I have another consult with a different surgeon Wednesday morning, with what I also believe will be a matching plastic surgeon consult at that time.

Busy, busy!

Today’s consult went very well.  (And thank the sweet baby Jesus, because I’m honestly still reeling from the first, unsuccessful consult.  Feeling sick and panicky every damn time I need to see someone about this crap. Stress-related high blood pressure? It's a real thing.)  Today’s doc really took time to make sure I had a good grasp of my situation as well as how she works.  The patient is completely in the driver’s seat when it comes to choices for treatment, but this particular doctor is very clear in what the risks/percentages are.  So much of cancer, like life, is a risk tolerance/risk-benefit exercise.  She also has an opinion regarding my options and clearly shares it, without pressure.  The surgeon spent about 40-45 minutes with us, and I feel like we have the beginning of a game plan.  It can only be the beginning because I’m still waiting on genetic information and the perspective of the plastic surgeon.

Spoiler alert: small breasts have a large impact.  😁 Basically, the fact that there is less material to work with affects the choices one has as well as the end cosmetic result. In short, small breasts are a PITA (pain in the ass) in general, and that is no different when it comes to breast cancer. 

From the very beginning, I’ve been quite clear about my priorities in all of this: Number 1:  obviously (I hope!)- I want the best possible result, understanding there are no guarantees.  That means I want to get rid of the cancer in as far as that is possible and minimize the possibility of recurrence.  Number 2: I want to look “normal” under my clothes.  I’m good with scarring.  I’m far less good with asymmetry.  I don’t want to feel like every time I look at myself my body is going to shout: CANCER!!  I don’t think I’m particularly vain,. I may even be less vain than the “average” woman, whoever she is.  However, it’s taken me more than 45 years to be relatively happy and comfortable with my appearance.  I don’t want an experience with breast cancer to rob me of that hard-won perspective.

We’ll see how my (hopefully last) consult goes.

SN: it is super duper weird to be talking so casually about the size of my breasts.

Consults 2 & 3?

Quick update:

Consult #2 postponed because surgeon is sick.  (I suspect the upper respiratory crud that is making the rounds, but that is just my suspicion.)  To be rescheduled.

Consult #3 scheduled with different surgeon for 1 week from today, on April 13.

I'm not any closer to any answers, but maybe one of my upcoming consults will help me find my way to them.

Tired

Tired.  And I shouldn’t be.  I have amazing, humbling love and support from everyone around me.  Haven’t started doing anything against this bugger.  And yet…  

I’m already tired from having to figure out medical care, babysit and double check my records and what I’m being “advised.”  I’m tired of being ghosted on Zooms, wasting time waiting, then using more time to reschedule.  Tired from having to make high-stake decisions with no clear cut factors to weigh.  I’m tired of consults.  And nowhere near done yet.  I’m tired of the work of managing all of this.

Love you guys, and I feel your support.  Just tired in my spirit today.

Consult #2 tomorrow.

Fear

    What am I afraid of?  I’m afraid of regret.  I’m afraid of remorse.  I’m afraid of being wrong.  My whole life, I’ve always been so afraid of being wrong.  I could probably use a whole lot of therapy to fix that, but there you have it.  As I’m progressing through the beginning of this experience, I need to name it.  I said to myself this morning:  you need to articulate your fear.  Get it out there.

    I’m afraid of making the wrong surgical decision.  

    I’m afraid of making the choice, coming out on the other side, and wishing I had chosen differently.  Everything that I’ve read so far indicates that in terms of prognosis in my case (i.e. not dying of breast cancer), lumpectomy+radiation or mastectomy+maybe radiation (if necessary based on tumor pathology) are equal.  The lumpectomy route has a slightly higher risk of recurrence but it is very slight and does not indicate increased mortality.

    No one will tell me what to do.  No one will even give me an opinion.  I get that it is my decision, but sometimes I wish someone, even more than one someone, would weigh in.  I love taking polls, getting other people’s perspective.  But it’s more than that–maybe others have thought of something I haven’t.  Maybe they have a perspective that will adjust my own, helping me to make a better decision.  I am confident that I am not unduly swayed by others, but I really do value what other people see/think.

    Lots to consider.

    Pay now or pay later?  

    I’ve never been good at taking the time to “be sick.”  I’ve always believed in using my allotted sick days very judiciously.  After all, you never know when tragedy could strike.  Don’t waste a sick day on a cold.  Save it!  You could get cancer. 😜

    And now that the time to use sick time is here, I still don’t want to.  I want a quick procedure, a quick recovery, and to get on to doing.  Part of that is me, part of that, I think, is the notion of cancer.  Cut that sucker out as soon as possible and keep it moving.  Keep everything simple, recover quickly.  The sooner I’m “recovered,” the sooner I can move on, the easier it is to pretend that none of this matters.

    Am I rushing into lumpectomy to minimize the impact of cancer on my life?  To choose the quickest recovery?

    Is vanity enough of a reason to choose a more involved procedure when there is no substantive medical benefit? Is it really vanity, or is it something else?

    How does one tell what is best?

    It doesn’t fit exactly, but one of my favorite songs is “On the Steps of the Palace” from Into the Woods by Stephen Sondheim.  It’s about many things, including thorny (sticky? 😁) decisions.  I think of that song, and I think of my beloved 7th and 8th grade English teacher, Mr. Michael Spata (who I never have been able to find online).  One of the things we discussed was decisionmaking;  choosing to not make a decision is in itself a decision.  I do not have that luxury in this situation.

(Not the best camera work in the video, but I really loved this performance.)