When Dad Undergoes BRCA Testing

* UPDATE: I am negative for the BRCA gene.

Breast Cancer Awareness Month means a great deal in our house. It’s not just another reason to re-post something on Social Media and forget about it. Here’s why. 

My wife, Heather, lost her Mother to cancer. Susan was 41, and Heather was only 13. Heather’s grandmother also had cancer in her lifetime, and if you’ve read Heather’s blog and social media posts, you’ll know about the elective, preventive measures she’s taken to reduce her risk. She has also written two children’s books based off the conversations we’ve had with our own kids. The goal is to help other kids who might be going through the same issues and having the same questions. 

I’m so proud of the active stance Heather takes related to matters relating to breast cancer. She gets herself out there and tries to help who she can by sharing her story. She uses social media, blogs, shows up as a guest on podcasts and video interviews. She really walks the talk. So, what can I do to show my support this October? Well, I decided to get tested myself. After all, my paternal grandmother died of cancer, and both my father and his only brother have dealt with prostate cancer themselves. So today, I spit in a test tube and my doctor will ship my DNA off for testing for BRCA1 and BRCA2. 

Genetic testing isn’t new to our family. Heather was tested for the BRCA mutation years ago as was her Grandmother while she was still alive. Fast forward to last year, I myself was tested (via 23andMe) in search for explanations regarding my own health. I learned a few things related to my own health, such as a genetic variant in the MTHFR gene which won’t allow my body to process folic acid the same way “normal” people do. But I digress. 

This isn’t just a test for how my body metabolizes a B Vitamin. We’re talking about looking for a predisposition to deadly disease. I must admit that I’m a little nervous. However, I’ve always preferred knowing. I’m the guy who would rather people be honest and upfront with me now, even if potentially difficult to accept, to avoid hurt feelings later. I’d rather know, and as the G.I. Joe series told me when I was a kid, “Knowing is half the battle!” Go Joe.

Oddly, the anxiety I have is from what the results means to those around me. My wife has already been through so much. Because she’s positive for the BRCA1 mutation, she already worries about the 50% chance each of our kids carries that same mutation. What happens if I, too, have that mutation?  What about any of the other 30 genes that for which Colors tests? I really don’t want her to stress even more, but I also know she’s happy she found out. And of course, we’ve discussed this, so I’m confident she’ll be okay.

What about telling my kids? Yes, I want to know, but do I share my results with our children? They already have some burden knowing that they have increased risk. At 10, 12 and 14 years old, are they ready for the additional weight on their little shoulders of knowing there could be others? We’ve asked about BRCA and whether they would want to know, and when. Two of them want to know. One, the youngest, doesn’t want to know her own results. The good news is that they are all willing to talk about it. At least we’re talking about it.

Then there’s my only sibling; my brother. Obviously he potentially carries any mutation or variant that I carry since it would have been passed from one of our parents, and he also has three kids of his own. The weight of this decision spreads across the branches of the family tree. 

Lastly, something my wife hasn’t experienced herself as her parents died many years before genetic testing was available; the guilt my parents could carry from knowing it’s passed from them. Not that they should feel guilty, of course. It’s nobody’s fault. If we worry about passing on “broken” genes we’ll stop populating Earth altogether. Probably not a good choice. However, I already know that it’s difficult to know that my son has the same MTHFR variant as me, and I can’t help but feel some responsibility. 

Occasionally this Winston Churchill quote surfaces;

“The truth is incontrovertible. Malice may attack it, ignorance may deride it, but in the end, there it is.”  

It means we can’t deny truth, whether we choose to know it or not. Facts don’t discriminate. Sometimes we fool ourselves into thinking ignorance is bliss, but the fact is that ignorance can harm, or even kill us. 

Truth empowers us. It allows us to take meaningful action, even if at first it hurts.

Heather and I made the decision to KNOW all those years ago so that she could do everything in her power to live a long  life with our kids, something her mom and dad were denied. I’m sure that they would have done exactly what Heather has done; they would have taken every measure available to them to extend their own lives. It goes without saying that Heather wants to be there for every graduation ceremony, wedding, and someday the birth of our grandchildren. So do I. And if I can be given information on how to increase those odds, I’m game. 

Another important thing for me, and my advice to anybody making these choices, is to seek genetic counseling. As I read the Color Genomics consent form this morning (I know, who ACTUALLY reads those?), I noted that they offer genetic counseling at no extra cost. This is a huge bonus in my opinion. My doctor provides great counsel in the context of how we can use it to holistically address my health, but I will absolutely contact Color and take advantage of that genetic counseling service. Our BRCA journey started with an amazing team of counselors and physicians from Huntsman Cancer Institute in Salt Lake City, Utah. The team there, over 13 years ago now, set the stage for taking an informed approach to all we do. They helped us navigate considerations that we hadn’t thought about. These thought provoking discussions have helped us better manage our own expectations and those of our loved ones. 

So for now I’ll wait for my results and consider these questions with my wife. Until then, I’ll be satisfied that “knowing” is in my future, and for me, knowing is half the battle. 

Losing My Mother, Previving For My Children

Thank you to Grey Genetics and Patient Stories for having me on to discuss my journey with BRCA and surgery, but more importantly, for allowing me to discuss my children, who were/are a big part of all the decisions I made along the way.

Please click the image below to hear this podcast.

Show notes from Grey Genetics

At just 13, Heather lost her mother to breast cancer. Fifteen years later, a mother herself, Heather had genetic testing done and learned that she carried a mutation in a BRCA gene. Heather shares her experience as a previvor–from genetic counseling to finding the right doctors to her continued involvement in the BRCA community and the many changes she’s witnessed since she was tested in 2005.

Interview Reference Points: 

Heather learns that she carries a BRCA1 mutation @ 1:20

Making major medical decisions and finding the right doctors @ 7:54

Heather’s children’s books @ 19:59

Heather remembers her mother @ 22:19

Heather’s surveillance today and memories of scanxiety @ 27:24

The Breast Advocate app @ 29:14

Life after an oophorectomy @ 31:30 

Heather’s children’s and their BRCA risks @ 36:07

BRCA resources: then and now and the shift toward shared decision making @ 41:00

Heather’s advice to individuals considering genetic testing @ 43:35

Heather’s advice to individuals looking for the right doctors @ 45:08

My BRCA Story (Heather’s blog)

Heather on Twitter: @expattravelmom

Heather on Facebook

Beyond The Pink Moon Facebook Group

The Breast Advocate app

Breast Reconstruction Resources:

Terri Coutee on Twitter: @6state

The Diep C Foundation

The Diep C Journey Facebook Group

Heather’s books on Amazon:

Why is Mommy Having Surgery? She Looks OK to Me: For families with BRCA risk and undergoing prophylactic surgery and implant reconstruction

This Much I Know

Long Term Surveillance...Yes or No

This past week, I was fortunate enough to be asked to sit down for an interview and discuss BRCA as an expat.  One of the questions I was asked focused on the choices out there for women who find out they are BRCA+.  The one I always discuss, is the preventive prophylactic mastectomy, because, well, I had one and that was the topic everyone was curious about!  I didn't focus as much on the 10 years I spent doing surveillance due to having babies and being an expat.  But I feel that needs just as much discussion these days, because there are a lot of women out there who want nothing to do with surgery...just yet.

I look back, and I think about how crazy it is that I went through all this testing and getting my BRCA+ results before the Angelina Jolie Effect.  I had nothing to read online, no one to guide me and certainly no one to see photos of who had had a mastectomy and direct to implant surgery.  What I did have was a great team of doctors and a genetic counselor at Huntsman Cancer Institute in Utah, who were able to talk to me about my options at the time.  

Because I had just had a baby when I got my results, and I fell pregnant again, it was recommended to delay any surgeries for a while, and because I was breast feeding, even my mammograms and MRIs would be delayed.  That was the hardest part for me.  I knew for sure that I was BRCA+, but I still couldn't do anything about it.  I honestly would have had the surgery that day if I could have.  I was on self breast exam surveillance mode, and as soon as I could, I'd begin alternating MRIs and mammograms every six months.

Photo from Pixaby

I finally had my first mammogram in 2007, 2 years after learning I was BRCA+.  That was a long time to keep wondering, will I get cancer before I try to prevent it?  I was done breastfeeding my second child and I hadn't yet fallen pregnant with my third.  I held my breath before, during and after as I waited for results.  Luckily, it was negative.  After my third child was born and I was done breastfeeding, I had my first MRI, in 2009.  I hated every minute of it, and wished more than anything that I would never have to have another one again.  That began my surveillance, on a regular six month cycle, for the next six years.  Why did it take me six more years to finally have surgery?  Because we decided to pick up the family and move to the United Arab Emirates for a teaching position in 2010.

So, there we were, plopping down in the middle of the desert, and the first task I had was to find a new medical team, let alone, how to get a mammogram or MRI under my new, foreign insurance.  It took A LOT of talking, A LOT of doctors offices, and A LOT of panic.  I was an anomaly.  Doctors in the Middle East didn't have much experience with BRCA in 2010.  They honestly didn't know what to do with me.  

Thankfully, persistence paid off, as I found Tawam Hospital in the Emirate of Al Ain, a partner of Johns Hopkins.  Finally, people who knew what I needed.  They set me up on my six month schedule of MRIs and mammograms, and actually told me NOT to have reconstruction surgery in the UAE, as they just weren't proficient in it yet.  I couldn't go back to the States for it, due to insurance, so surveillance it was.  I continued my six month routine, holding my breath before, during and after every scan, developing scanxiety, and just worrying more and more that I was playing with fire.  Would I develop cancer before I could actually do something about it?  It wasn't a way to live.

I felt like a clock was ticking as entered my 30s.  My mother and grandmother were diagnosed by 40.  I was getting closer and closer to that age with each passing year and each passing scan.  From 2010-2014, I lived in the UAE and had no choices for preventive surgery.  But, in 2014, we moved once again, to Singapore.  I found a doctor who referred me to my first MRI and mammogram in Singapore.  Unfortunately, it was my first abnormal scan, they found a cyst.  All that went through my mind was how I waited too long and I shouldn't have done surveillance for so long.  I should have been more proactive.  As I discussed the results of the scan with the doctor, her response was to do a lumpectomy or watch it for six months to see what happens.  WHAT?  I'm BRCA+ and you want to "sit on it"!  I was out of there and began a furious search for an expat doctor.

It was here that I met a phenomenal expat doctor who trained in genetics and oncology at UCLA.  We discussed my recent scan and my history, and he was shocked that I had lasted this long with surveillance.  He was putting wheels in motion after our first meeting.  Luckily, my husband's new insurance covered me in the States, and I could pick the doctor of my dreams and have the surgery I had been waiting for after 10 years.  In 2015, my six month scans were over, and I had my preventive prophylactic mastectomy.

Surveillance isn't for everyone.  As I mentioned earlier, I wished I'd had my surgery right away.  Those 10 years were awful for me.  I hated wondering and not knowing.  I hated taking that risk of waiting.  It's an internal conversation you need to have with yourself, but also with your genetic counselor and doctor.  Do what's right for your situation.  If you have questions and are wondering about how to navigate all this information, please download The Breast Advocate app.

Fat Grafting or No...One of the Most Asked Questions of Me

I had an amazing experience with my surgery, from beginning to end.  I'm one of the ones who truly had a one and done experience.  I chose a phenomenal team at PRMA in San Antonio, using Dr. Chrysopoulo as my surgeon.  Dr. C, as we all affectionately call him, is a microsurgeon and even more importantly, a board certified plastic surgeon skilled in breast reconstruction.  I cannot emphasize enough how important it is to do your research before you settle on a surgeon or surgical team.  You have a choice. You have the right.  You need to choose someone who knows what he/she is doing.  Someone who can connect you to previous patients, someone who can show before and after photos, and most importantly, someone who will listen to YOU.

That being said, I often get asked whether or not I had any fat grafting done after my "one and done" surgery.  The answer is, no.  For me, I feel like my results really couldn't be any better.  Could I be fuller?  Maybe.  Is there animation I wish would be covered?  Slightly.  But is the process worth it?  I don't feel it is, for ME.  Firstly, let me explain what fat grafting is.

File:Breasts.svg - Wikimedia Commons

Fat grafting basically involves taking fat from one part of the body and putting it in another.  In this case, it is most often taken from the stomach or thighs and placed into the breasts via liposuction.  Again, DO YOUR RESEARCH.  You need to make sure the place you're going to does this often, has correct procedures and know how to handle the fat cells properly.  But that's it.  In and out.

So why don't I want to do it?  I don't want to go through any more procedures, I really don't.  But that, on top of the fact that there's no guarantee that the first procedure will stick, added to me thinking it just wasn't worth it.  There's actually a chance that 30-50% of the fat in the first transfer will be reabsorbed by the body.  30-50%!  That's too high for me to think it's worth it.  I'm reading Facebook posts talking about this very thing, weekly.  Women going in for fat grafting, loving the immediate results, but then having reabsorption and having to choose whether to go through another procedure or just leave it alone and be happy with what they have.

So, for those of you who write in and ask if I ever did fat grafting, or why I didn't, there you go.  It was a personal decision and I'm happy with it.  For me, my journey was always about removing my ticking time bombs, not about perfection.  But, I'm pretty damn close, and I'm happy with that.

For answers to questions you might have, check out The Breast Advocate App.

Surgically Induced Menopause...The Truth

Let's be real for a moment.  Honest.  Brutally honest.  Let's talk about menopause.  Not just menopause, but surgically induced menopause.  It's no joke.  I don't write this to scare anyone, I write it to tell you MY journey and things I'VE learned.  May you be blessed enough to have none of these symptoms or only one or two.

Two and a half years ago, I had my bilateral salpingo oophorectomy...that's fancy talk for taking out my ovaries and tubes.  I did it only six months after having my bilateral prophylactic mastectomy with reconstruction.  I figured I'd just get it all done and put it all behind me.  My only goals were 1) to decrease my chances of developing breast or ovarian cancer and 2) doing it before I turned 40, as that's when my mom was diagnosed.

I've talked in previous posts about how well my mastectomy went, how I felt I was better prepared for it, and how calm I was...eerily calm, about the whole thing.  I wasn't attached to my breasts in any way, and really, my surgeon did such an amazing job that I don't miss a single thing about my old breasts.  Now, I will say, I had already had my children and got to breast feed.  So perhaps I'd feel differently if that wasn't the case.  But taking all that into account, I'm extremely happy with the results.

But then there's the oophorectomy.  It scared the crap out of me.  In one of my initial consults, I learned all about the risks of the surgery and all the side effects of losing my ovaries.  To hear words like memory loss, heart disease, bone density, psychological well-being and sexual disfunction...I'm amazed I went through with it.  But we need to keep one thing in mind...we're trying to avoid getting cancer, right?  So the only choice I had was to go through with it.  Now, let's fast forward to today, 2018, two and a half years later.

Ladies, I'm not going to lie.  It pretty much sucks.  Is it doable?  Of course.  Are there drawbacks, absolutely.  Some days my glass is half full and sometimes it's half empty.  But here we are, it is what it is, so I'm just going to let you know how it's all panning out.

Hair

My once thick beautiful hair is now thinning.  I take biotin, collagen, buy shampoos with lavender...anything people suggest, I try.  But alas, it's thinning and I hate it.  The positive side?  I don't have to shave as often anymore because hair, anywhere, barely grows anymore, and the ones that do are soft.  That's a plus, right?  Some say to get your testosterone tested as it can cause male pattern baldness type issues.  My testosterone is AOK, so what's next?

Skin

Awww, say goodbye to  beautiful, supple skin.  The elasticity just isn't the same anymore.  I now look down and see my mom.  Not that mom looked bad!  But come on, when I was little, I thought my mom was old, when really she was only 39...lol.  In addition to the supplements above, I use wonderful lotions...but really, it's just my reality now.  It's a bit more wrinkly and a bit more loose.

HRT

So, I tried to avoid HRT, but the reality is, I couldn't.  My hot flashes were non-stop...8-10 massive whammies during the day alone, ones that caused me to mop myself down with tissues.   So, I started taking progesterone and estrogen.  Ahhhh, the joys of estrogen gel.  Every night, I get my measuring stick, squeeze out my gel, and rub it onto my arm.  I then wait for it to dry while trying to avoid getting it on anything.  It's so sexy.  The hot flashes went down to about 4-6 a day and were more manageable.

Sleep

Once I had my oophorectomy, it's like I woke up to life, and can't go back to sleep.  Sadly, I've tried all the herbal remedies, compounds and HRT, but nothing can get me to sleep...and stay asleep.  So, I take half an over the counter sleeping pill a night which keeps me in a beautiful slumber.  Some doctors recommend taking some anti-depressants for hot flashes which also helps with insomnia, but I'm not sure I'm ready for that.

Weight Gain

Oh, the weight.  It kept coming and coming and coming.  I was at my wit's end!  I hadn't changed my eating habits, I went on HRT to be more hormonally balanced, and yet it was as if my body said, "hey, it is what it is...accept it!."  Ummmm, no.  Wasn't going to.  So, my doctor put me on the keto way of eating and guess what...all the weight melted off.  I haven't stopped, going on over a year now.  It also dramatically reduced my hot flashes to about 2-3 a day and barely noticeable!  I'm guessing the lack of any and all sugar did that, but I'll let a medial genius disprove me.

Memory

I scoffed at the idea that a simple surgery, ok, not simple, but you know what I mean, could change my memory capability.  But wow.  I notice a huge difference as the years go on.  I'm not as mentally sharp.  Sometimes it takes me a bit longer to realize what I'm trying to do in the moment, what I came into the room to do, think of something I was supposed to tell someone...just these blips here and there that are happening more often.  Sometimes I just laugh at myself and say, oops, another oopho brain moment.

Sex

Ok, SOOOOOO personal, but so real.  So, here it goes.  You'll be dry.  That changes everything.  It instills fears.  Fear of pain, fear of lack of pleasure, fear of everything being different.  You can try estrogen insertion pills to help, different gels, whatever will work for you...BUT KEEP AT IT.  Keep trying to find a solution and don't let the fear take over.

Babies

So, I knew I was done having children.  I really did.  Really.  Well, I tell myself that anyway.  But oh my goodness, now that I'm 2.5 years out, something strange is happening to me.  I have baby fever.  I see them and I want them.  I imagine having one.  And then, it sets in.  I can never have a baby that is genetically mine.  And it makes me sad.  Should I have harvested eggs?  Too late now.  I wasn't even thinking about it because I was done having kids.  Honestly, I was done.  I think.

That's it.  That's the joys of having surgically induced menopause.  The gift bestowed upon you for completing a life saving surgery.  Am I thankful for having the opportunity I had to chance my life's course?  Absolutely.  But am I human, experiencing grief, anger and change?  Absolutely.

Three Year Checkup After Mastectomy and Reconstruction

On Saturday, March 17th, the day of Irish luck, I had my three year post mastectomy and reconstruction scans.  While my surgery wasn't until the month of June of 2015, I felt like I needed to get my check up slightly early due to some pain and burning sensations I've been having in my chest.  So, I was lined up for the fully gamut of tests...MRI, mammogram and ultrasound.  Enter stress and anxiety.

MRI

Let's flashback to 2013, which was my last MRI I thought I'd ever have, ever.  It was the beginning of the end when it comes to anxiety and claustrophobia.  I'd had MRI's before, as part of my surveillance, but something about this one was different.  I have no idea why I began to panic inside the tunnels.  Not sure if it was the constant clanking and banging noises, if it was because I was face down and couldn't see for so long, or if I was just plain scared, but I panicked during that one, unable to continue, stopping the scan early, and that was the end of them, or so I thought.  

I'm now 3 years post mastectomy and reconstruction, so it is needed to check on residual tissue as well as the implant integrity.  This time, I took a Xanax 30 minutes before entering the tunnel.  I was positioned and ready in the tunnel, where they then inserted the port for the dye, since I have a high fear of needles.  Well, apparently my vein jumped and she missed, causing a lot of pain, and a mess.  She then tried for my arm, not before saying "you have impossible veins."  Thanks lady.  Way to soothe me.  Anyway, port in, I'm in, we're ready.  I did my breathing exercises while in there, in through the nose, out through the mouth, over and over and over.  I'd feel the panic creep up, and go back to focusing on my breathing.  "Now we're injecting the dye so the next 5-10 min are really important that you don't move."  That did it, I felt trapped.  I had had enough of the banging, clanking and noises, enough of the sensation of dye being released, and my breast bone was killing me.  I was wiggling my toes, I was playing with the panic button in my hand, and I was about to explode.  Just as I grabbed the button to press and end it all, the 45 minute session was done.  

I don't think I'll ever get used to an MRI machine.

 

Mammogram

After the MRI, they walked me to the mammogram room, where I was informed that instead of the normal four images, I would be having eight.  Apparently, once you have implants, you have an additional four which are called 'pinching' images.  This is part of the American Cancer Society's recommended procedure.  Several views must be taken to see both the implant and the tissue.  So, the first four are what you're used to, regular squeeze, two angles on each breast.  

The pinch is different.  They literally squeeze the tissue, pushing the implant back and getting as much tissue forward as possible for the scan, and then take an image of just the tissue.  Imaging can only see 75% of your tissue with an implant in place, so 25% is nearly impossible to see...therefore the pinch.  I will say, the regular image hurt more than the pinching, and overall, I felt more discomfort with these images with implants than without.  

http://www.imaginis.com/mammography/
breast-implant-imaging

http://www.imaginis.com/mammography/
breast-implant-imaging

Ultrasound

After the mammogram, it was time for the ultrasound.  My last ultrasound is the entire reason I finally stopped putting off surgery and ran straight to the doctor for a surgical appointment.  Remember, I was diagnosed with BRCA1 in 2005, but due to having children and moving Internationally, there was never a time or a doctor where I was, where the reconstruction part of the surgery could happen.  In 2015, I went in for my routine mammogram and ultrasound, but this time, they made me wait in the waiting room...for a long time.  They finally said they wanted me to see a breast specialist that day as they found a cyst of some sort.  

Now, where I am, preventive mastectomy is not practiced, it's radical.  So, they opt for a lumpectomy and surveillance.  Yeah, not for me, no more, not happening...off to surgery I go.  I went back to the States for surgery.  I was never going to feel that way again...except, well, at March 17th's appointment.  There I was again, same exact room, lying on the bed, praying and hoping all would be fine.  I don't think anyone can ever truly explain the fears and worry we have going through this for most of our lives.  I started mammograms and ultrasounds in 2005....holding my breath every six months, wondering when I'd hear the C word.  I don't think it ever goes away, as it's now 2018, and I'm just as panicked, even with surgery having happened.

The right breast scan took a long time, and she hovered over one area for a very long time, taking still shots and showing the thermal spots.  She hopped over to the left breast, was done VERY quickly, but went back to the right breast.  At this moment, I really started to worry.  She was taking measurements, taking more still photos and staying in the same spot.  Now my pessimistic side appeared.  I just lay there calmly, thinking she'd say something to me, and after last time, surely they would.  But nothing.  When I asked, she simply said the doctor needs to read it.  

It's now two days later, the 19th, and I'm still waiting for results.  All I can think of is that if it was serious, they wouldn't make me wait this long, right?  

I'll be back with an update as soon as I hear, but for now, send all the good juju vibes you can.

Results are in!

I just got the scans back and they are normal.  There are no sinister or suspicious findings.  3 small right benign breast nodules on ultrasound - all normal.  MRI is normal.