gene mutation

Preventive Mastectomy and BRCA FAQs

Since my preventive double mastectomy is only a few days away, I wanted to address some of the questions I've been asked most often about the surgery and the BRCA gene mutation. 

How did you find out you had the mutation, and what made you want to get tested?

I have a strong history of breast cancer in my family, so I always figured I was at a high risk. I thought about getting tested for the BRCA mutation for a while but kept putting it off. After my first cousin tested positive for it and I talked it over with my OBGYN and my primary care doctor, I decided to get tested. You can read more about when I initially found out in this blog post.

What is your risk? How likely are you to develop cancer?

My risk of getting breast cancer is around 75%. I also have an increased risk for ovarian cancer (around 15%), melanoma (around 5%) and pancreatic cancer (around 5%). This is specific for my variation of the BRCA2 mutation.

How did you initially react to the news? Did you have trouble trusting God with it?

I was really sad, obviously, when I first found out. I knew the implications and knew that I would have to make some tough choices. Honestly I never struggled to trust God with it. In this big, hard thing I have turned to Him constantly as my source of peace and wisdom. That's not to say it hasn't been difficult or I haven't felt angry or sad or scared, because I definitely have. But He has been a constant source of peace, and I didn't know how people walk through things like this without Him. This diagnosis has never felt totally devastating or like a death sentence.

What kind of doctors have you seen?

My first appointment was with my OBGYN since my risks are highest in the areas that kind of doctor deals with. She gave me names of a breast specialist/oncologist, a genetic counselor and genetic doctor, and a plastic surgeon. Thankfully those names were also recommended to me by multiple other friends in the medical field. I also have to see a dermatologist once a year to monitor my skin, and plan to see oncologist that will help me monitor my pancreas. I'd be happy to give you the names of the doctors I see if you are local to this area and need a recommendation!

When will you have your reconstruction? 

Thankfully the first phase of reconstruction will happen in same surgery as my double mastectomy. I'm having DIEP Flap reconstruction at this initial surgery, which basically means they will use fat and tissue from my stomach to build new breasts. Because I don't have a ton of stomach fat (first time someone has told me that haha!) I will do a second phase of reconstruction in a few months where we will probably put in a small implant. You can read more about my decision to have a mastectomy and more about the DIEP flap procedure in this post.

Does having a mastectomy mean you won't get cancer?

No, it does not guarantee I won't get breast cancer because it would be impossible to get every last cell of breast tissue removed. But it takes my risk from 75% down to around 1%. That's less than a normal woman's risk. And I also will have the other cancer risks to contend with, and will likely get my ovaries removed in my 40s because ovarian cancer is very hard to detect early. Removing them is recommended for people with genetic mutation risks, but it will also put me into menopause so I'm going to put this off as long as I and my doctors feel comfortable with it. I will have to get yearly ovarian ultrasounds and blood work done to try to monitor any changes.

Is it similar to having a boob job?

I have to admit this is the only question or suggestion that has frustrated or hurt me. But I have to realize it’s coming from a place of just not knowing, not trying to dismiss or belittle, which is why I feel it’s so important for me to share my story and hopefully educate people. To be clear, I have zero problems with and fully support people getting "boob jobs", and while I will be rocking fake breasts from here on out, it's not something I would have personally elected to do if it weren't for this cancer risk. They will be removing all of the tissue from my breasts - fat, duct work, everything. Along with that I will no longer have feeling in my breasts. There's around a 10 chance I will lose my nipples because they have to scrape out all the tissue behind them. This is not a surgery I'm excited about having. Maybe one day I'll be able to appreciate that my boobs don't sag, but I'd definitely have preferred to keep what I have!

What are you most nervous about?

I've never had any type of surgery, so I'm nervous about going under anesthesia. I'm nervous about pain after recovery and the side effects of pain meds. I'm nervous the flap procedure will fail and I'll have to go back into surgery with a plan B for reconstruction. Mostly I'm just nervous about the unknown. It's hard to fathom that in a couple of days my body will permanently be very different. I'm nervous about what recovery will be like as far as what I can and can't do. I'm nervous about not being to help and do things with my kids. I'm nervous I'll be sad when I see my body. I can't imagine what it will be like to not have feeling in my boobs anymore. I'm nervous about my husband having to sit in the waiting room while I am in surgery, and then having to take care of me. And while I’m not really nervous or in fear that I’ll die in surgery, I know it’s still a possibility that I could just not wake up. That’s a tough pill to swallow. Having to talk over my living will with Jonathan has been hard. Thinking “I should probably update my kids baby books just in case I die” is a very strange reality I’m in right now. Knowing this isn’t a surgery I have to have, I’m nervous about something going wrong and I could have avoided it. It's all just very weird. That's the only way I know how to describe it. But I still feel 100% confident and at peace with my decision.

How is your husband handling all of it?

Thank God for my sweet husband. Jonathan has been super supportive through every step of it. From sitting next to me as I spit in the container that would be sent off to test, to waiting by the phone with me to get my results. He's been at every appointment, given me his input when I asked for it, encouraged me on every fear I've voiced. He is very supportive and is thankful, just like I am, that I have the option to stop cancer before it starts. That my chances of being here for my boys will greatly increase. That we won't have to deal with the trauma of a breast cancer diagnosis. He has been amazing through it all, and I have zero doubts that he will be amazing through my recovery. I'm a little nervous about him washing and fixing my hair, however ;) 

Whose boobs did you go with for your new ones?

This is a super common question that makes me laugh. For this first stage of surgery, there's not really any picking out. I will get to make decisions about size and type of implant before my next surgery in the fall. But for now I will just have some sort of new "breast". I've seen them lovingly referred to as "foobs", which I really like ;) For those who don't do some type of flap procedure like I'm doing, you are basically left with just skin on top of an implant, so it doesn't give you a lot to work with like an augmentation, lift, or reduction would do. 

What are your plans for your kids post surgery?

We are so thankful to have a ton of people to help us! My parents will be staying at my house with the boys while I'm in the hospital (3 nights). Then the boys will go to my sister and brother-in-law's house for a few nights, then I have a friend taking them for a day, then help from my mom again, and then Jonathan's parents will take them for a while since they are both retired. Evan starts school about 2 weeks after my surgery so he will come home the weekend before that. And we will just play it by ear with the other two boys depending on how I'm feeling. They'll stay at Jonathan's parents on weekdays while he is at work, and then they will come home on the weekends.  We will do that until I am confident I'll be able to take care of Gibson - the main concern is with lifting him in and out of bed, the car seat, high chair, etc. And toddlers just need to be picked up and held a lot. So until I'm able to do that, I'll have to have help. I plan to fully document and share my recovery so hopefully I'll have some good advice and feedback about the recovery timeline after that. I know that was my main concern going into all of this! 

If you have any other questions feel free to leave them in the comments, or shoot me an email if you'd prefer. Thank you to every single one of you who have encouraged me and prayed for me through all of this. It means more than I could ever say! 

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I'm Having a Double Mastectomy // BRCA Journey Part 2

I don't know if "rollercoaster" is a sufficient word to describe what the last few months have been like since I first found out about and shared my BRCA2 Positive diagnosis. I get asked how I'm doing, and truthfully I am fine. I really am. But sometimes I'm also scared and anxious. Sometimes I'm angry that I have to deal with this in the first place. But mostly I have peace about it. Most of the time I'm hopeful.

Long before I ever got tested, I had already made up my mind that if I were to ever find out I had the gene mutation, I would have a double mastectomy. "Cut 'em off! Take them out!" I know it's a huge decision, and I don't take it lightly at all. But coming to that decision beforehand has taken some of the weight off. On the other hand, being forced to be in a place where you have to actually make that decision really freaking sucks. 

Once the news had settled into my mind, I began researching doctors and hospitals. When I shared that first post a few months ago, the outpouring of encouragement was amazing. I also received an outpouring of very helpful advice and recommendations. Friends were connecting me to other women who had gone through the same thing. I was connected to women who work in breast surgery at our local hospital - yes, multiple friends who I didn't realize did that for a living! Between those conversations, conversations with my OBGYN, and lots of googling, I was able to land on two doctors I knew I wanted to meet with.

The anxiety I've experienced leading up to each doctor's appointment has been hard. For the first month or so I was dreaming of surgery almost every night - nightmares where I was under anesthesia but was still aware of everything happening. I had tons of browser windows open on my laptop and phone, notes written everywhere of questions to ask and things to remember. Each doctor's appointment made the whole surgery decision a little more real. I first met with a breast specialist, and I absolutely loved her. She explained every option I have and didn't make me feel scared or pressured. But she also made me feel confident that surgery was the right decision. 

A month later I met with the plastic surgeon. I was a total mess before this appointment. I felt like this appointment was going to be the final straw in "yes, I'm doing this." I could barely eat that morning and was so shaky. But I made Jonathan take my picture as I sat waiting in the exam room, so that I could remember that even though I was so scared, I was also brave and at peace.

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I felt so comfortable with the doctor. He thoroughly explained my reconstruction options and answered all of my millions of questions. I'll just go ahead and say, however, that standing in front of a full length mirror with my "I've had three children and just finished breastfeeding for a year" boobs while a doctor measured and sharpied on my body was not a highlight of my life. But I did at least know what I was getting into and fully understood my options. I left that appointment with a lot of peace, because I knew the ball was officially rolling. We talked dates and everything. I needed a date set so that I could stop being in the in-between, unknown, and waiting portion of this ordeal. I couldn't deal with any more "maybes". The difference between how I felt going in to that appointment and coming out of it is huge. Jesus. That's all I can say. I even sent out an instastory to you fabulous women asking for prayer, and y'all showed up. BIG TIME. I cannot thank you enough for that.

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After that appointment came all the steps and conversations I needed to have in order to get to the actual surgery, which I still didn't have a solid date for, but I at least had a rough time frame. The following week I was scheduled to go in for a CT Scan at the hospital where I'll be having surgery. The type of reconstruction I'm having is called DIEP Flap. Basically they are going to take a "flap" of tissue from my abdomen and relocate it to my chest to build my new boobs out of it (you can click here for a thorough explanation). Science is CRAY, y'all. So this CT scan was looking at the blood flow to the tissue in my abdomen to make sure it was good, and to see where the blood vessels and arteries are. I've never had a CT scan done before, so I for sure felt like I was walking into a Grey's Anatomy episode when I saw this crazy contraption.

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And once again I wanted to document myself being partly freaked out, but doing it anyway! "Going scared." And I had to show off this sexy hospital gown for y'all too, of course.

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The lead up to the scan took forever it felt like, but the scan itself was easy and super quick! And that's the last official appointment I've had up until this point. I've been able to ask questions to my nurses as needed. I've gotten connected with more women who have had this same surgery for the same reasons. I even got to have a conversation with a woman who had the exact procedure I'm having with the same plastic surgeon at the same hospital, so that was incredible. She answered every single question I could think of and was so encouraging to me. And that right there is the exact reason I want to share every part of this process with you. I don't wish this ordeal on anyone, but if you are walking through it I want you to see what it's like. I want to answer your questions and be your support and encouragement. You are not alone even though it might feel like it sometimes.

A few weeks after my scan, and with one simple phone call, I had a surgery date set. July 25th. July 25th at 7 in the morning I will be going into surgery. At this surgery they will perform the double mastectomy - removing all of my current breast tissue. They will also begin my reconstruction - the DIEP flap procedure I mentioned above. I'm saying "begin my reconstruction" because the tissue (aka fat) on my stomach is not enough to fully reconstruct my boobs on its own (the only time in life I've been told I don't have enough stomach fat!). So a few months after this surgery, I will have a second surgery. During that, they'll do scar revisions, adjust anything that needs to be adjusted, and add some volume with fat grafting.

As I've told my friends and people who have asked for updates, once again everyone wants to know how I'm doing. And I'm good! I hope that I'm not just in total denial, but I honestly feel so much better now that everything is finalized. I have pre-op appointments with both surgeons during the beginning of July. I'm sure I'll have some anxiety and fears around that time and the days leading up to surgery. I'm nervous about what parenting post-surgery looks like. Thank God for amazing family and friends. I have other fears surrounding surgery itself, of course. I've never had any type of operation, and this surgery is a big one that will last in the ballpark of 5 hours. I'm choosing to trust in my decisions and trust in Jesus who has gotten me to this place. He is good, and His plans are good. I am standing on that truth and fully believe that's why I am experiencing peace in the midst of this crazy storm. 

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There are more things I'll have to address due to this gene mutation, and I'm working through those things as well. Skin checks, eye checks, ovary scans, blood work. I'm trying not to let it feel overwhelming even though it easily could be. One step at a time, right? That's how we get through hard things. If you ever have any questions, I am more than happy to answer them. You can comment on this post or email me at coldcoffeehotmess@gmail.com. Thank you for walking alongside me through this scary time. It means more to me than I could ever fully express!

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This is my sister Haley and I at this year's "Race for the Cure". She wrote my name on her back as one of the people she was running for. Talk about a humbling moment. But also a moment that lit a fire under me. I am going to continue to support and pray for a cure so that not one more person has to face the potential of this terrible disease. 

My BRCA Journey // Part 1

For as long as I can remember I’ve joked about the fact that I’ll probably get breast cancer some day. I have quite the family history of it. My grandmother on my mom’s side, grandmother on my dad’s side, aunt on my dad’s side. It was kind of daunting if I sat and thought about it. But it’s not something I fixated on for too long. I figured there was nothing I could do about it except be mindful with early screenings.

And then one day I learned about something called BRCA gene mutation.You may have heard about it. Angelina Jolie brought a lot of light to it when she found out she had it and decided to get a prophylactic (or preventive) double mastectomy. A while after that news became public and I saw more about it in in news articles throughout the years I began to wonder about my chances of having that same heredity gene. I brought it up to my OBGYN and we talked pros and cons of finding out, but I put off testing for it. My sister decided to get tested, and it came back negative. That pulled a big weight off of my shoulders, because I just assumed if she was negative I probably was too. I decided I wouldn’t bother shelling out the cash to test myself. But then a year and a half ago my cousin Nancy tested positive for it. And there was the nagging in the back of my mind again. But I was pregnant with Gibson so I put off thinking about it some more. I started seeing a new OBGYN after Gibson was born, and at my first appointment with her she mentioned getting tested because of my history, including my cousin’s positive test. A month or two later I had an appointment for a yearly exam and blood work with my primary care doctor, and we decided to order the test along with the other general tests we were already ordering. Insurance coverage for it ended up being super expensive, but my sister had told me about an online resource called Color Genomics. I looked into it and the cost was only $100, so I ordered my kit. There was a small amount of fear and anxiety as I spit into the little vial they sent me and mailed my DNA off to their lab. Now I just had to wait 4 weeks. But my sister’s test was negative, right? So I just assumed mine would be too.

Then on the night of February 5th I got an email that my results were ready. I had to schedule a call with a genetic counselor in order to receive and review them. I didn’t know if this was standard for all results, or if this meant I was positive. I was feeling shaky and a little nauseous as I got closer to my call time the next day. I hadn’t told anyone except for Jonathan that my results were in. I just didn’t know what they would be and how I would feel. The genetic counselor was so kind on the phone and instructed me how to pull everything up on my computer. And then she released my results and said the words I was dreading. “You tested positive for the BRCA2 gene mutation.” Jonathan was next to me (thank God), and I just looked over at him and nodded. Then she went on to explain what all of that meant, what the statistics were, what the options were for moving forward, etc. etc. It was so much information (good information, but a lot), and at some point I remember thinking “I need you to quit talking so I can hang up the phone and cry.” The words “this means you have a 75% chance of getting breast cancer” are still ringing loudly in my ears.

In case you’re reading this and have never heard of this whole BRCA thing, there are two different gene mutations that put you at a higher risk of both breast cancer and ovarian cancer. The risk is slightly lower with BRCA2 than with BRCA1 (for women), but it’s still kind of staggering. My mutation is BRCA2 which puts me somewhere around the 75% risk of getting breast cancer, around a 15% chance of getting ovarian cancer, as well as an increased risk for pancreatic cancer and melanoma. Awesome. I know some people don’t agree with genetic testing. Why stress yourself out with knowing? And in some instances I agree - for diseases that have no prevention and no cure. But breast (and ovarian) cancer is different. I can do my damn best to prevent it, and it’s treatable, especially if it’s caught early. So even though it’s been a lot to process, I’m so glad I found out.

The day I found out was filled mostly with information. Reading all the statistics, sharing the news with my family and my best friends, sending my results to my doctors, scheduling appointments with them, and just taking it all in. I cried for maybe a minute after that phone call and then I was really feeling ok. A little shocked and overwhelmed, but not devastated. But by the end of the day I could feel the emotions coming back up. As I got in the shower that night I remember looking down at my chest and starting to cry again.

The next morning, when I was by myself for the first time, is when it all started to hit me. I spent a lot of that day in tears. It’s hard to process the whole thing. It’s not like I had found out I actually had breast cancer. But there’s a 75% chance I will get it. That’s a lot. Would I just have to spend year after year hoping to catch the cancer early enough to treat it? I was also reading all kinds of information about preventive surgeries. Did I want to get a double mastectomy? And then reconstructive surgery? I mean, it’s always been nice to think about having “better” boobs. But I really am fine with what I have, so it’s never a decision I would have made otherwise. What kind of reconstruction would I do? What’s the insurance coverage like? I may have to remove my nipples too, do I want to keep those? Why TF am I even having to think about this?!? And what about getting my ovaries and fallopian tubes taken out? I’m not really using them anymore since we are done having kids, but again, being in a place where I have to make decisions like this just didn’t (doesn’t) feel fair. These parts of my body that make me a woman may very well try to kill me. It’s a tough pill to swallow. I fluctuate between fear of the unknown, fear of possible surgeries, anxiety with being in this weird state of in between, fear of passing this on to my boys (there’s a 50% chance each of them will have the same mutation), and sadness and anger that I’m having to deal with any of this in the first place. I’ve done so much work to live a healthy life, being conscious of the types of foods I eat and the products I use. But there’s this thing written into my DNA that may just give me cancer anyway. It can all feel totally maddening if I let it.

My God, what would I do in this situation if it weren’t for Jesus and the hope I have in Him? God isn’t surprised by any of this news. He knows I have this stupid mutation. He’s always known. He’s prepared the way for me. He gave us Gibson when we weren’t even sure we wanted more kids. He gave me a smooth pregnancy, the most ideal delivery, and a year of nursing, which is the whole point of boobs anyway, right? And we knew for sure we were done having kids before I took this test, which takes so much of the pressure off as I face some possible tough decisions in the near future. He’s going to do great things through this part of my life. He’s already doing it. He works all things together for good, even mutated things! I have hope that He is the author of my life and He already knows all the parts of my story. Am I still sad and scared? Yes, sometimes. But I have hope, and that makes all the difference.

I am planning to keep you in the loop throughout this whole journey, whichever way it goes and whatever decisions I make. I spent a lot of time googling “BRCA blog posts” in the days after I found out just to try and find stories like mine, to find real women, especially mamas of young kids like me, that have gone through this thing. I wanted to see how they were dealing with it and what decisions they made. And now more than ever I am really thankful for this platform I’ve been able to have, however small it is, to share my journey so I can hopefully encourage the next woman who gets this diagnosis. I am open to any questions you might have, so feel free to leave them in the comments or email me at coldcoffeehotmess@gmail.com.

Read part 2 here.

Hereditary breast cancers account for only 5-10% of all breast cancers. BRCA 1 & 2 mutations are rare in the general public, so unless you have a family history of breast or ovarian cancers, there shouldn't be a need for you to be tested, but you should discuss your family history with your doctor if you have any concerns. You can read more about BRCA gene mutation here.

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