Genetic Counseling Before And After Testing

When I think back to the last 8 years, I cannot believe how far I have come. It has been quite a ride and I would not change a thing. My BRCA2 mutation has given me so many things, some good, some bad — none of which I would change.

My mutation gave me an 87% chance of developing breast cancer and a 40% chance of developing ovarian cancer. These risks provided me with immeasurable fear, uncertainty, and vulnerability. As a result, I underwent surgeries to reduce my cancer risks, which were then followed by complications and many recoveries. Most importantly, my mutation gave me a wake up call.

Life is short and I always knew that I wanted to live it to the fullest so when I got the news that I was positive for a hereditary mutation, I knew that I was going to do everything in my power to keep myself healthy. I never once second guessed my decision to have risk reducing surgeries. I feel fortunate that I had many tools, as well as professionals, at my disposal.

One of the most important people I dealt with from the moment I found out about the BRCA mutation was my certified genetic counselor. Genetic counselors are health professionals with specialized training and experience in the areas of medical genetics and counseling. Genetic counselors work as members of a healthcare team, providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions.  For more info about genetic counselors, go here!

Genetic counselors wear many hats — all of which are essential. They can be the bearer of good or bad news, and play important roles in decisions you make. First and foremost, they are able to assess your genetic risk to see which genetic tests are appropriate for you. When dealing with general practitioners, many will often order a genetic test for BRCA mutations if they feel it is needed; however, the BRCA mutations are not the only mutations that can put you at a higher risk for cancer. Various organs can be involved for hereditary cancer syndromes. Other cancer concerns aside from breast and ovarian cancer include: colon, pancreatic, prostate, skin, peritoneal, and uterine cancer.

Genetic counselors can provide you with the proper paperwork so that you will have minimal insurance issues. They can also provide you with connections to a social workers and psychologists. Genetic testing can often be a very emotional experience and there is nothing wrong with speaking with someone — in fact I encourage it.

When seeing a genetic counselor, it is a good idea to take family members with you who you think might also be affected by a mutation. They can help map out your family tree and provide documentation that you can share. If you are not able to take a family member with you, a counselor can provide resources and tools to help share the information with family as it is often very difficult to start that type of a conversation.

A family medical history is health information about you and your family. A family medical history includes information about the health and illnesses of your mother, father, siblings, your children, aunts, uncles, cousins, and grandparents. The more information you can provide, the better. If cancer has been in the family, please try and find out the age of onset, along with cause of death. If you notice patterns of medical issues, mention that as well. It can help determine whether there is an increased risk of developing certain conditions.

Aside from a family medical history, here are some other tips that will help. If you can, it’s a great idea to ask relatives if they have ever gone for genetic testing. If you do have the ability to ask, it would be great if they are able to provide a copy of those reports. It is extremely helpful and might even reduce the cost of testing. If a relative cannot join you for the appointment, I would also advise you to bring someone with you to your appointment. That way you have someone who is able to be a second set of ears. If not, you can always record the meeting. It can be overwhelming and sometimes things are forgotten.

Genetic testing is not for everyone however I truly believe that knowledge can be power. Many who undergo genetic testing feel a sense of relief. Knowing whether you are negative or positive can allow you determine a course of action. It can help with a surveillance plan or a prophylactic surgery path. It will also help with screening measures for your family. If you have tested positive for a genetic mutation, there is a 50% chance that each one of your family members may also be at risk.

It is important to remember that genetic testing can save your life if you use the information to be vigilant and take action. I truly believe this with all of my heart. Hearing that something is beyond your control is scary but there are steps that can be taken to decrease your chances of developing cancer. It can give you treatment options that weren’t available to you prior to a positive result. It allows more aggressive surveillance measures such as mammograms, ultrasounds, and colonoscopies to name a few. A positive genetic test is not a death sentence and I am proof of that. Without the knowledge, my story may of have had another ending.

Everyone does what is best for them and there is no right or wrong way to deal with genetic testing but having information at your fingertips is priceless — I am living proof of that.

If you are considering genetic testing or are waiting for results, reach out, talk with someone, find a support group as no one should ever feel alone. There will always be a soft place to fall, regardless of the results if you are positive for a hereditary cancer mutation.

If you have questions about genetic testing and counselling, please check the National Society of Genetic Counselors.

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If you have tested positive for a BRCA mutation or any other hereditary cancer syndromes including Lynch syndrome, please come join the BRCA Sisterhood. They are over 6600 women worldwide and all of us are dealing with similar issues. https://www.facebook.com/groups/brcasisterhood/   Everything is private. Talking with others who “get it” is priceless.

Much love,
Karen

Let’s Talk About Male Breast Cancer, It Does Exist!

male breast cancer

Since pink ribbons flooded the world, everyone has heard of breast cancer; but did you know that men can get breast cancer, too? It’s true and, although male breast cancer is rare, it can be deadly. There aren’t many organizations that focus solely on male breast cancer, but that is starting to change. For men, the stigma of breast cancer is the idea that it’s a “woman’s disease.” When we focus on the pink, we can’t forget that the blue matters, too. Men need to be empowered and informed!

A few famous men who have battled breast cancer:

Peter Kriss

Peter Kriss: That’s right! The drummer of the iconic rock band, KISS, is a breast cancer survivor. He was also the first man to publically admit on TV that he had breast cancer.

Richard Roundtree: Better known as that 70’s ace detective in the movie, Shaft. He was also in Roots, and briefly in Beverly Hills, 90210.

Rod Roddy: You know his voice as he was the announcer on The Price is Right.

Ernie Green: NFL fullback for the Cleveland Browns.

Below is my friend Alan Blassberg, director of the award winning documentary Pink and Blue, Colors of Hereditary Cancer. And yes, he is being felt up by David Grohl of the Foo Fighters and formerly of Nirvana. Alan pushes for men to be included in the breast cancer discussion and is a champion for men’s health rights. Dave Grohl seems to be a fan as well!

davidgrohl

Check out the full article about this documentary in Forbes.

So how does any of this relate to me? My father has the BRCA2 (Breast Cancer and Ovarian Cancer) mutation. He was the one that prompted me to go for my own genetic testing. I inherited my BRCA2 mutation from him. Many people, doctors included, are not aware that men can pass the BRCA genetic mutation down to their children, and they are also unaware that men can and do get breast cancer.

Mutations can be inherited from either parent and may be passed on to both sons and daughters. Each child of a genetic carrier, regardless of sex, has a 50% chance of inheriting the mutated gene from the parent who carries the mutation. As a result, half of the people with BRCA gene mutations are male, who would then pass the mutation on to 50% of their offspring, male or female. (Wikipedia)

It is just as crucial to learn about your paternal side of your family tree. If you only check with your mother’s side of the family, you are missing 50% of the information needed to make informed decisions about your health.

People with whom I’ve shared my story are SHOCKED to learn that I inherited this from my father. Men seem to be forgotten and are often overlooked. I know this firsthand because, until 8 years ago, I had no idea about my father’s side of the family. I didn’t know that his mother passed away of ovarian cancer in her 40’s or that his aunt passed away of breast cancer in her 40’s. It was only when his first cousin was diagnosed with ovarian cancer that I learned cancer was rampant throughout my dad’s side of the family.

When you hear of BRCA mutations, you hear about the increased risk of breast and ovarian cancer and the effects the mutation has on women. However, a mutated BRCA gene also increases the risk of other cancers such as fallopian tube cancer, peritoneal cancer, pancreatic cancer, melanoma, along with other skin cancers, prostate cancer and, of course male breast cancer.

Check out the BRCA fact sheet from cancer.gov.

Male breast cancer occurs in 1 out of every 100 BRCA-related breast cancer cases. In the general public, male breast cancer accounts for only 1 out of 1000 cases. We all know it is important for women to be aware of changes in their breasts and it is just as important for men.

Compiled from BreastCancer.org, possible symptoms of breast cancer include:

• a lump felt in the breast;
• nipple pain;
• an inverted nipple;
• nipple discharge (clear or bloody);
• sores on the nipple and areola (the small ring of color around the center of the nipple); or
• enlarged lymph nodes under the arm.

So ladies, I implore you to talk to the men in your life, especially if you have a family history of any of the cancers mentioned above that are linked with BRCA mutations. Men, take control of your health, ask questions about your family history, be informed. Please start a conversation that can save a life. Knowledge is Power!
Much Love
Karen

Works Cited:

Wikipedia. Wikimedia Foundation. Web. 15 Dec. 2015. .
Senapathy, Kavin. “Rockstar Dave Grohl Examines Filmmaker’s Breasts, Because Men Get Breast Cancer Too.” Forbes. Forbes Magazine, 1 Dec. 2015. Web. 15 Dec. 2015. .
“Breast Cancer Symptoms | Breastcancer.org.” Breastcancer.org. Web. 15 Dec. 2015. .
Cancers related to BRCA: http://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet)

How I Turned My Mastesctomy Into Art

mastectomy tattoo

I have always loved tattoos. Shortly after my 18th birthday, I walked into a tattoo shop filled with courage and a bit of cockiness. After studying the wall of images, I confidently pointed to a small cartoon devil named “hot stuff” and said, “Perfect!”

Many people ask whether or I not have any regrets about my first tattoo, but, honesty, I don’t. 23 years later, I look at it and smile. It’s a part of my history, a personalized scar of sorts.

Over the years, I have added other tattoos, so it’s no surprise to anyone that knows me that I decided to add one more. This one however, is the most meaningful piece of art I have ever added to my skin. It is a beautiful ending to a very difficult 6 years. Choosing to remove my healthy breasts because of my 87% chance of developing breast cancer is a decision I don’t regret for one minute. My BRCA gene mutation has forced me to make decisions that no woman should ever have to make. By choosing this tattoo, it was an opportunity to turn my mastectomy into a work of art!

After my mastectomy, I suffered complications with my reconstruction and endured an additional 4 surgeries. I was not interested in another operation to recreate nipples that would never look, feel or work like my real ones. That is when I knew that I was going to do things differently.

My search for a tattoo artist was a personal one. There are many talented artists in Montreal but I needed an emotional connection as well. After meeting with a few I met Meaghan Goeb. Her “realism tattoos” were spectacular and we bonded right away. I knew in that moment that she was the one! She was just as excited about this project as I was and I soon learned that breast cancer had affected her family as well. She understood that I was looking for a piece of art that would become an extension of my body, a new beginning. We both couldn’t wait to get started!

I decided on Magnolias and Cherry blossoms. Magnolias are very tough flowers that represent endurance, eternity and long life. Cherry Blossoms represent fragility and are a reminder that life is beautiful yet short. I gave Meaghan complete creative freedom with the design and colors. We spoke often throughout the month and when I went into the shop to see the final design and layout on my chest, it was above and beyond what I could have imagined.

The day of my first session I was up early, too excited to sleep. I had booked 4 hours. For those who have never had a tattoo that is a LONG time. I was prepared for the worst but hoping for the best. I no longer have feeling in my chest so I was hoping that maybe it would not be so painful. Well I was wrong! It was the most painful tattoo I have done to date. Thankfully, Meaghan and I got along great so the 4 hours were enjoyable.

tat1

After the second 2 hours session was complete and I walked to the mirror to see it fully finished, I could not believe my eyes. It surpassed all of my wildest expectations. The softness and realism of it looks like a painting. It feels like an extension of my body and I am ecstatic with the results. My scar has been transformed and I cannot stop staring!

tat

With an interest in documenting this life altering journey I have been working closely with a videographer named Chris Alsop. Chris is producing a 10 minute documentary in an effort to raise awareness to hereditary breast cancer, mastectomy tattooing and accepting beauty on your own terms.

Although it was not an easy decision, I decided to share my journey because so many women that I have spoken with post mastectomy feel ugly and scarred. Many do not feel sexy anymore and I hope that my story can help change that. Society shows an unrealistic version of what beauty is. I chose to keep one breast scarred because I like the story it tells. I like seeing where my story began.

Remember beauty comes in all forms and I am embracing mine on my terms, scars and all.

You can read more about my mastectomy tattoo in the NY Daily News and in the Global News.

mastctomytatDo you have a mastectomy tattoo or know someone who does?

After A Mastectomy You Get New Boobs! Yay! Wait, Not Really…

When I tell people about my mastectomy and breast reconstruction, I receive lots of support, many questions and even some rude comments. The most frequent thing I hear from both women and men is “at least you will get perky boobs” (insert awkward laugh here)

For those of you who, thankfully, have not had a mastectomy or been close to someone who is going through one, you might think that this is going to make us feel better. It doesn’t! I understand that it is meant to be a supportive comment, but, I promise you, this is not a normal boob job. Yes, I did get implants to replace my real breasts, but that is where the similarities end.

2 days post opp 4 drains

A breast augmentation consists of an implant being inserted behind the existing breast tissue. Typically this is for aesthetic reasons and is meant to enhance a woman’s natural breasts.  A mastectomy “(from Greek μαστός “breast” and ἐκτομή ektomia “cutting out”) is the medical term for the surgical removal of one or both breasts, partially or completely.” (Wikipedia)

I was sent home the day after my mastectomy feeling like I had been hit by a truck. Unable to stand straight, I walked and sat hunched over. The tissue expanders that were placed under my pectoral muscles made me feel like I was wearing a metal corset while an elephant sat on my chest. On top of all that, I was extremely nauseous from the anesthesia and, on the car ride home, it felt like every bump was going to send me over the edge.

drains

As awful as all of that sounds, the worst part, for me, were the drains. I wish I had been prepared emotionally for them because, although it is doable, it is by no means easy to handle them!

The JP drains (Jackson Pratt) are used after a mastectomy to remove any fluid buildup that can accumulate after surgery and cause infection. I woke up from surgery with 4 of them dangling by my side, under the bandages, and they stayed with me for 10 long days.

With every move, the drains would pull at the incision site and, on more than one occasion, I sat on one. Going to the washroom was an ordeal in itself. Where to place the drains? I never really found a great solution for that, but the trial and error was quite entertaining. After battling with the drains for a few days, I finally found a solution that worked the best for me. It didn’t make the drains any more comfortable but I was able to get around a lot easier.

I placed the drains in the pockets of a hooded sweatshirt that I turned inside out. Not attractive, but effective. To prevent the drains from pulling every time I moved, my daughter (who was 2 at the time) suggested “band aids for my boo-boo”, so that’s what I did.

When I returned to the surgeon ten days post surgery to have the drains removed, I was so relieved. I felt some pulling and pinching, but the unpleasantness didn’t last long. Whenever you speak with someone, who has had drains removed after a mastectomy, they will tell you it is a sense of freedom!

These new boobs of mine came at a price, but, for me, it was a price worth paying.

Until next time ☺

Much love

Karen

What was your experience with breast reconstruction following a mastectomy?  Did you have any trouble dealing with your drains?

Mommy, Where Are Your Nipples?

“Mommy, where are your nipples?”

These words I never thought I would hear coming out of my kid’s mouth. This is my reality; and I promised myself when my journey began over six years ago, that I would always be honest with them. I respond with, “The doctors removed them along with my boobies and fixed them so that I would never get sick with breast cancer.”

To those who don’t know about hereditary breast and/or ovarian cancer it makes no sense. People aren’t able to understand that by removing healthy breasts and ovaries, I have reduced my chances of developing cancer to less than 2-5%. If I had a dollar for every person that told me that I could eat right or exercise to avoid my risk of cancer, well, I would have a lot of money! As a BRCA2 mutation carrier, I was given up to an 87% risk of breast cancer and up to 40% risk of ovarian cancer. That knowledge alone was enough for me to take drastic actions. Cancer was NOT going to get me.  These are the realities of a previvor.

A mutated BRCA gene cannot be repaired. It cannot be fixed by eating right, exercising, or with natural remedies. If you have a mutated BRCA gene it’s because you were born with it. It has been ingrained in your DNA from the time of conception. If either of your parents has the BRCA mutation then there is a 50% chance of passing it onto their children. And yes, males can be carriers as well.

September 2008, when my dad called to tell me that he was waiting for his results from a genetic test, I had no idea what he was talking about. He explained that it was a blood test to see if he carries a mutated BRCA gene which could be passed down to me and put me at an extremely high risk for certain cancers. We didn’t have any breast cancer in our family that I was aware of, and, although sadly, one of my cousins was fighting ovarian cancer, I didn’t see how it was connected. While I knew he lost his mother to cancer while he was in his teens, I never knew the details.

On December 27th 2008, at my own genetic testing appointment I received my positive BRCA mutation results. Soon after my genetic counselling appointment, I learned from my father that he was able trace our family tree as well as health records from my cousin (who was fighting ovarian cancer at the time). I discovered that there was not only ovarian cancer in my paternal family tree, but breast cancer and skin cancer too (which we BRCA2 mutants have a slightly higher risk for).

karenandjoel

My amazing husband and best friend Joel

Walking out of my genetic counselling appointment, hand in hand with my amazingly supportive husband, my decision was made. I was going to have a risk-reducing double mastectomy and hysterectomy with oophorectomy (removal of the ovaries), ASAP!

Armed with my results, I got online to search for others who were in a similar situation. I was shocked to find almost no information or support about BRCA mutations. I needed to talk to others who knew what I was going through. I needed to connect with others who were living with a BRCA mutation. I needed to bond with others who understood how I was feeling.

Panic set in and breast and ovarian cancer took over every waking thought. Every ache and pain I felt I thought was cancer. My breasts and ovaries felt like ticking time bombs, like they were plotting against me. I had to get rid of them. Right away! I felt that it was not a matter of if I was going to get cancer but when. All I could think was, I’m going to get cancer and die young. I’d leave my husband a widower and my children without a mother. I was NOT going to let that happen!

On February 10th 2009, I had a full risk-reducing hysterectomy with oophorectomy. Once I recovered, I went back into the hospital on April 30th, 2009 to undergo a risk-reducing double mastectomy with the beginning of reconstruction (or, PBM; Prophylactic Bilateral Mastectomy as those of us in the BRCA community refer to it). From the moment I woke up from both surgeries, my fear was gone. I never once questioned my decisions. I was so proud of myself! I was elated! I had taken control of my life and dealt cancer a pre-emptive strike!

Going through with my surgeries and reconstruction was not easy and I was still looking for support which I wasn’t finding. Thankfully I found one girl who I connected with online, Teri Smieja, who also had a BRCA mutation and was going through the same preventative surgeries as me. It was such a relief to talk with someone who just got it. I felt like I wasn’t alone. It made all the difference during my journey and we have since become amazing friends.

karenandteri

Teri Smieja and I – Founders of BRCA Sisterhood

We decided that we would start a private Facebook group for women like us who needed support. In December 2009 we started the BRCA Sisterhood. It started with eleven women and has since grown into the largest, most active Facebook group of its kind with almost 5000 women worldwide and growing daily. It is a group that is filled with support and understanding. There is no judgment only love. Whether someone is choosing surveillance, chemo-prevention or risk-reducing surgeries, there is someone in the group going through the same thing.

Through the love, support and appreciation of all the women I have met, grew a passion for advocacy. I realized that I could make a difference. I felt something deep inside of me take over. The BRCA Sisterhood wasn’t enough, I needed to do more.

9 months ago I started a Montreal BRCA support group. The group meets once a month and allows everyone to have a face to face connection. It has been quite successful and I have received great feedback from the women who have attended.

I still feel that I still have so much to offer and share, which brings me to this, my next project, my blog. When Lacuna Loft approached me about writing a blog for them I was touched and humbled and happily agreed! Being able to affiliate myself with such a fabulous online cancer magazine will be a tremendous help in reaching a wider audience.

Whether you are dealing with hereditary breast and/or ovarian cancer or know someone who, is I encourage you to make sure that they ask questions, educate themselves and reach out and ask for help. No one dealing with something as serious as Cancer should ever feel alone. I have and will always be an open book about my risk reducing surgeries so if you have any questions at all please don’t hesitate to ask.

Much love and health,

Karen

xox

“We make a living by what we get, but we make a life by what we give.”
Winston Churchill.

Are you a previvor?  Have any love or tips to share?

Welcome Karen!

Lacuna Loft is excited to continue introducing some guest bloggers! These great folks represent a variety of perspectives on the myriad of topics covered here at Lacuna Loft. Before everyone starts really getting into the nitty-gritty of all they have to say, we wanted to introduce them a bit. Without further ado, here is Karen!

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I removed healthy body parts. My breasts and ovaries were plotting against me. Cancer was lurking in the background so I dealt it a pre-emptive strike. Why? I tested positive for the BRCA2 genetic mutation. It gave me an 87% chance of getting breast cancer and a 50% chance of getting ovarian cancer. If you knew your chance of winning the lotto was 87% wouldn’t you buy a lottery ticket? Or if the pilot told you that you had an 87% chance of crashing, would you board the plane?

Until 6 years ago my father and I had never spoken of his family history. After his first cousin was diagnosed with ovarian cancer and tested positive for the BRCA mutation I learned the truth; my paternal grandmother and great aunt both died of breast and ovarian cancer. Both were in their forties.

Knowing I had a 50/50 chance of inheriting the gene mutation from my BRCA2 positive father, I booked an appointment with a genetic counselor and waited for an anxiety ridden two months for my results. My husband was and is very supportive and my kids (who were two and four at the time) kept me busy but I needed a support system of women who were living with BRCA mutations who “got” what I was going through. I needed someone to talk to who understood what the waiting was doing to me emotionally and mentally.

Armed with a positive BRCA test, I moved quickly to schedule a risk reducing hysterectomy including my ovaries and a preventative double mastectomy with reconstruction. From the moment of my diagnosis knowing I was at such high risk of getting breast and or ovarian cancer I felt fearful and panicked. My biggest concern was waiting too long to have these surgeries. I wasn’t going to let cancer get me! The odds were too high. I was booked for surgery within 2 months.

I checked online hoping to find other BRCA positive women and only found a handful of people going through the same thing. They have since become some of my best friends. One of those girls, Teri Smieja, co-author of Letters to Doctors and I decided to create our own community of support and information. We decided to start the BRCA Sisterhood on Facebook, a private women-only support group for those dealing with hereditary breast and/ovarian cancer.

BRCA mutation carriers face different issues than those diagnosed with cancer. They have watched family members die and feel like ticking time bombs themselves. Many still face judgment from their peers and even family members who disagree with the choices they are making. Whether choosing surgery, medication or surveillance, there is no right way to handle a diagnosis and the BRCA is there regardless of which path they choose. The BRCA Sisterhood is the largest BRCA support group on Facebook and to date has over 4000 members worldwide.

Earlier this year, I started the first BRCA support group in Montreal, Canada BRCA Chat Montreal is a group for women dealing with BRCA or any other hereditary breast and or ovarian cancer. The first meeting was very successful and I have heard from many women since, expressing interest in upcoming meetings.

My passion will not end here; I will continue to offer more support and create awareness for hereditary breast and ovarian cancer. I will continue until a cure is found. Until women like me don’t have to remove healthy organs to prevent cancer. I guess that’s just another part of my DNA that is out of my control.