Genetic Testing 101

By Guest Blogger: Troy Moore, Chief Scientific Officer, Kailos Genetics

Examining genetics for clues to cancer risk

Genetic testing offers new hope to those with a family history of cancer, helping to establish risk levels and pinpointing the best course of treatment for certain cancers.

Yet for all of its benefits, genetic testing is still in its infancy. It’s only been 25 years since the Human Genome Project was launched, and the secrets of human DNA are still being unlocked.

The benefits of genetic testing

Virtually everyone can benefit from knowing more about their DNA, especially if there’s a family history of cancer. You may have inherited more than your father’s unibrow and

Aunt Agnes’s china collection – there may also be a higher risk for cancer.

Because family history is a primary indicator of risk, you should be aware of who in your family had cancer and what types. Without genetic screening, it’s difficult to know if you are in a high-risk category and should start early screenings.

The genetic testing process

Genetic testing has become much simpler than in the past. Not only is it more affordable, but some labs can process a test based upon a simple cheek swab. The exception is if you are testing a tumor – a sample of the tumor will be needed to evaluate those genetic cells.

Almost any type of cancer has a set of DNA changes associated with it. Usually people are tested for specific types of cancer based upon their family history or environmental factors that may contribute to cancer (such as smoking).

Working with a genetic counselor before you are tested can help you determine which tests would be most useful. If your family history doesn’t indicate testing for certain types of cancer, you might consider testing for the most common types of cancer – breast, prostate, lung and colon. There is a strong knowledge base around those cancers, and the tests are well proven. The information the tests provide can be used to set an appropriate screening schedule based on risk.

Once tested, your genetic counselor can also help you interpret the results; for example, the counselor could explain that even though you have twice the risk of the general population for a type of cancer, if the occurrence is very low you probably don’t need to worry. They can also help to provide advice on how to discuss your testing with your family. Because you share the same genes, your genetic test can have implications for other members of the family.

Deciphering variants of unknown significance

The human genome has been mapped, but there is still much to learn about genetic changes, or mutations. After all, there are over three billion base pairs in the genome. Imagine the genome map as a road map that shows major highways and roads but doesn’t include smaller streets. As people travel those unmapped streets and information is gathered, the road map becomes more informative and useful.

This lack of information can be frustrating for people who have variants of unknown significance (VUS). While occasionally the VUS may be totally unique, frequently there just isn’t sufficient clinical data associated with it to know how it affects your risk of developing cancer.

Having a VUS doesn’t necessarily put you into a high-risk category; however, it does mean that a physician won’t be able to use that part of your genetic information to recommend earlier screenings or adjust a course of treatment. However, it is important that this information is cataloged into a public database, so that new insights about each VUS can be shared.

In the past, there was only one company conducting genetic testing and they kept the data they obtained proprietary. However, the National Institute of Health (NIH) has established and maintains a repository where clinical researchers and testing laboratories can deposit information about DNA changes and the criteria they used to make an assessment.

As more patient information is aggregated around a particular VUS, its meaning will become clearer. That’s why growing the NIH database benefits everyone – and helps add information around those gaps in the genome map.

Genetic testing is yielding new insights and understands of the role genes play in cancer risk and treatments. With the growth of this knowledge base, it will become increasingly valuable in the future.

"Information is Power" - Population Screening (Part 1)

Autosomal dominant mutations, like BRCA1 and BRCA2 are inherited at equal rates from mothers and fathers. However, the cancer risks differ between men and women. Currently genetic testing is only recommended to those who have cancer or those who have a strong family history of cancer. Within the high risk, research, and clinical communities there has been a lot of discussion about “population screening” in regards to cancer genetics. Dr. Mary-Claire King (credited with the discovery of BRCA1) has publicly advocated for population screening, recommending all women be offered genetic testing at age 30, regardless of family history.

Population screening is not a new concept, in fact it is often recommended for early detection of cancer. The USPSTF (U.S. Preventive Services Task Force) recommends women get a mammogram every 1-2 years, beginning at age 50. The American Cancer Society recommends mammograms annually beginning at age 45.

Dr. King and Ephrat Levy-Lahad, MD (Director of the Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel) led a study in 2014 to determine how the breast and ovarian cancer risk among BRCA1/BRCA2 carriers in the general population compared with that among carriers with a history of breast or ovarian cancer. 

The authors write, "In this study, 51% (85 of 167) families harboring BRCA1 or BRCA2 mutations had little or no history of relevant cancer. These families were small and included few females with mutations who had reached the ages of highest cancer risk. Young women in these families would not have been tested in the absence of a general screening program."

In 2014, Dr. Mary-Claire King challenged Huntsville/Madison County (Alabama) to be the first community to offer free genetic testing to 30-year-old women, regardless of family history. Kailos Genetics, in partnership with HudsonAlpha Institute for Biotechnology, accepted this challenge through a genetic testing program, “Information is Power”. The first free test kits were given out at the 2015 Tie the Ribbons event on October 29, 2015. Free/discounted tests will be available through the Kailos website for one full year, until October 29, 2016 for anyone over the age of 19 who lives in Madison, Jackson, Limestone, Marshall and Morgan counties (Alabama).

To date, Kailos has had over 500 participants take advantage of free or discounted genetic testing. We look forward to seeing what the results of this pilot population screening reveal.

Lila's Story (Land Family, Part 5)

 

In October 2013 my sister Marie tested positive for BRCA2.   This started what was to be a very eventful and busy year for my family.  My mother, Betty a twice breast cancer survivor & I had our genetic testing done in January 2014. We both came back positive.
  When my sister advised me what course of action she was going to do to reduce her chances of breast & ovarian cancer I felt it was extreme.   As I thought about the risks she was facing and possibly what I also could face if I carried the mutated gene, I decided that maybe is was not so extreme after all but wise.  So I talked to my husband - who is a boob man- and decided that if I did indeed test positive I would have a mastectomy and hysterectomy or what I refer to as the Full Monty. 

 When the genetic counselor informed me that I was indeed positive for the mutated gene.  I did shed a few tears.  My tears were more for my three daughters then myself.  I now knew  that they had a 50% chance of inheriting the BRCA2.  When the counselor started to inform me of my options I stopped her and advised her that I had already did my research & was prepared to undergo surgery. Three weeks later I was able to meet the three surgeons that would be performing the operations.  I was fortunate that all the doctors worked in the same medical complex and I was able to meet the whole team at the same time.   They told me I could have all the surgeries performed on the same day I said let's do it.  When one of my surgeons asked when I want to undergo the procedures I said the sooner the better, I had to be ready for elk hunting season in October.  I truly thought the doctor was going to fall out of his chair with my comment.  He then looked at me and said that I was the first woman he has ever had as a patient that said she wanted surgery in the spring so she could hunt in the fall. This must of made a lasting impression because the first thing I remember in the recovery room was the nurse telling me that I would be up & hunting in no time. 

 I was fortunate that I did not have any issues  with my insurance.  I think that the fact that I was 53 years old, BRCA2+ and had a mother that was a breast cancer survivor cleared the way for insurance to play along.

  On March 21, 2014 I underwent the Full Monty in Vail Colorado,   Nothing like having a hospital room with a view of the ski sloops during spring break.  My recovery and fills went smoothly.  On June 5, 2014 (my 9th Wedding Anniversary) I returned to Vail Hospital and  hand my exchanged for my new boobs.   Happy Anniversary hubby how do you like my new boobs? 

The BRCA2 mutated gene has a strong hold in my family, my mother, sister, my 33 year old niece, who I am proud to say is now a breast cancer survivor, and one of my three daughters.  We refer to our plight as the Family Affair.    

 Of the five of us, four have had the Full Monty,  my daughter has ran into some issues with her insurance covering preventive surgeries,  I still hold out hope that they will come around.

  I was the first in the family to undergo the Fully Monty, remember I had to be ready for hunting season so I was in a hurry.  I texted pictures of my progress to my family after every fill.  My family joked that they wanted me to go first so I could let them know if it hurt.    

 We have keep a sense of humor during the last year.  We have our t-shirts that say "Heck yea there fake the real ones tried to kill me."    I have been stopped several time and asked about the t-shirt, I find this a great educational tool and encourage women to get mammograms.  

 In the last year I have discovered several things about my new boobs,  they get COLD,  I live in the highest city in North America & it can snow any month of the year.  I better have a bra or base layer on or I will be walking around with two ice cubes for boobs.   I sure wish someone would invent boob warmers. I have also done a repeat of the hot flashes & night sweats - I told my husband if he ever sees me outside in the snow naked doing snow angles, I'm just trying to cool down. Please don't think I have lost my mind.    On a positive note I do have a  new party trick, I can flex my peck muscles and my boobs move up and down just like the body builders on the beach.  If I'm ever at a nude beach or need a great bar trick this could come in handy.    If I can pass along one thing that I feel will help other going down this road is to keep a sense humor.  Cry when you need to, but laugh as often as you can. 

 As I enter into my second year as a Previous,  I keep moving forward with a smile on my face and perfecting my peck flexes just in case I ever end up on a nude beach.  

Lorena's Story

Since I can remember, I spent a good majority of my time in hospital waiting rooms and cafeterias. My Grandmother (Mami) was diagnosed with ovarian cancer for the first time in 1996, at the age of 59. When she was first diagnosed, testing for hereditary cancer was discussed but the doctors urged against it, asking my family what they would do differently had they found there were positive for this gene. Deciding against it my 4 aunts would go to the doctor every year for routine check-ups, keeping in mind their extensive family history.

For the following 15 years we spent countless days in hospitals, practically a second home. Unfortunately in the spring of 2011, 15 years of fighting and two reoccurrences later, my grandmother passed away in her sleep.

On April 29^th, 2014 lying in bed after a long day of class, my mom walked into the house, much earlier than usual. It caught me off guard, but I didn’t think much of it. Until she walked up to my door and said, “instead of getting a tattoo with teal (ovarian cancer) and gray (brain cancer), we’ll get a teal, gray, and pink (breast cancer) tattoo!” She later said, she didn’t know how to tell her only daughter that she had cancer.

Upon multiple doctor visits, the oncologist told her she most likely was BRCA+ and tested her on the spot. At 42 she was diagnosed with breast cancer, found out she was BRCA1+, underwent multiple surgeries, went through chemo therapy, and radiation. With the love and support of her entire family she received her clean bill of health.

Following her completion of chemo therapy, I decided to get tested. Many of her doctors urged me to wait because I am so young. Finally a doctor agreed, and told me that making the decision to get tested and fight back against this gene was very responsible and mature of me. I got tested following my 20^th birthday, and found out I was BRCA1+ in November of 2014.

At this age, it is difficult to know where to start simply because doctors say we’re too young for MRI’s or mammograms. But making the first step to go into a gynecologist or breast surgeon’s office, gives you a great baseline and will ultimately open your eyes to all of your options. People may tell you “no!” because of your age, but push back and make sure that you feel comfortable with your decisions and options, because KNOWLEDGE IS POWER.

In late June my mother and I attended the FORCE conference in Philadelphia, PA. A group for people who are dealing with or are at high risk for hereditary cancers. It included a great deal of important information, and introduced us to an entire community of support and people dealing with the exact same thing as ourselves. I encourage anyone dealing with hereditary cancers to look for them online or to find support groups nearby.

I am also working with Mollie Smith, who started BRCAn’t Stop Me at Grand Valley State University, to create a branch at my school, Arizona State University. We hope to “raise awareness of the BRCA mutation among young adults and to provide support for young adults who have or are affected by the BRCA mutation.” We hope to see the club in full swing at Arizona State by this fall or spring 2016.

Feel free to follow me on tumblr where I keep track of all my doctor appointments, group involvement, and other BRCA related information.  http://lorenaslyfe.tumblr.com/

 

 

Irene's Story

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It was 2013 when I got a call back from my Dr's office stating that I had calcification in my right breast. I was shocked and scared.  Dr's sent me to get a biopsy.  It turned out that I had invasive DCIS. 

My Dr was unwilling to test me, so being proactive, I self refereed myself to a genetic counselor. Being Ashkenazi Jewish puts me in a higher risk for having the mutation. It was a week or so after my lumpectomy when I got my results. I was BRCA2 positive. 

  After six months of grueling chemo and much research, I made the decision to have a bilateral mastectomy and an oopherectomy in order to greatly reduce my risk of breast cancer reaccurance. Being a mutant also increases contralateral breast cancer up to 65%. The decisions that I made were the best decision that I could have ever made for myself and for my family.

Denise's Story

To know my story, I have to start with my mom.  It was 1995 and I still remember “The call”.  So many others have received a similar call.  You know the one where the person on the other side says, “It is breast cancer, but don’t worry we have great doctors who told us it is treatable.”  I remember being in a fog around my roommate and my fiancé (now husband) that day.  I remember selfishly thinking, no she needs to be ok, and I need her here to help me.  Not really thinking about her and her needs and dreams for her own future.

The year of my mom’s surgeries and treatment were a blur.  I worked in Omaha so I could sit with her during some of her chemotherapy sessions.  As the year went along we also planned my wedding, and just like the doctors promised, she did get better. And ever so slightly I allowed cancer to drift out of my mind.

About ten years after my mom’s initial diagnosis, I was taking a walk with a friend who mentioned something about her mother and herself looking into taking a genetic test for Breast Cancer.  I had never heard about this type of test before.  They were exploring this option because of her mother’s breast cancer history so they could tell if her cancer was bad luck or due to genetics.  The idea intrigued me, but I didn’t see how it applied to me.  Little did I know….

In 2009 cancer invaded our lives again, but not where we expected.  My mom had always been vigilant about monitoring her breasts, but this time it was in her colon and spine, and it was aggressive.  Life had changed so much; I had now been married several years and had two small children. I had forgotten about my conversation about the genetic testing and all my energy was focused on my mom’s treatment and health.  This time around the doctors were not so promising, and we didn’t even get a full year with my mom.  It took a long time to process the toll this fight took on all of us, and how much we missed her in our lives.

With her gone I knew I had to prioritize my focus on my own health.  Starting in my early 30’s I had been having yearly mammograms because of my mom’s breast cancer history. Closer to my 40’s my OB/GYN and I had also been talking about my ovaries.  I had been having difficulties with ovarian cysts and we had tried several options to control the cysts and my menstrual cycle but nothing seemed to work, so my OB/GYN offered a hysterectomy as a final option. 

During those conversations I remembered my mom attributing the hormone replacement therapy she took to relieve her menopause symptoms as the cause for her breast cancer.  It is funny the things you remember your parents telling you when you least expect it.  So as I was having discussions with my OB/GYN, about my own surgical options, and having to possibly take those same hormones, I remembered the conversation I had with my good friend about genetic testing, something that no doctor had brought up to my mother or to myself up to this point. And now it was I that wanted to find out if my mom’s cancer was because of “Bad luck, or Bad genes”.

Since I wasn’t sure where to start, I first met with my mom’s oncologist.  Sitting in an oncologist’s waiting room, as a “patient”, but not having cancer is unnerving. Yet the irony of sitting in the same doctor’s office that my mom had sat in as an actual cancer patient so many years ago was not lost on me.  I realized how fortunate I was to be in this situation, where as the majority of people who were there to see this doctor were very sick, and would have given anything to be in my same situation to possibly know what caused their cancer, and to prevent it.  My mom’s oncologist was wonderful.  He remembered working with my mother and told me she met one of the criteria of the genetic testing, which was she had breast cancer prior to age 50, or “pre-menopausal”.

My mom left home at age 16, so when I met with the genetic counselor. I was only armed with my mother’s own cancer history and a bit about her family history that she had noted on a small piece of paper during her first bout with cancer, about two of her great aunts having stomach cancer.   When the genetic test results came back, I found out I was positive for the BRCA 1 mutation, putting me at elevated risks for both Breast (87%) and Ovarian (up to 54%) cancers. 

I remember getting the information and not being that surprised.  It seemed as if I knew it was going to come back positive.   Since that day I have met several other individuals with similar cancer causing mutations.  In their families, it really does seem as if cancer is stalking everyone, so it makes my own family’s history look fairly blasé, so I’m not sure what gave me the impression that my mom’s cancer was so different.  However, when I had my follow up meeting with my mom’s oncologist, he told me he was surprised.  He went on to say if he would have had to guess he would have actually said he thought my mom’s cancer had been based on “bad luck”, but this was why he never bet against genetics.

I scheduled an appointment with my own amazing primary care doctor.  I remember telling him I looked at him like Switzerland.  He was neutral and it was just his job to keep me healthy!  He wasn’t there to cut me open, give me chemo, or anything else… just advice.  He laughed, and said with BRCA, I was somewhere between a rock and a hard place but he thought he had some good recommendations for me, in terms of a solid surgical team, if I wanted to meet with them to discuss options.  I didn’t have cancer and I wanted to keep it that way.  The benefit of being on the proactive side of things is you have time to do your research and to find the right doctors you feel are going to listen to you and are at the top in their field in this area.  Surgery isn’t the only option. You can monitor for cancer or take chemo prevention drug therapy; however, I had seen what this beast did to my mother and I knew I would do whatever it took to avoid that fight.

I went to the University of Nebraska Medical Center where I met with Dr. Edibaldo Silva, a surgical oncologist who specializes in breast cancer. I was blown away not only by his incredible knowledge in this particular area, but also by his caring and compassion nature during our meeting. He was able to put both myself and my husband at ease in discussing all the areas of risk that go along with BRCA. I loved how knowledgeable he was in this area and that he used the most up to date research with high risk individuals, such as myself, to determine the best surgery options for me.  Dr. Silva then recommended I meet with UNMC doctors Kerry Rodabaugh, an OB/GYN surgical oncologist, and Perry Johnson for plastic surgery.  

Dr. Rodabaugh went through all my options and explained that with my mutation, the best practice was an oophorectomy (removal of ovaries and tubes), which could be done laparoscopic.  She also made sure I understood how removing my ovaries and tubes would also reduce my risk of breast cancer by removing the estrogen.  Of course there were still risks, but I could live with those… I figured we were all going to go through menopause, I just got to pick the time and date.  Hello little white dress club!! However, when I all of a sudden realized that this was really going to happen much sooner than I had originally planned and I needed to figure out what I was going to do for my future follow up gynecological care, she also told me she was more than happy to follow her high risk patients.  Whew!

Final step was to figure out the plastic surgery options.  I’m, not sure what kind of patients Dr. Johnson normally gets, but I know on that day I was a pretty unwilling one.  I never was interested in plastic surgery, but there I was, talking to a plastic surgeon anyways.  He patiently listened to all my questions about implants and surgical choices making me feel as if all of my questions were important, even the one about scuba diving with implants (yes you can dive with them). On the Friday before my surgery I had one final meeting with Dr. Johnson, because it just didn’t seem right to not meet with someone who was going to have such a major impact on the way I was going to look after this was all done.  All my surgeries were going to be done at once, I called it my “trifecta” surgery, and he was at the end, so I wouldn’t see him at the beginning of the day. During that meeting I told him he better make them look “good”, because regardless I was going to tell everyone that he did them! He took it all in stride and told me not to worry.

As part of my journey I decided to throw myself a party, to celebrate my health.  I called it my “Bon Voyage to my Boobs, Au revoir to my Ovaries party”.  On the eve of my party was when I finally told my 8-year-old son and 6-year-old daughter about having the BRCA gene mutation, and what that meant for our family.  My son, who loves science, very quickly asked if grandma had this same mutation, and I said “yes” and then asked if he had the mutation, and I had to say “Maybe”.  He then asked, if I would be here help him if he found out he had the mutation, and I said “ABSOLUTELY”!  One of the husbands of a dear friend also stopped me as they were leaving the party and looked at me and simply said, “Thank you. Thank you for being strong enough to not leave your husband a widower and your children orphans”.  That simple statement has always stayed with me during this journey.  I have always thought the true warriors are those that have to fight cancer, because they didn’t have a choice.  Cancer invaded their lives and they had to battle this horrible disease.  However, I will say I am proud of my strength to do what is right for me and my family. 

My amazing husband, children, family, friends, work… everything fell into place for me during this process. It was as if it was my mom’s last motherly duty to make sure all the pieces fell into place for me.  The individuals I have encountered have been some of the most incredible and passionate people I have ever met.  And the personal journey I have taken on this walk has made me grow in ways I never thought possible. 

I know how incredibly blessed I am that I found out I had the gene mutation before I had cancer. And until science and medication can fix this mutated DNA, I will do everything I can to help others realize, just like my friend did for me so long ago, that there could be a family risk or genetic risk that is causing the cancer in someone’s family, so no one else has to say good bye to someone they love simply because of a “Bad genes”.

 

Acacia's Story (Land Family, Part 4)

In winter of 2013 my family found out that the BRCA 2 gene was among us. I remember reading the email from my aunt that started the “family affair.” I was sitting there with my husband on the couch and I remember crying as I read the email. At 31 it is not something you really think about or want to think about. I remembered immediately talking to my mom to see if she was going to be tested, which she was. I remember telling myself not worry and wait to find out if my mom was positive first before really “thinking” about it. In January, the news came back that both my grandma, who is a two time breast cancer survivor, and my mom tested positive for the gene.

My mom took action quickly and by March she was all set to have her preventative double mastectomy and her complete hysterectomy. I was there with my step-dad the day my mom had her marathon surgeries. It was a long day, but knew my mom was getting excellent care and getting to kick cancer’s ass before it could kick hers.  

By the end of April 2014, I made my appointment to see the genetic counselor and after what seemed like forever, my insurance finally approved the test. In June, a few days after my first cousin was diagnosed with breast cancer at 33, I got my results; I too was BRCA 2 positive. I have an 84% chance of breast cancer by the time I am 70 I was told. I remember sitting there in the doctor’s office, expecting my results to be positive, but still crying when I heard the news. I guess I was holding out hope that the 50% chance was going to be in my favor.  The genetic counselor and I talked about the results and what the different options do to diminish your chances of breast and ovarian cancer.

I called my husband right after I left the doctor’s office, crying as I told him the results. He was so encouraging and supportive. We had decided prior to finding out the results that I wasn’t going to “jump” right in a do the preventative double mastectomy because we had a trip to Jamaica planned for a friend’s wedding in a few months. We thought in the next year or two, that is when I will do it. So, I chose the early screening route. Not once did I think I would have any issues in regards to insurance. Call it naïve, but I just assumed that because I was deemed high risk, everything would be okay on that front. So, I scheduled my very first mammogram.

On a Friday afternoon, I got a call from the breast center that preformed my mammogram; this also happened to be the day my cousin was having her double mastectomy. I was told that there were some microcalcifications that were of some concern and they wanted me to come in for a diagnostic mammogram. I remember feeling defeated and thinking how much I didn’t want to follow in my cousin’s footprints, but knew the possibility was there.

A few days later I had both my vaginal ultrasound and my diagnostic mammogram. My ultrasound came back fine…just an ovarian cyst, but nothing to be concerned about. My diagnostic mammogram still caused some concern for the radiologist and we subsequently scheduled a contrast MRI and a breast biopsy. By the time all of this went down, my husband and I had to cancel our trip to Jamaica. We just didn’t have the finances at that time to pull off the expenses of the MRI, breast biopsy, and the trip to Jamaica. Thankfully, the MRI came back clear and the biopsy didn’t show any signs of cancer. I remember feeling so relieved. I was at work and remember coming out my office crying, happy tears, that I dodged it for now.

Everything happened so quickly and it took a month for my explanation of benefits to arrive for my screenings and procedures. My MRI and biopsy were all preapproved and I had no issues. My mammogram, diagnostic mammogram, and vaginal ultrasound were a different story.

Each one came back denied for not being a covered benefit under my plan…over $1800 worth of procedures. After nearly 5 months of calling the cancer center and my insurance company, things were slowly getting sorted out. The diagnostic mammogram was cleared first, a billing code error and it was covered at 100%. Then my ultrasound was finally corrected and covered as well at 100%. However the first mammogram, the one that started my roller coaster kept coming back denied, regardless of the information submitted or the codes that were used. It became clear that my last hope was to do an appeal to my insurance company.

So in December, almost 6 months after it all started, I sat down and wrote an appeal letter to my insurance company, making my case to cover the mammogram. I submitted my test results, peer-reviewed journal articles, information from different websites, and information given to me by my doctor. During that time, I kept getting the bill for the mammogram. Watching as the deadline would come and pass. I knew the “drop dead” date in which the bill needed to be paid by before it would go to collections…February 4, 2015. A week before the deadline, I finally received a response. My insurance company granted me a ONE time exemption to their policy for the mammogram. They made it really clear; this would be the only time they would make this exception.

So here I am now, wishing I could have a preventative double mastectomy so I can kick cancer’s ass before it has a chance to kick mine, but I can’t. My insurance company, which I have through work, doesn’t cover enhanced screenings for women at high risk nor does it cover preventative surgeries. I also make too much money to receive assistance to cover mammograms from multiple non-profits in the area.

I have moments of jealousy when I hear of women, even ones in their early 20s, having no problems getting the screenings or the preventative surgeries covered. Why? Why can’t I be one of them? I remember initially thinking that I was happy I was the sister who came out positive while the other two came out negative because I felt I had the support system and finances to handle what was a head of me. Now, I don’t think that way as much, instead I have the weird feeling of wishing that the biopsy showed cancer so I could just bite the bullet now instead of wondering when it will happen. I mean sure there is a 16% chance I will never get breast cancer, but the odds are so not in my favor.

So what am I doing? Well, in June I will have another mammogram, which I will pay completely out-of-pocket. It is hard to say what I want the results to be. If it shows cancer, I can do something about it now. If I don’t have breast cancer than whoohoo, I don’t have cancer, but will be left wondering when will my time come? When will I get the news my grandma received twice and my cousin, who is just a year older than me, received? When I turn 35, I will be able to get one mammogram covered, but will have to wait until I am 40 before they would cover another one and then 50 until they will cover them yearly. All I am left with is hoping my insurance will change its policy sooner rather than later. I cannot afford the traditional early screenings my doctor and many other doctors recommend. I cannot afford paying for a yearly contrast MRI, but at least I can afford the yearly mammogram and I can only hope that if cancer does make its presences in my “time bombs” that the mammogram will catch it and catch it early.

~Acacia Fike-Nelson~

Marie's Story (Land Family, Part 3)

I was 54 years old, and my GYN had retired.  He had taken care of me for 17 years.  He knew my mother had been diagnosed with breast cancer in 1995 and then again in 2012.  That is because he also took care of her.  Nothing had ever been mentioned to me about getting genetic testing done to see if I had an increased risk of developing breast cancer.  At the time, we thought my mother was the only family member that had been diagnosed and treated for breast cancer.

With my GYN retiring, I had to choose another GYN.  I was fortunate enough to have picked one that believed in doing genetic testing when there was a family member that had already been diagnosed with cancer.  I was not pushed to do the testing, but was informed that it was available, and my family history on the questionnaire revealed that my mother was a 2 time breast cancer survivor.  With this information revealed, my GYN stated I was a good candidate to see if I carried the genetic mutation that would increase my risk of getting cancer.  I was all for getting it done, just to see if I was possibly going to follow in my mother’s footsteps.  Having watched my mother go through her phases of discovery of the cancer, verified diagnosis, treatment with tissue sparing surgery, power port placement, chemotherapy, hair loss, the “yucky” feeling of all the side effects, and then radiation, I knew that I wanted to avoid getting cancer if I had any way of knowing my risk factor.

I did my BRCA testing on October 3, 2013.  Fortunately my insurance covered the entire cost.   My results (BRCA2+) were called to me by my GYN on October 31, 2013.  Along with the results, she informed me that she was referring me to a breast specialist who dealt with genetic mutations for breast cancer.  In early November 2013, I had my appointment with my breast specialist.  She examined me, asked lots of questions about my family history, and explained all the options available to approach this knowledge of my mutation.  There were three options:  1) increased surveillance, 2) long term oral meds (tamoxifen), and 3) preventative surgery - bilateral mastectomy with reconstruction.

I knew that for me, doing increased monitoring was not a good option.  I would need to be seen every six months for a mammogram and then bilateral MRI of the breasts at alternating visits.  I had a hard enough time making sure I was getting in at one year intervals to be seen for my GYN appointment and mammogram.  My increasing number of visits was a not going to fit well with my schedule.

Taking long term oral meds was not a good option for me either, because I did not take any meds on a routine basis, and I knew that I would have a difficult time remembering to be faithful in following through.  Plus, I was aware of the possible side effects of the medication.

The plan that fit best for me was to have the preventative surgery.  But to get to that point, I still had to have the MRI, which needed to be approved by my insurance company.  In the meantime, my breast specialist strongly encouraged me to have a hysterectomy because of the increased risk of getting ovarian cancer which is harder to detect.

I had my robotic laparoscopic assisted total hysterectomy with bilateral salpingo-oophorectomy in December 2013.  My pathology was clean – no presence of cancer in the tissue removed.  Hooray!  One type cancer risk had been decreased.

In January 2014, my insurance approved my MRI.  That was scheduled for February 2014.  The results looked good -no suspicious lesions.  That was great news.

Now I had to wait for my insurance to give approval to have the preventative surgery.  Finally in April 2014, my insurance approved my bilateral mastectomy with reconstruction.  I went to see my chosen plastic surgeon and we discussed reconstruction options for me.  I chose to have reconstruction using Latissimus Dorsi muscle flaps with insertion of tissue expanders.  This was going to give me a more natural appearance after all the surgeries were complete.  I chose not to save my nipples because my mom’s cancer was invasive ductal carcinoma.  I wanted as much tissue gone as possible.

In May 2014, my breast specialist and plastic surgeon had coordinated time they could both work together to get my surgery completed.  It was an all day event, but I did well, and stayed in the hospital for 3 days.  My pathology for this surgery was clear and I was now a “Previvor”.  I managed to get all my preventative surgeries done and escaped the cancer diagnosis.  

Granted I still had other surgeries to go through.  I had multiple fills on my expanders through the next few weeks, and my plastic surgeon wanted me to wait for at least 3 months after the last fill before doing the tissue expander exchange to the implants.  I was all for the wait, I needed a break and try to have a normal schedule for a while.

In September 2014, I was able to get my 2^nd stage reconstruction with fat grafting to fill in the areas around the implant to give my breasts a full natural look.  That was the easiest surgery so far.

Fast forward to today, early April 2015, I am now at the point in my journey where I need to decide if I want to have my nipples reconstructed.  That is something I have not decided upon.  I go see my plastic surgeon again in late April 2015 to discuss this and make a decision.  If I do the reconstruction, I will later get nipple tattoos to make them look natural.  If I do not do the nipple reconstruction, I can leave them as they are, or go for 3D tattooing or some interesting tattoo to cover my scars.  I am not unhappy with my scars.  I literally have a circle scar on each breast where the mastectomy was performed.  I also have a straight scar under each breast on the mammary fold.  It is not even visible.  These scars under the breast were from the exchange surgery.

Who knows what the future will bring.  I have shared my test results and progress with my family from the beginning.  After I got my BRCA2+ results, my mom and sister had their testing, later followed by my daughter, my 3 nieces, my brother and my son.  There were a total of nine in the family tested.  Of those nine, five are positive for the BRCA2 mutation.  Fortunately, for the four that had negative results, they will not have to worry about their children ending up with the mutation.  For the rest of us, well, we will see as the children grow to adulthood and decide if they want to get tested.  

A good thing in my favor was my very supportive family, friends and co-workers.  Just within our family, we had four of us with overlapping Dr.’s appointments, surgeries, various testing, treatments, etc.  We were all in it together.  We are Facebook users, and my sister found the BRCA Sisterhood page.  We each asked to be a member of this page, and we were accepted because of our BRCA status.  There is a wealth of information provided, lots of stories of others and their journey, pictures that were shared from transformation of before surgery to results along the way through the healing stages, and final pictures of completed reconstruction.  There are also stories about those that chose to do increased surveillance instead of preventative surgery.  This group of ladies is extremely supportive, and there is usually someone available at any time of the day or night.  They may be in a different town, state, or even country, but we all are traveling this road.  The sharing of others journey lets you know, you are not alone.  

For anyone trying to decide if they should get tested for a genetic mutation, it is a personal decision to discuss with your Doctor and genetic counselor.  Get all the information you can and make an informed decision on what works best for you.  There is no right or wrong answer.  Each needs to decide what is best for their situation.  

I am aware the sharing of my story will be used on a public blog.  I have consented to placing my story on this blog, in hopes that others will gain knowledge and/or benefit from my experience.

~Marie Wheeler~