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Be proactive with your health

Updated on May 4, 2019
Meridith fink profile image

Breast cancer survivor without going through chemotherapy and radiation

Information on Braca Gene Testing

Hereditary Breast cancer
Hereditary Breast cancer | Source

Breast cancer Gene testing

When I was in high school I remember being in a science class and the teacher spoke about genetics. He had mentioned that cancer[MF1] can follow generation to generation, it can skip a generation, you can be a carrier or the one it was carried to. Since that day, it has crossed my mind on occasion that I would be the person in the family that would get the breast cancer. I never thought that there would be a test to check if you had a gene to predict your chances of getting the cancer.

Breast cancer testing and family history

I had my 1stmammogram at 35 y/o and then every year after. One day I was talking to my aunt on the phone about having a mammogram and she told me that both my grandmother and great grandmother died at an early age of breast cancer. She also told me that her and my other aunt had the BRACA gene test and genetic counseling in Manhattan when the test was very new. She told me that it was as simple as getting a blood test. That is when I decided that I wanted to have the test. I went on the Myriad website and they had a questionnaire to see if I was a candidate for the BRACA Gene Test. The results of the questionnaire showed that I was a candidate and should talk to a provider. I looked up on Myriad website for a doctor in my neighborhood that took my Insurance and performed the BRACA Gene test. I called the doctor and made an appointment to visit the doctor so I can see if I can have the test.

Discussion with my doctor for breast cancer gene testing

I met with the doctor, who was a breast surgeon, and she had me fill out a form regarding my personal and family history. She reviewed the form and asked me what testing have I had so far. I told her that I had been getting mammograms the last couple of years and she asked me if I was having breast sonograms with the mammogram and I had told her NO. She mentioned that based on my family history I should be having both the mammogram and sonogram every time. She explained that some things can show up on a sonogram that may not show up on a mammogram so she gave me a script that had both tests requested. I told her that I was interested in having the BRACA Gene test and does she think I am a candidate. She told me I was a perfect candidate for the test. I mentioned to her that my GYN doctor always discharged me about worrying about being a higher risk because the breast cancer was on my father’s side. She said that was the old way of thinking. She said based on the studies you are equally at high risk whether it is on your mother’s or father’s side. She explained the process of the BRACA Gene test to me, took my blood and said that she would call me as soon as the results came in.

Breast cancer gene testing results

I called the office to get my results 2 weeks later to see if they came in. The office rep stated that they would get the results and have the doctor call me back at the end of the day. I was 2 blocks from my house, coming home from work when the doctor called. She asked me if I was able to talk as she wanted to go over the results. I told her I was a couple blocks from my house, driving home from work and she told me she would like to talk to me when I wasn’t driving, so I pulled over my car and she started to go over the results.

She had told me that I have the Braca 2 positive gene but not the BRACA 1 gene. Women with a BRACA 1 positive gene have a 90% higher risk and BRACA 2 positive have an 82% higher risk for both Breast cancer and ovarian cancer than the general public. Based on this test result and my family history, my options to consider were Prophylactic mastectomy, Prophylactic bilateral salpingo-oophorectomy or surveillance of CA-125 blood test, surveillance with Mammogram, Sonogram and MRI every year. After hearing the results and options of the Braca gene test from my doctor I was very confused and worried about what to do. I wasn’t ready to get a bilateral mastectomy. I felt that it was going to take away my identity as a woman. I decided to remove my ovaries as I was told that it would reduce my risk of both breast and ovarian cancer. The estrogen from the ovaries fuel the breast cancer.

Breast cancer testing results and benign lumpectomy

A couple of weeks later I got a call from the doctor with the results of the first mammogram and sonogram I had with this doctor. The sonogram result showed that there was a suspicious finding that would need a biopsy. I called the Radiology site to schedule the biopsy immediately and had the biopsy the next week. The results of the biopsy came back as a benign neoplasm but my doctor told me that the tissue around the benign neoplasm should be checked so she scheduled a lumpectomy for me in a hospital in Brooklyn. The lumpectomy was done and everything came back benign. Then I scheduled the bilateral Salpingo-Oophorectomy with Dr. H so I can prevent the fueling of the breast cancer. The ovaries and fallopian tubes also came back benign. At this point now I would just have to have active surveillance.

The active surveillance would be that I would have a mammogram and sonogram in February and a Breast MRI 6 months later (August or September) and I would do this every year. Before I left the radiology site I scheduled my test for the next year. I was very dedicated to make sure that I had done everything I could for an early detection of cancer.

Diagnosed with early stage 1 breast cancer

After 3 years of surveillance and no positive results on tests, my Breast MRI on Oct 2012 showed a very suspicious mass that needed to be biopsied. My doctor’s office tried to get authorization for the biopsy by MRI but the Insurance Company wanted me to have a biopsy by Mammogram or ultrasound so I had to have the mammogram and sonogram to see if the mass can be seen. The mass couldn’t been seen on either of the tests so the Insurance Company approved the MRI with biopsy. The biopsy was scheduled for 2 weeks later and done by the radiologist. They had difficulty doing the biopsy because the mass was only 7 mm and difficult to see. I wound up with a very large breast hematoma when they were done with the biopsy due to the difficulty. Within a few days my doctor called me to tell me that the biopsy came back as positive for malignancy of invasive breast cancer. My doctor told me that my options I had, given the results of the biopsy, were Lumpectomy probably with Radiation or Double mastectomy with reconstruction and probably no radiation and chemo. I told her I had to think about it as I am really thinking about the double mastectomy. She told me that she thought I should have the lumpectomy for now. She wanted me to schedule the lumpectomy with her office before hanging up. I told her again that I needed to think about it and speak with my husband before scheduling the lumpectomy. When I got off the phone I spoke to the internal medicine doctor I was working for and told her about my results and the conversation I had with my breast surgeon. She recommended that I get a second opinion and I asked her what breast surgeon she would send her family to and she had told me the doctor’s name and I scheduled an appointment.

My appointment to have a second opinion was with Dr. Coomer and I was very impressed with her and the care her office provided. She explained the options I had was to have a lumpectomy, single mastectomy or double mastectomy. She told me that the cancer I have is known to spread to the lymph nodes. She did feel confident that due to the size of the mass it most likely didn’t spread but they will take out a lymph node under each underarm to make sure it didn't. She explained how they know the sequence of the cancer spreading to the lymph nodes so they will remove the lymph node that they believe it would go to first. The pathologist will be at the surgery and check the lymph node biopsies for the cancer and if they have cancer they will remove additional lymph nodes until they have negative margins. Once they take all the breast tissue out, they have it checked for cancer and if there isn’t any then no Chemo or Radiation would be needed as it would be early stage 1. If they do find cancer in the tissue then the chemo and radiation will be based on what is found. She did agree that the double mastectomy was the best decision due to the Braca2 status and the fact both my grandmother and great grandmother died of breast cancer young. I decided to have the double mastectomy with reconstruction, with no reserves like I did when the option was presented to me when I got the BRACA 2 gene positive results. The doctor told me that I needed to make an appointment to meet with the plastic surgeon to see what reconstruction options I had and once that was decided then I would call her office to schedule the procedure. She said I had a couple of months to decide but I wanted to have this done immediately. I wanted the cancer out of me. I met the Plastic surgeon and was very happy with his options and decided on nipple sparing mastectomy with tram flap using the tissue from my abdomen and no implants. The next available surgical appointment that both the breast Surgeon and plastic surgeon had available at the same time was the 2nd week in December. I scheduled it and was relieved that I was able to get it done as soon as possible and didn’t have to wait. The surgery I had opted for was going to be about 12 hours. After the surgery I was in recovery for a few hours and then was brought to ICU for the rest of the stay. I was in ICU as my body went through intense surgery and the doctors wanted to make sure I got the care I needed because the ICU department was well staffed with nurses. While in ICU my hemoglobin levels were tested and found to be very low. The resident doctors were concerned and wanted me to have a blood transfusion. I really didn’t want the transfusion. I asked the doctors to do what they could to get me out of the hospital so I can work on getting my hemoglobin up. I couldn’t get up if I couldn’t get out of bed and didn’t have access to certain food and drink. I was dizzy when the nurses tried to get me out of the bed so they were reluctant to do it too often. It was very painful to get up out of the hospital bed with the surgery done on my abdomen. When I was in pain they would give me morphine and it was making me very nauseous so I asked for an alternative pain medication like a pill and they gave me another medication in the IV and when they gave it to me I felt the room spinning. I asked them again to have the doctor give me a pain medicine pill and they gave me the pill and it was much better. I only asked for it a few times the 2nd day and then I didn’t need it anymore. The Plastic Surgeon was able to get me out to the hospital a few days later and my husband had gotten 2 weeks off to take care of me at home.

Early detection and being proactive with your health

It is very important to know your family medical history and the testing that is available to have that will help with early detection.

I am living proof that EARLY detection is key to a better quality of life and mortality. If i didn't have the Breast cancer gene test (BRACA) test, I wouldn't have had the MRI that picked up the cancer before it invaded my body. I could have just been another statistic of breast cancer deaths like my grandmother and great grandmother. My kids would have to grow up without their mom.

So please find out your family history and discuss with your doctor.

Before having the braca gene test you may want to consider reading this book as it gives you some information on someone going through the test and results. Pretty is what changes.

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    • Meridith fink profile imageAUTHOR

      Meri 

      9 months ago from Fords nj 08863

      Hi Lorna. Yes it’s so important to know family history and available testing. I hope I can reach others that can benefit from what I went through. Early detection is key

    • Lorna Lamon profile image

      Lorna Lamon 

      9 months ago

      He Meri and welcome to Hubpages. I was so impressed with your article which clearly shows through your own experience with breast cancer, how important it is to know your family history and be aware of the tests which are currently available. You have come through so much and by having the courage to share your experience will encourage others to take the necessary steps. Thank you for sharing and drawing awareness.

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