Friday, May 7, 2010

My Genes Now Fit: A BRCA Journey, Part 1

The Background

Our family has a history like many families: Our ancestors came over from Eastern Europe at the turn of the 20th Century to escape persecution and have more opportunities. They passed through Ellis Island, settled in a big city, Philadelphia in our case, and flourished. What we did not know was that there was something else growing as well and it would take most of the Century to discover.

In 1984, my father was diagnosed with breast cancer. I had not known too much about his mother, whom I am named for, other than she died from breast cancer when my dad was a teenager. Dad, being pretty stoic himself, never talked about it. My mother was the one who told me about my grandmother and the fact that she had two occurances and her mother died from either breast or ovarian cancer as well. My dad's oncologist commented that he had 4 cases of male breast cancer that year alone. In 1984, nobody was prepared to realize just how rare that really is. He received a radical mastectomy and we received the pathology report before he even was in recovery.

My younger brother was on a school trip to French-speaking Europe. I never made a long-distance call before and the operators both here and in France were so understanding since my vision was so blurry while I tried reading numbers off of the itinerary paperwork. From this point on, I always seem to call my brother when something bad is going on and he helps to ground me.He may be ten years my junior but so many years wiser.

Mom and I got home from the hospital in the wee hours and at 7 AM Dad called saying he was ready to come home. So, bleary-eyed but anxious, we picked him up at the hospital. Three days later he was back at the surgeon's office with a raging infection. As a post-script, I should not be surprised when I developed infections after my surgery!

Dad endured chemotherapy IV once a week for 5 years. This is so archaic compared to today's regimen of dose dense chemo. He was also on Tamoxifen every day the entire time. He got chemo on Wednesdays and Mom was with him during his infusion. We had a family business at the time and I ran the store while they dealt with the doctors' visits. Some afternoons they stopped in to make sure the walls hadn't caved in and it kept Daddy feeling a part of everything. If Daddy felt OK, he would come in later in the day and stay until closing at 9 PM. The store sold furniture so if he was feeling droopy he would lay down on a sofa or relax in a comfy wing chair.

I saw him go through so much and never really complain much. He wasn't thrilled with having to give up cigars and pipes but the alcohol was easy to forgo. He took Compazine for the nausea that continually plagued him, Lasix for the edema, bloodthinner to ward off clots and wore the compression stockings for the blood clot he DID have in his leg. Not much kept him down and when he got his port in his chest, he was happier with not being stuck in the arm anymore for anything.

Nothing really prepared us or him for the drastic surgery his oncologist proposed: he was to have his testicles removed to help keep estrogen production down. The breast cancer cells thrive with estrogen present in the body. Testicles are analogous to ovararies and perform similar functions. This was a devestating blow to him. I really don't think he ever recovered physically or mentally from that.

In 1989, dad passed away. The cause of death was liver failure. My uncle, dad's younger brother was shaken very badly. During the next several years he researched the libraries and later the Internet. He also did a family tree and realized we had a startling family history. Putting his research together with that he discovered a pattern of breast cancer and ovarian cancer. Some family members were diagnosed with "female cancer" which is hard to decipher exactly what it was. Armed with the tree and his findings, he talked to Dr. Mary B.Daly at Fox Chase Cancer Center in 1996. (See Dr. Daly's biography:

Dr. Daly and the genetic counselor had our family come in to hear about the testing being done for the newly discovered Breast Cancer Gene (BRCA).

Cancer risk assessment looks at your personal and possible inherited genetic factors that may put you at higher possibility for getting cancer. We comprehensively examine your profile for all cancer types, including — but not limited to — breast cancer, ovarian cancer, gastrointestinal cancers, prostate cancer, and melanoma. Knowing your risk helps you learn what you can do to lower your chances of getting cancer

Since we had a strong family history coupled with an Ashkenazi Jewish
ancestry, we were at a higher risk. Those of us present agreed to give blood samples and we were able to acquire the frozen sample of my dad's pathology. I later found FORCE, Facing Our Risk of Cancer Empowered ( on the Internet and learned about Hereditary Cancer:

All cancers are caused by changes to materials in our bodies called “genes.” These are units of information in every cell of our bodies. Everyone has two copies of each gene, one from each parent. During development, genes tell our cells what type of tissue to become—a skin cell vs. a muscle cell, for example—and in later life, when to divide and make more cells. Genes also determine which proteins to make based on the type of cell and its needs. Some genes tell our bodies how to repair damage from environmental toxins, sun exposure, dietary factors, hormones, and other influences, or tell our cells when to stop growing.

When changes called “mutations” occur in the genes, certain cells can grow out of control and cause cancer. Gene mutations that can lead to cancer usually happen later in life. Over time, these changes occur as a result of the aging process, from exposure to things such as smoke, hormones, certain viruses, certain chemicals or from dietary influences. Not all damage to our cells leads to cancer, however, because our bodies have many methods for repairing damage and because we are all born with two copies of these damage-repairing genes.

I was completely floored to find out that my test and my dad's came back as positive for BRCA2. I spent several sessions with the genetic counselor going over my options and a plan of action. I opted for increased surveillance. The thought at the age of 36 to have any surgeries to remove body parts was too much to handle at the time. I was also in the middle of a rocky marriage and I was not up to handling surgery.

I had been getting mammograms every year since I was 28 because of the insistence from my dad's oncologist. Now I was getting a blood test for CA125, a marker for ovarian cancer, twice a year breast check and the piece de resistance the Transvaginal Ultrasound. The mammogram was nothing to me compared to that! I dreaded it every year but I did not want ovarian cancer sneaking up on me. It is a silent killer and there were two cousins who died from it. The thing that was still puzzling to me was the fact that so many healthcare professionals still had no clue about the risk coming from the father's side of the family. There was no spot to check off saying mt father had breast cancer. The intake person at the mammograms always did a double take on that one. Their standard comment was that it didn't matter as much if it was with my father.

Today, we know that not only does it matter but it raises the risk even higher when being BRCA2 positive. So, for the following six years this was my journey, testing and heightened awareness of my body. The next steps I took were not until 2002 and I will delve into that in the next part.

PART 2: Beyond Surveillance


  1. Male breast cancer runs in my father too. My maternal grandfather died of it. My mother also died of breast cancer. Our family has the BRCA2 genetic mutation. I am working on a book that will be launched in October 2010

  2. Thank you for sharing your story and starting this blog. The more people talk about it, the more we will help other previvors.

  3. Lisa, I am always on a soapbox about patrilineal (sp?) BRCA2+ status. So many people, including some medical professionals, still think it is dependent on the sex chromosome. I cannot wait to hear Dr. Daly's workshop session at hte FORCE conference on Male Breast Cancer. Love to hear more about your book and if I can help, let me know.
    Love and hugs,