Deleterious BRCA1 Mutation – What Now?

21 Oct 2015 by Krystal Barter
Deleterious BRCA1 Mutation – What Now?

Pink Hope member Melinda shares how she felt when her family decided to undertake genetic testing and how she has used this information to be proactive with her own health.


It took many years for our family to decide that genetic testing would be the right thing to do. Uncovering the secrets that your chromosomes carry can affect different people in different ways. For me, I always felt that I would benefit from knowing whether or not I carried a genetic predispostion to cancer. If I were a carrier, it would mean that I would take a proactive approach towards my health, and do what I needed to preserve my wellbeing. I felt no fear. For my sister, on the other hand, it uncovered many different emotions. From a young age my sister had been incredibly vigilant with her health, having regular breast checks and following up on anything that worried her over time. In fact, she was scared out of her wits. The difference in our reactions probably had something to do with our differing ages when our mother suffered breast cancer. My sister was older, and was aware of the severity of our mother’s illness. I was very young, and did not appreciate what was happening to our mother during that time. Ultimately, we were lucky as our mother survived two close encounters with breast cancer.

It is quite ironic that when we were both tested in 2010, my sister did not carry the defective gene, and I did. I cannot express the relief that I felt when I heard her genetic status was normal! I cried with joy. When I got the results of my testing, the hardest thing for me to do was to tell my parents and my sister of the outcome. I knew that it would disappoint them to find out that the curse was maintained in our gene pool. I also have three daughters, and obviously each has a chance of carrying the BRCA1 mutation. At least we are aware of this.

Ovarian cancer currently has no effective screening procedure to detect its presence. Consequently, the rate of survival from ovarian cancer is low as it is commonly detected at its advanced stages. As a result of this, I decided that the best approach was to have my ovaries and uterus removed in risk-reducing surgery. I had a prophylactic salpingo-oophorectomy in November 2011. I was 38 years young and had decided that three children were enough. Fear of the unknown before the operation, that is, the consequences of removing my uterus and ovaries on my general health and wellbeing, was the greatest hurdle. More than a year has passed since the surgery. I have been using oestrogen patches to alleviate any menopausal symptoms and I really don’t feel any different to how I felt before the surgery. I am one of the fortunate ones.

Menopause increases the risk of osteoporosis and heart disease. I have returned to running as a form of exercise to counter these problems. I had a bone density scan last month and to my surprise I found out I had osteopaenia (low bone density), not quite osteoporosis, but I guess “pre-osteoporotic”. As a child I didn’t have a high calcium diet due to a milk allergy, and even during breastfeeding of my three children over almost 5 years, I was not careful to maintain a good calcium intake. I believe that these factors contributed to my low bone density. Either way, the situation will not get any better unless I am proactive about my bone density. I am now carefully monitoring my daily intake of calcium by being more vigilant with my diet. I am also embarking on more weight bearing activities to complement the running and maintain bone health.

You may be wondering about my breasts and what I am doing about them? Currently, I attend a high-risk clinic and am screened by mammography and MRI, alternating every six months, and by physical screening. However, I am reassessing my course of action all the time. Experience moulds our thoughts and affects our actions. I have two friends who are BRCA mutation carriers, who have had breast cancer in the last few years. I ask myself many questions:

  • “If I got cancer, would I be angry at the fact that I could have prevented it?”
  • “Surely having a mastectomy on your own terms is more favourable than a life saving procedure where you don’t have a say in what is being done to your body?”
  • “What impact would risk-reducing surgery have on my daughter’s feelings? I don’t want to scare them.”
  • “Surgery is a risk. Is it the right thing to do?”

I have a family who rely on me to be healthy and fit, and to be there for them. These decisions are always more complex than they seem initially.

Carrying a mutation does not mean that you will get sick. It simply implies that your chances of getting a particular illness are increased. I am a trained research scientist with experience in the proteins involved in growth and development and also in cancer metastases, so I understand the science involved. I truly believe that when you are armed with information about your own situation, you can use that knowledge to tip the scales in your favour. “Knowledge is power” as they say. Ultimately, you have to be comfortable with the decisions that you make.


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