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Thoughts from Debbie
I was sitting in a restaurant called Carraba’s with my husband and 2 kids (we now have 3) when my sister called to tell me she had breast cancer. I knew she was awaiting biopsy results – but still I was shocked. What I remember most about that moment is the sense of unreality that swept over me. I knew my sister’s life had just drastically changed, and mine too – but all I could do was sit there and try to breathe. It seemed so strange to me that no one in the room had any idea of such a huge event happening right next to them. Unreal.
Carraba’s closed down soon after that – a fitting end, I thought, to a place filled with the fear of the unknown.
I called my doctor the very next day – and remember getting my first mammogram very quickly – maybe even that day. During that appointment I was given a pamphlet about hereditary cancers. My doctor told me that my sister’s young age at diagnosis (35) made her want to give me the pamphlet – and advise me to call the Hereditary Cancer Center at Northside Hospital in Atlanta. I also remember her telling me that my sister really should be tested before her scheduled single mastectomy – because it might change her surgery choices.
During my initial call (in October of 2004) I got a little bit of information about the BRCA1 and BRCA2 genetic mutation – but was told that my sister who had breast cancer was the one who needed to be tested first. This made absolutely no sense to me at the time – it’s just 2 little mutations, can’t you test me first? But I obediently called my sister and asked her about it. Sherry’s response, in my memory, was something like “I already know I have cancer. Why should I be tested?” Which seemed really logical to me, and I dropped the issue.
My memory of the next few years is a little cloudy – what I do remember is my doctor continuing to bring it up during my many visits in 2005 (I was expecting my 3rd baby, and was at the doctor constantly). I also remember my husband’s uncle, a retired Ob/Gyn doctor in California – also encouraging me to pursue genetic testing.
Finally at some point, I asked Uncle Chuck WHY she needed to be tested first. It made no sense to me! He explained to me that it would be beneficial to all of us in my family to find out if Sherry’s cancer was connected to a BRCA mutation – because then some preventative measures could be taken. But she needed to be tested first, for a few reasons – but mainly because if she did not have a mutation, then they would know her cancer had no connection to known BRCA mutations, and the rest of us would not need to be tested (at that time insurance didn’t always cover testing, and it was expensive). But if she DID have a mutation, then we (her 3 sisters) had the same chances as she did of having the mutation – since it had to come from either our mom or our dad, we all had a 50% chance of having the mutation. The mutation, as you know, greatly increases your chances of developing breast cancer – in some estimates, you would have up to a 90% chance.
After relaying Uncle Chuck’s info to my sister, I remember that what convinced her to be tested was her nieces – and the realization that she could help fore-warn them of a cancer risk, and allow them to do something about it. She was tested in August of 2007 – almost 3 years after her cancer diagnosis. I was tested the following month. My other 2 sisters were tested soon after that. All 3 of my sisters’ tests came back as “positive for a deleterious mutation” on BRCA1, and, surprisingly, also “positive for a variant of unknown significance” on BRCA2. (the variant may or may not have a connection to breast cancer – they are unsure at this point). There was no mutation or variant detected for me.
We have since found out that our mom is the carrier of the variant on BRCA2, and our dad is the carrier of the mutation on BRCA1. My mom’s sister and mother both had breast cancer – but chose not to be tested, so we do not know if they carry the variant or not.
I went to Northside Hospital to get my results – she handed them to me and I immediately burst into tears. I felt such a weight on my shoulders – I remember feeling an incredible amount of guilt that my sister had this mutation and I did not. Afterward I found out that my other 2 sisters also were carriers. They were so strong in dealing with it – each in their own way, and sometimes very differently – but impressively strong. They all decided to have prophylactic mastectomies – and 2 have also had oophorectomies (removal of ovaries – because this mutation is also connected with up to a 50% chance of developing ovarian cancer).
I have 2 main memories of the time following our testing – firstly, the sense of unfairness that my sisters had to be carriers – and deal with the fear, surgeries, life changing stuff – while I did not, and secondly – a huge sense of gratefulness that they could do something about this risk. My sisters will not die from breast cancer. They have less of a risk now than I do!
At this point – after everyone is healed from their surgeries, we are to the point of talking about being relieved and grateful that we know about this risk, and can do something about it. The decision is overwhelming at first – and the succession of surgeries is a stress only my sisters can share about – but afterward there is a sense of taking a deep breath and being thankful.
I have gone to a few BRCA support meetings – and so I know of some people who know that there is a BRCA mutation in their families, but choose not to be tested. I know the decision is deeply personal. But I am indescribably grateful for my sisters’ bravery in being tested. I can understand people who say they ‘don’t want to know’, but as my one sister said, ‘the risk is there whether I know it or not’. As their sister, and as a mom – I can tell you that their bravery is a gift to me and my kids. If they (especially Sherry) had not been willing to be tested, the whole process would have come to a screeching halt, and it is very likely that one of my other sisters would have developed breast cancer.