Mary was diagnosed with breast and ovarian cancer before she found out that she carried a genetic mutation which put her at a higher risk for both. Now she reflects on how this discovery affected her family.
I first was diagnosed with breast cancer in 2007 aged 55. I was devastated as my daughter was getting married that year. I classed myself healthy, being an active person who did not smoke and very rarely drank alcohol. I was also told that there was no connection between mine and my sister’s pancreatic cancer, who had died at 34, and that I was just unlucky. I asked to have genetic testing just to be sure, and was told that I didn't have enough family history with cancer to get this testing done.
Fast forward to 2019 and I had started to put a bit of weight around my stomach, being a bit more tired than usual, and needing to wee more often. I was never overweight and had kept in reasonable health, so I assumed it was just a sign of getting older. I was also having yearly blood checks since my breast cancer diagnosis, so I felt assured that I was ok.
I then started noticing pains in my abdomen. My doctor put me on antibiotics, but two weeks later I began to have a severe pain in my back and could hardly walk. I went back to my GP and she took bloods, the next day she called to say that my CA125 blood test had came back very high. I had never heard of a CA125!
She very promptly ordered me an ultra-scan which showed I had fluid in my abdomen. My GP then admitted me to hospital where I received the results of my scan, which confirmed I had stage 3 ovarian cancer.
I was then assigned to an oncologist for my treatment who immediately wanted me to get genetic testing as she thought my two cancers were related.
I was told that I had a RAD51D genetic mutation, which I had never heard of. I was asked to attend the genetic clinic, which I did with my three daughters so they could get tested too. One came back as also having the mutation.
"I was again devastated, and blamed myself for giving it to my daughter. I knew the consequences that lay ahead for her."Mary
It was decided on seeing an oncologist, that she should get a full hysterectomy.
When my only living sibling was tested, he discovered that he also carried the genetic mutation, so his daughters were tested too. One came back as a carrier. While waiting to see if she could have preventative hysterectomy, she had her mammogram, and sadly it showed that she also had aggressive breast cancer. She was only 46 so would not have been entitled to mammograms for a few years.
My niece is grateful that I got this genetic testing done, and insisted about getting the mammograms, God knows what would have happened had she waited until she was entitled to get them. My daughter is obviously now worried about the risk of breast cancer, but overall she is glad we found out as it enabled her to take preventative measures.
To find out more information about genetic risks, click here.