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Rare gene mutations - Julie's genetic testing journey

12 April 2021


After undergoing genetic testing, Julie discovered that she had a rare genetic mutation called RAD51D, which is linked to both breast and ovarian cancer. Equipped with this knowledge, Julie shares her story in the hope that it will help other women with rare genetic mutations.

Having both breast and ovarian cancer, my mum’s oncologist suggested having a genetic test, which showed her to carry the gene mutation RAD51D. We’d never even heard of it! We were told not a lot is known about this gene as it's a fairly new discovery and still being investigated. However, they did confirm the faulty gene gives you an increased risk of developing ovarian cancer above population risk.

After speaking with a genetic counsellor who confirmed the risk of having this faulty gene was one in two, I decided to have the blood test and received my diagnosis via letter. During the wait, I was ok. I kept telling myself whatever the results I’ll be ok. 

I opened the letter with my older sister Audrey by my side. She had received her letter confirming she was ok and hadn’t inherited the mutation. My younger sister Karen was also ok and tested negative, thank God.  

The letter confirmed I had the mutation. I fell apart. All I could think about was my eight-year-old daughter Hannah. I was absolutely terrified. Especially as they didn’t know as much about this genetic mutation. Would I end up like mum? Did my daughter have it? I’m only 42.


The letter told me I was eligible for risk reducing removal of the ovaries and fallopian tubes, plus annual mammograms until age 50, where they’ll then decide if I need additional breast screening.

I was already suffering from bad PCOS (polycystic ovary syndrome), so the genetic counsellor wrote to my health board confirming my diagnosis of the genetic mutation, PCOS, and my high level of anxiety - which was through the roof. I couldn’t concentrate at work, I kept thinking of all the horrible treatment mum had been through and was crippled with fear.

I got an appointment to see a gynaecologist who told me she recommended total hysterectomy and bilateral salpingo-oophorectomy, which was removal of my womb, ovaries, Fallopian tubes and cervix too. She didn’t want to take any chances, so suggested taking the lot due to my PCOS problems as well. 

They managed to carry out the surgery out via laparoscopy (key hole). I felt a mixture of emotions... relieved to have the operation over with, but sad to lose my womb. I can only describe the feeling as mourning. 

As for my daughter, I’ll need to tell her when she’s older and the time is right. I pray daily she doesn’t have it. My Christian faith has got me through a lot of this, as well as my amazing family and friends.

"My poor mum was devastated for me. She initially blamed herself. This isn’t her fault and neither is it mine if my daughter has it."


I’ve decided to look at it as a gift. Through my poor mum going through all this, I’ve been given knowledge, and knowledge is power! I now have the chance to take control, before it takes control of me. I just pray that more research is done on this gene mutation. I’ve struggled to find any help or stories of others who have this mutation, therefore found this whole journey quite lonesome.  

But I now rest in the knowledge that I’ve done everything I can to reduce my risk of ovarian cancer. That threat has been taken away from me thanks to my amazing mum. If I ever get breast cancer, at least it should be caught early due to the annual mammograms. Thank you for this gift of knowledge, you just might have saved my life.

To find out more about rare genetic mutations, including RAD51D, click here.