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Rachel: Reflecting on my BRCA diagnosis eight years on

29 September 2020

Rachel Firmin

Rachel discovered she carried a BRCA2 gene mutation after she lost her mum to breast cancer and pushed for genetic testing. She reflects on her BRCA diagnosis and the importance of genetic testing within the Jewish community.

You can read where Rachel's story with BRCA began here.  

It’s a few years on from writing up my story for OCA, and I wanted to write a quick update on how I feel about genetic testing. Simply, it’s safe to say that BRCA testing is the best thing I’ve done to protect my family. 

I so wish that my mum could have had that choice- she’d have taken it in a heartbeat. 

Since I wrote my story, one of my family members has also tested positive for the faulty BRCA gene, and is in the hands of a great medical team who have reassured them of the screening and risk-reducing options they can use.

My plans around the ovarian cancer risk haven’t changed much - there’s no reliable screening available and my plan is to have my ovaries removed by the time I’m 45.

I know in my heart that if she’d have known about her BRCA mutation, my mum would still be here

Rachel Firmin

What I’ve come to realise is really shocking is that so many people in the Jewish community, don’t realise that we are 10 times as likely to carry one of these faulty genes. In our family we didn’t realise the significance of this to our cancer risk until it was too late. It’s so important that we change this - if our family had known about this before Mum had cancer, our whole story would have been different. I know in my heart that if she’d have known about her BRCA mutation, my mum would still be here. Instead, she missed out on being part of my children’s lives, and I’ve missed out on having my mum around. 

I have friends who have delayed BRCA testing because they’re worried about the results, only to have family members then be diagnosed with cancer. My message is simple- protect yourself, protect your family, find out your risk and you can prevent cancer. We have this fantastic technology to give us this knowledge - use it. 

28th September-5th October 2020 was OCA's first Hereditary Cancer Awareness Week - a week dedicated to raising awareness of the genetic conditions that increase a person's risk of cancer and empowering the families affected by them. Click here to find out more.