If someone mentioned BRCA1 to you, would you know what they meant?

When Carla Atherton contacted me about it, I didn’t know what it was, but actually, this is so important that it’s something we should all be aware of. For Carla, 33, from Chester, it is something she is living with every day of her life.

First of all, it’s not an illness, so there are no symptoms of it. BRCA1 is actually a defect in genetic coding. The BRCA (which stands for BReast CAncer) gene protects us from cells that have the potential to turn cancerous.

So if you have a defect of the BRCA1 or 2 gene, it means you have no protection in your body from your cells that turn cancerous, something that affects around 1 in 800-1000 women on average in the UK.

So for Carla it means she has up to 87% chance of getting breast cancer, and up to 60% chance of getting ovarian cancer. The defect also increases the risks of other cancers such as colon and peritoneal. And as Carla has sadly discovered, these cancers are early onset; her aunt who was 28 when she got breast cancer, died at the age of 31.

Carla had these pictures taken of her before her surgery

She says: “I inherited the BRCA1 defect gene from my father. It can be passed down both maternally and paternally and there is a 50/50 chance that you can be passed it if your parent is a carrier.

“I first found out I had it on November 5 2014. My father’s sister and mother both passed away from breast cancer as young ages, so my fathers two remaining sisters have been monitored closely with the NHS. Until recently we hadn’t even known of the defect gene; it was my auntie who got tested first after the NHS eventually agreed to do so.

“Once the mutation coding was found in my auntie, the NHS had to test my dad who also was positive and then I was tested and the results turned out positive. It hit me like a ton of bricks as I never knew of any of this all my life up until my auntie contacted me in January last year to let me know the defect was in my family.”

The news meant Carla had to begin ‘surveillance’ and she had to be monitored every six months with MRI scans and mammograms for the breasts. This also means regular bloods checks and an ultrasound to trace for any abnormalities for ovarian cancer.

“I couldn’t live with surveillance, not with my family tree. On my dad’s side, my auntie had breast cancer at 28, my nan had it at 40 - both are now deceased. Then on my mum’s side who don’t have the gene, my mum survived breast cancer, my cousin had it but died this year of cervical cancer aged 36 and my nan had breast cancer,” said Carla.

“So for me there is no option. On August 14 this year I chose to have a bilateral preventative mastectomy (my breasts removed). The next step which I’ll be looking at next year, is what to do with my ovaries and what options I have as the BRCA1 can cause women to have ovarian cancer in their thirties.

“But for now, I am still recovering from my mastectomy. I am 100% sure I made the right decision and can only see this as a positive life choice. I have reduced my breast cancer risk to approximately 5%. This week I got the all clear which means that when they removed my breasts, the tissue sent for testing to make sure there were no cancerous cells in the breasts was clear which is great news.”

Now Carla is focusing on using her experience to reach out to women and raising awareness of this defect.

Carla is still smiling after having had both breasts removed

“I want women to make sure they have spoken to their doctors if they get cancer early; if there are two or more family members with breast cancer and/or ovarian cancer,” she explains. “But also that it can be passed down through the father, so you should be vigilant of the cancers on the male side of the family.

“Some women I’ve met had no signs of cancer but their mothers have had peritoneal cancer. This is also related to BRCA. It’s a matter of being vigilant and just asking the question. But also you have to be your own advocate, like my auntie who kept on pushing and asking for testing, eventually getting it many years later.

“As for me, I no longer have my own breasts and I also have to have a hysterectomy in my thirties, whether I manage to have children or not, which will throw me into early menopause. But I will deal with one battle at a time.

“I really wouldn’t be as strong as I am if it wasn’t for my BRCA support group BRCA Umbrella, a website support group for BRCA women in the UK admin run by Caroline Presho and Karen Cotton. I also wouldn’t be where I am now if it wasn’t for my mum, who has been my strength, even though she got diagnosed with cancer herself in February. This year has been very trying.”

Before her mastectomy Carla held a ‘bye bye boobie party’ and recently did a photoshoot to help raise BRCA awareness with Red Shoe, who aim to empower women and make them feel beautiful.

“I want to specifically mention Sarah Sadler at Red Shoe and Amanda Rigby Makeup as they really did make me feel empowered,” Carla said. “I want to show young women having to make this hard decision of a mastectomy that it’s not too bad. I’m waiting for my breasts to fully heal and then taking after pictures. I will then use these to show other women like me.

“I also write a blog to support and provide positivity to women with BRCA in the hope it will help their journey.”

To read Carla’s blog, visit https://www.facebook.com/MyBRCAJourney?fref=ts