A Little Faulty Gene Update!
It’s been some time since I put finger tips to keyboard and a wee bit rusty, so please bare with me if clunky or just plain rubbish! But tentatively back on the horse and feeling my way around this blogging lark once again. My first post back in the saddle really had to be an update on my breast cancer story as I dipped out fairly early to concentrate on getting through the treatment. Not going to bore you with tales of vomiting through chemo and losing my hair for the 2nd time (darn harder 2nd time around!) but a little insight into the reason behind the twice bitten… an inherited faulty “BRACA2” gene.
Both my breast cancers have been Grade 3 Triple Negative which basically means it’s a busy little sod that replicates quickly, more likely to spread and is non hormone receptive. Breast cancer can be either hormone receptor-positive or hormone receptor-negative. In a receptor positive cancer the hormones estrogen and progesterone attach to these receptors which then fuels the cancer growth. A hormone positive cancer can be treated with hormone therapy drugs that lower estrogen levels or block estrogen receptors and my understanding makes it a little easier to tackle.
But mine being receptor- negative and bilateral (both breasts) set alarm bells with my oncologist. Some family probing and bingo… My paternal Grandmother had breast cancer in her early forties. All these factors combined pointed to a genetic issue. Cutting a protracted tale short (the waffle!) I was genetically tested and proved positive for the faulty BRACA 2 gene…
So, What is the BRACA 2 Gene?:
VERY simply explained: We all have the BRACA1 & BRACA2 gene which act as tumor suppressors. Producing tumor suppressing proteins to repair damaged DNA and helping to prevent cells from growing and dividing too rapidly or in an uncontrolled way, basically fixing a fault before it develops into cancer – One of the natural beautiful things our bodies are doing without us even knowing, beavering away and solving problems!
I’ve a fault in my BRACA2 gene which simply means it doesn’t always function as it’s designed to and in-fact can make things worse whilst trying to do its job! But the fault doesn’t absolutely result in developing cancer, just increases the chances. I’m convinced that environmental factors also influence those chances, such as diet and stress. I went through quite a stressful period a few years back with setting up a business and the financial strain involved must have raised my cortisol levels (stress hormone) sky-high. It’s well documented how the body struggles whilst in a state of high anxiety, so a body in stress mode and a fixer gene not firing on all cylinders was my recipe for disaster! The positive is I now know I’ve a fault and subsequently addressed my life-style. Combating stress through Kundalini yoga and mediation (which has changed my life but that’s a whole other post!). My diet’s super healthy, eating pretty much a plant-based diet and mindful to stay mentally and physically strong… please know I’m no angel and fall of the wagon frequently!
Difference between BRACA1 & BRACA2
BRACA1 & BRAC2 differ in the % of increased chances of developing certain cancers with each genders.
BRACA1 presents a lower risk rate for men but higher risk rate for women in developing breast cancer and ovarian cancer.
BRACA2 presents a lower risk rate of developing breast and ovarian cancer in women but higher in men and also increases prostate cancer chances.
I inherited my fault via my father, who inherited from his mother. At 75 he’s fit as a fiddle, had NO health issues which demonstrates it’s not a forgone conclusion you will develop cancer with a mutation in the BRACA gene… lottery!
There’s 50% chance of passing the problem to my children and being a Mum of two boys I’d obvious hoped if I had the fault it’d be BRACA1 (checkout the risk table). Unfortunately mine’s BRACA2 so my boys are currently undergoing tests.
But if they prove positive (50/50), unlike myself at least they’ll be prepared, be vigilant and undergo regular screening.
Prostate cancer is fairly easy to detect and treat. But of course they’ll have the concern of passing it down the line to their children and so it goes on!
I had my genetic testing through my private health cover – I’m fortunate to receive this with my job but my boys were both being tested under Oxford NHS Screening Clinic. If you have concerns the first stop would be your GP or failing that then search for the genetic screening clinic in you area. Once your family history’s been looked at it and you’re deemed high risk it’s a simple blood test.
Celebrities with the faulty BRACA Gene:
One in eight women will develop breast cancer in a life-time but only 3% are caused by a faulty gene, so rare. But awareness has been raised by celebrities such as Angelina Jolie, who underwent a risk reducing double mastectomy and had her ovaries removed after discovering she had a faulty BRACA1 gene. Mother and daughter Sharon and Kelly Osbourne also have the faulty gene.
Michelle Heaton has the same BRACA2 fault as myself, she hadn’t developed breast cancer but underwent preventive surgery removing her breasts and ovaries. There’s a great YouTube videos of Michelle talking about her journey with Lorraine Kelly which you can checkout here: Michelle Heaton Interview
So, how’s the future looking? Now I’m aware a freaky deaky gene is responsible for my breast cancers and I’ve increased chance of developing ovarian cancer I can put preventative measures in-place… Stable door and bolting horse springs to mind!! If only I’d investigated my family history sooner I may have avoided this latest episode, but hindsight a wonderful thing and I didn’t. I recently underwent a double mastectomy and reconstruction which I won’t go into the detail of, I’ll save that for another post or this will be super long and I’ll lose your interest! But I will say I’m currently sporting a couple of skin expanding implants (which look surprisingly good!). I’ve also met with an amazing female gyne consultant to discuss removing the ovaries and that’s moving along… Slowly being rebuilt and hopeful for a cancer free future.
My next blog post will be on the injustice of the accessibility of preventive drugs, namely “Bisphosphonates” A drug that has been through clinical trials and proved to have positive benefits for reducing the recurrence of breast cancer in the bones, a primary site for secondaries. It’s CRAZY it’s not widely available on the NHS, this drug SAVES lives but because of a loophole regarding the licensing it not routinely prescribed. I’m having to self fund privately which is totally wrong, this should be available to all women and not an address or wealth lottery… Right, leaving it there and will continue my reasoned rant in the next post!
Thank you for listening, you’re amazing and I’m blessed.
Ps.. The photo of me looking wonderfully bald is the work of the most fabulous female photographer Sharron Goodyear, who specialises in capturing inner beauty. I was privileged to have had the most AWESOME day with her. I’m going dedicate a full post to her work and the experience I had, so special.. Watch this space!