Liz Driver: "The thing that upsets me the most is the general lack of interest in boys having the gene mutation."

Liz, a 48 year old married mum of two wonderful young men describes her experience of finding out she carries a BRCA2 gene mutation.

Looking back over our family tree, we can now see where BRCA2 gene mutation has passed down through our family for generations as my Grandad Ernest sadly passed away at 58 of pancreatic cancer.

My grandparents had seven children and we now believe 4 of them inherited the gene mutation: my three aunties and my mum Margaret (though only 2 have had confirmed tests.)

My Aunty Dawnya died of ovarian cancer at 48 and my Aunty Angela died at 48 of breast cancer, both leaving young families.  At this point we were not aware of BRCA1/2, or that breast and ovarian cancer can be connected.

A few years later my mum was diagnosed with breast cancer following a routine mammogram. We were very lucky as this was caught in the early stages and following a lumpectomy and radiotherapy mum was given the all clear- we were all ecstatic.  We decided to celebrate with a family holiday, my son's first holiday abroad.

Unfortunately our happiness was short lived as a couple of years later Mum was diagnosed with ovarian cancer which had already spread to the cervix.  Mum had her ovaries removed and a total abdominal hysterectomy. Her surgeon was wonderful, and following chemotherapy Mum was given the all clear.

It was at this stage that Mum was advised to have genetic testing and following a simple blood test, was confirmed as positive for the BRCA2 gene mutation.

Two of my aunties and I had our blood taken for genetic testing, and my Aunty Una and I were both positive.  We were given the options of wait and see, annual MRI scans, double mastectomy and reconstruction and were advised to have our ovaries removed too.

My mum decided to have breast surgery but it did not go to plan as she got a haematoma and the implants had to be removed.  As always Mum took this in her stride: “it is what it is” (so that’s where my eldest son gets this from!).

In December 2013 Mum felt pain in the back of her neck following a slip whilst Christmas shopping, she mentioned this at her follow up oncology appointment with a registrar just before Christmas and was told it was probably whiplash.  She carried on but it was noticeable that she was struggling to walk. Despite numerous trips to her GP and her previous cancers, she was only given pain meds for arthritis in her hip, back and neck.

Whilst away in Torquay for my Dad's 70th Birthday in March, we ended up going to A&E as her pain was unbearable; Mum was given an X-ray and again, despite giving her cancer history and BRCA2 diagnosis was told she didn’t have a fracture.

A few weeks later Mum had another X-ray at her local hospital and was referred to physiotherapy.  She had gone from a woman who could go on long walks with the dogs to a woman who had to be helped from the room to the hallway to use the commode. She was only 67.  The physio said he needed to check the X-rays as this was ringing alarm bells with him. Thank goodness someone was listening to us.  He asked the radiology department to ‘blow up’ the images and it was then noted that she had extensive bone cancer in her pelvis and this was going up her spine. An MRI also showed a huge tumour in her neck.  

We saw a wonderful Consultant Oncologist who organised radiotherapy to the neck tumour that day.

Mum spent the next 6 months in and out of hospital and the cancer metastasised to her liver, she had numerous pleural effusions and during chemotherapy in September she got e-coli which almost killed her.  It was then decided that she could not have further chemotherapy.

On the 5th December 2014 I met Mum and Dad outside the local hospital for a routine oncology appointment. Mum needed an ultrasound scan to see if they could put a stent in her liver.  Unfortunately her liver was full of small cancers and a stent would not work.  We were then told the words no one wants to hear. 'There is nothing more we can do, we just need to make you comfortable'.  My Mum said 'let's have the best Christmas ever' and the oncologist gave her a sad look.  We knew at that moment we would not have her with us for Christmas.

Despite the hospital’s, Mum’s and our best efforts, Mum sadly lost her battle on 12/12/14, my brothers birthday.  She left a massive void in our lives and hearts, she was such a brave and beautiful woman – no one could fill those shoes.  In one swoop I had lost my Mum and my best friend, we did everything together, life would never be the same again.  I still miss her every day.

In terms of my health, I had my ovaries and total abdominal hysterectomy (due to previous abnormal smears) at 39. The menopause is not much fun; however I am at the other side now.  I just need to learn how to sleep again.  At the time of my operation we were told we could not have HRT – but we now know you can do so safely, so please grab it with both hands!  

I had my first breast surgery at 40. I opted for the implants as this is a less invasive option.  As Mum’s breast surgery had failed the consultant decided to use expanders first and swap to implants later, however the second surgery had to be pulled forward as I managed to pop one! I don’t ever remember being told that you would lose the feeling in your breasts, maybe I should have worked this out for myself, but I must admit it came as a bit of a shock, anyway I’m not complaining as this operation has significantly reduced my chances of breast cancer.

My two boys had their blood test at the age of 19 and we were gutted to find out that both of them have inherited the gene mutation. The thing that upsets me the most is the general lack of interest in boys having the gene mutation.  They were informed they are a carrier, their children have a 50/50 chance of inheriting the faulty gene, they have a higher risk of getting breast and pancreatic cancer and to make a mental note to speak to a GP for annual prostate checks from around 40. That’s it. We need to do more for men with BRCA mutations.

So I suppose this is one of the reasons why I feel I need to do more, protect my sons, raise awareness, and promote the importance of supporting both men and women who carry this gene mutation.

Learn more about genetic mutations and the genetic testing process here.