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Personal Stories of Hereditary Cancers


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Alison’s Story

My BRCA journey  

My name is Alison. 

I am 53 years old. 

I have ovarian AND breast cancer. 

I am a BRCA1 gene mutation carrier…. 

As is my father, my brother and my daughter 

As are 1 in 40 Ashkenazi Jews! 

What does any Jewish Mother want?  

They want their children to be happy, healthy and find wonderful partners. They want to be there for their children and any grandchildren.  

So did I. 

BRCA gene mutations are very prevalent in the Jewish community. 

Amazingly, 1 in 40 Ashkenazi Jews are carriers, yet the national average is 1 in 300-400! 

As a carrier there is a 50:50 chance of passing it on to any children - male or female

A female BRCA mutation carrier has a 55-65% risk of developing breast cancer by the time she is 70 years old, and a 39% risk of developing ovarian cancer by the time she is 70 year old too.   

Men with certain BRCA mutations have a 35-40% risk of developing prostate cancer by the time they are 70 years old and have an increased risk of developing male breast cancer. There is also a risk for men of melanoma and pancreatic cancers. 

Facing this sudden diagnosis of both ovarian and breast cancer last July was hard enough at the age of 52 knowing of the months of chemo I would have to endure but then to discover that I was a BRCA1 mutation carrier brought with it even more devastation. 

I was totally ignorant. I had always believed that breast/ovarian cancer was inherited through one’s maternal side. I had no idea that I was at risk.  Who would ever suspect that my adorable, healthy, cancer free 89 year old father would be a carrier of this terrible gene mutation.  My amazing oncologist and medical team, of course, suspected that I was a BRCA carrier and once that was confirmed we were then able to test my father and my brother. 

Why my Father? His sister had died of breast cancer aged 52 and his mother died at 60, also of cancer  - I learnt that in fact she had had a double mastectomy.  There was no history of ovarian/breast on my maternal side. 

Inheriting BRCA1 is a 50:50 chance. My brother is my only sibling. Both he and my father came back positive ... a big blow. My brother was shocked.  He has two daughters of 18 and 20. My brother and other people like him have to make the decision of how, when and at what age to tell their children.  

My beautiful 24 year old daughter Gaby’s results came back positive. Another devastating blow. I was heartbroken.  

My daughter will have to do an “Angelina Jolie”.  

She has been advised to have the first risk reducing surgery - a double mastectomy - by the time she is 30.  

Female carriers should be made aware of important decisions that they need to make and they need to be monitored closely.  

Once their families are complete, from the age of approximately 35 upwards, carriers are advised to have their ovaries together with their fallopian tubes removed under a procedure called an oophorectomy.  
 
This is the link to my daughter’s blog - she has had such an amazing response with young girls like her carrying the gene mutation - http://ovarian.org.uk/news-and-campaigning/blog/gaby  

A carrier can also have a form of IVF called Preimplantation Genetic Diagnosis (PGD) where an embryo will be selected that is not carrying a genetic mutation, therefore it will not be passed onto the next generation.  How fantastic is that? My daughter will absolutely have her family using this method (which is also available on the NHS). Knowing that she will and can stop this gene mutation from continuing to plague our family is a great relief to us all.  

The risks are too high to ignore and she or anyone only has to look at me and see what I am going through with my relentless three weekly chemotherapy sessions which, admittedly, are keeping me alive. But how I wish I had known that I had the faulty gene. I would have absolutely elected to have the risk reducing surgery - a far easier option. 
 
No one would choose cancer! However, I am still able to spend precious and very special time with my wonderful and supportive husband Anthony, our children, my close family and my very special friends. I could not get through this without their unconditional love and support. They all know who they are and I am very grateful. 

Carrying a BRCA mutation hits families very hard but I take comfort from the knowledge that due to medical advances my daughter should be safe but it is also thanks to high profile people like Angelina Jolie, whose brave decision to publicise what she has gone through, that helps to create the world wide awareness of the consequences of having a BRCA gene mutation.  

Knowledge is power. If only I knew. 

 


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Rochelle’s Story

I found out in August 2015 that I have the BRCA 2 genetic mutation. This means that I have a high risk of breast and ovarian cancer. This is something that I inherited from my mum who had both BRCA 1 and BRCA 2 mutations.

My mum was always worried about breast cancer because her mum had had it. She went to the doctors but they told her that it was just like the lottery – someone points the finger and decides it’s you. This isn’t necessarily the case.

If the doctor had looked into my family history they would also have found out that two of my mum’s aunties had had breast or ovarian cancer.  They would also have known that my mum was eligible for genetic testing to see if these incidents of breast and ovarian cancer were genetic (BRCA mutation). She wasn’t tested for BRCA until after she was diagnosed with breast cancer. That breast cancer led to a secondary and in September 2015, that secondary took her from us within two weeks of diagnosis.

If someone had put the pieces together just a few years earlier and mum had been tested, it is possible that she may not have developed breast cancer and she may still be with us.

As for me, I am lucky.

My mum’s cancer may well have saved my life.

I know that I have the genetic mutation and I know this prior to developing any cancer. I have had the opportunity to be monitored and the choice to have preventative surgery that gives me a good chance of not developing breast or ovarian cancer in the future. Mum didn’t get this opportunity. I had a double mastectomy and reconstruction in April 2016 and plan to have my ovaries removed in the next few months. This will reduce my risk of breast cancer to a rate lower than that of the general population. Genetic testing may well have saved my life.