The BRCA 2 Gene – and other things you might not know

14 Dec

In my very first blog, almost a month ago on 17th November, I said “My mother was a BRCA 2 gene carrier and so am I”. How did I know I was a carrier and how did I know what BRCA 2 was? Come to think of it, how much of the medical world that we meet – or in my case contend with almost daily – do we really know about?

First – I’ll tell you how I found out I was a BRCA 2 carrier. Early last year, I finally made an appointment to see a gastroenterologist. I’d been suffering from mild dyspepsia and also from the “real men don’t get sick” syndrome. A quick check-up and, surprise surprise, the doctor asks me a whole bunch of questions regarding my family history – and is particularly interested when I tell him how many of my mother’s family had breast cancer. He suggests going for genetic counseling at Beilinson Hospital– and I make an appointment for sometime in May.

The genetic counseling session seemed to be almost a repeat of the questions the doctor asked me. Except this time there was the usual form-filling and I was asked to sketch a family tree highlighting the afflicted members in my family. I struggled with the statistical analysis. I was being lectured – and in my usual manner thought to myself: I’ll deal with genetic issues if and when the time comes. I gave a blood sample – and was told they’d let me know.

I asked a couple of “what if” questions – and was surprised that the response was to check my insurance cover. I persisted and got the same answer. I tried to rephrase my question in terms of pre-emptive medical action. Thankfully, I’m one of those who checks insurance policies regularly. I cannot imagine where I’d be today had I not had a policy for loss of earnings and insurance for drugs not granted by the Ministry of Health.

The results came – and I prove to be a carrier of the BRCA 2 gene of the mutation 6174delT.  I rush to my family doctor for an explanation of the mumbo-jumbo report – and he suggests that I have a mammogram – just like my wife and most other women have! I’ll spare you my embarrassment in the waiting room; knowing about BRCA 2 is far more important than my feelings at that moment.

The best thing I can do is refer you to an article on BRCA that Pam has just written. Here’s the link  http://esra-magazine.com/blog/post/knowledge-health.

Two things I’d like to make clear. Firstly, female carriers of the BRCA gene mutation have a dramatically increased chance of breast cancer – by up to 80%! Males increase their chance by about 6%, but also have increased chances of prostate and pancreatic cancer. The appropriate course of action for carriers is constant monitoring. In my case, I found out a bit too late. But at least I had some insurance cover. 

My second point, is indeed the question of insurance. Whether we like it or not, the financial aspects of being ill impact immediately. Life is full of so many risks. Adequate insurance is essential!  Be warned. In the meantime there are so many other administrative aspects that I’m trying to come to terms with – a flank of fighting cancer that cannot be ignored.

To end on a happy note, or, as they say in “The Life of Brian”,  ‘always look on the bright side’: carriers of the BRCA2 gene mutation have a better chance of responding well to chemotherapy.

 

 

,

Advertisements

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s

%d bloggers like this: