Hand grenade in the family tree - BRCA gene defects- how did you cope?

[defective]

Trying to come to terms with this news, and what it means for the whole family. How did you cope? What did you do?

For those who have had tests, was this offered by the NHS and was it based on a direct relative having it? I'm asking because I know cousins have tested positive for this and taken various actions. But as my own mother never had any cancer diagnosed, I was told I can't be considered at close enough risk for testing.

My sister in law has had a mastectomy with full reconstruction a few years ago but has had to have further surgery due to scar tissue....and recently had a hysterectomy.

Her daughter is being tested in the next few weeks....

I suppose knowledge is power. If i were young I suppose having kids early and then mastectomy and overies removed before 40 anyway. I think the problem is not just that you get cancer, in that a lot of people get cancer and most are very treatable it is that the type of cancer you get tends to be more aggressive and treatment resistant.
Its really awful, I don't think you are over reacting at all

We have it in my family. We've all been tested. Of three female siblings, one had it, and she had passed it to one of her two children. That child had a hysterectomy at 40, after having her children who are both male and both negative.

Your son should get tested before making any decisions.

It has to be a direct relative such as parent or sibling - that’s what we were told. So my sister found out she had it when she had breast cancer. This made us eligible to be tested and my dad was found to be the carrier. His siblings could then be tested. Then those who were positive, their kids could be tested. The cousins couldn’t just get tested though at the same time as us- it had to follow this procedure. I think it’s a really expensive test

@SwedishEdith they track it through the family so would offer to test cousins parents, then the siblings of the person with it, then cousins. If the intervening person doesn't have the gene their descendants don't need testing. You don't need to have had cancer to have testing. Your mum should ask for a referral. But if she doesn't want or can't have a test, you could ask for genetics referral.

It's potentially handing a lifeline to people, as they'll get monitoring, preventative treatment, rapid diagnosis in a way you and others haven't been able to because you didn't know.

@Nineteendays and @dlago - thanks both. Should have said that my mum is now dead and I didn't find out about her niece having the gene until after my mum had died. My cousin and her mum (my mum's sister) both died of breast cancer but my aunty was in her 70s so I don't think she was tested. So there were no alarm bells while my mum was alive. Other relatives have also died of breast cancer (including a male cousin) but a) it's a very big family and b) I'm only aware of a few dying younger (in their 40s and 50s).

I understood that if you hadn't got cancer before a particular age (can't remember precisely which age now), you're chances of getting it became pretty much the same as the general population.

I carry the BRCA1 mutation, as do my sisters, mum, aunty, various cousins. We have all had/are planning mastectomies (you can see from my username!) and ovary removal and none of us, so far 🤞🏼 have ever developed any kind of cancer.

It's overwhelming and scary at but many of us see it as a good way to avoid dying young like the previous generation of women.

Please do DM me if you'd like more info- links to charities, documentaries etc. there are lots of good resources out there

@defective

When I was going through genetic screening I was devastated for my DC if I was positive.

It's easy post motherhood to do away with boobs, ovaries etc so much more painful that as they cusp adulthood they are faced with options and choices

50:50 odds are not hopefully ones when you have several DC.

@SwedishEdith the NICE guidelines were revised several years ago, it's much easier to qualify for genetic testing one I think they have worked out financially preventative treatment is cheaper than cancer treatment. Plus those who then are positive that wouldn't have DC because of it helps take the gene out the population.

Thanks @RandomMess, maybe I need to ask the GP again. Not a subject I really want to bring up again with my cousin to make sure I understand exactly the situation in their family though.

You can look up the NICE guidelines and see if you qualify for genetic testing.

If you only just found out about the BRCA gene, then all that bad stuff happened before you knew about the gene to explain why these things happened. I am not following how knowing about the gene makes anything worse. if anything, knowing about it makes it clearer what the protective actions could be (clearer than when nobody knew there was no risky gene)

Some of the young people didn't inherit it. some of them will die of something else first. Some of them won't want to know if they have it or not.

Don't we all carry at least one risky gene for ... something? I'll be amazed if not. Alcoholism & depression in my family.

@lljkk I feel that's a bit harsh.

The chances of inheriting the gene are 50:50, the chances of developing breast or ovarian cancer in your lifetime if you have inherited the gene are pretty much a certainty. It's feels like a death sentence regardless of preventive treatment and statistics for your DC, goes against everything as a parent that you've given them such a horrid gene.

We all live under a death sentence, death will come to us all.

Not everyone with the gene gets cancer. Lifestyle factors still influence the outcome.

I have no other risk factors, slim, healthy, marathon runner, non smoker, teetotal. My mum and her sister also had no other risk factors. Both were slim, healthy, active, non drinking, non smoking, etc

@SwedishEdith in your circumstances you should ask for a referral to genetics.

OP, I am sorry for what you have gone through and for what you're going through it's bloody awful and so unfair.

How old are you? I am not ready yet. I have teenagers. I want more time

If you have any Jewish heritage, on either side and are both male and female you are eligible for testing on the NHS. There is a programme in place.

https://nhsjewishbrcaprogramme.org.uk/

Defective NOTHING compares to what I felt waiting for my genetic testing, having a stroke and my DD having a stroke doesn't even compare bizarre as that may sound.

I'm sorry your prognosis is shit. I hope that your DC tests come back clear x

I was tested just after I recovered from BC 5 years ago, there was a query about BRAC 2 but the genetic testing needed to advance further to be more sure, they are restesting now and am awaiting for the results. I have 3 young DDs aged between 13 and 10 and feel physically sick that I may have passed this to one or more of them. My eldest DD has started to develop breasts and it makes me feel sick when I see them but I try to cover it up. I know exactly how you feel, like a hand granade that could go off at any time, much like a the BC recurring feels like too, it doesn’t fully go away.

I just rang the generics department at our largest hospital in a city about 20 miles for me and they fitted me in straight away and then rang them again recently and redoing the tests, no questions asked. All very loveky, they’d kept my original bloods from 5 years ago. I didn’t need to go through the GP or breast clinic.

Please note that having BRCA 1 or 2 genes increases the risk of prostate cancer so males in the family need regular PSA tests/ MRI scans.