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?

You'll need to provide more information before anyone can answer that.

Everyone had counselling before the upper branches of the tree so to speak were tested.

If it helps, it was found in one Aunt of 6 which led to the other siblings being tested and only one other had the gene. Out of all of the children of those two siblings, only one has the gene.

what did the affected individuals do? hysterectomy and mastectomy? did they find out before or after children?

I’ve got Lynch which is very similar. I have hysteroscopy and colonoscopy every year and (try to) forget about it. DS was PIGD IVF because of Lynch and is negative.

It was actually a male affected.

Very sadly we found out because my aunt was so unwell and she died.

Knowing BRCA ran in my family (sadly because a family member was diagnosed with a BRCA cancer and, at that point, science could only play snap with relative's DNA, it's moved on now) probably saved my life. I had to make life-changing decisions, but I don't regret them in the slightest because I've been spared from the very high risk for me of both BRCA-related cancers and then associated secondary cancers. Relative who was diagnosed is now disabled due to secondary cancer and has a risk of future secondaries too.

We all had counselling and tests.
Of us kids, only sis had the gene, she’s got no kids.
She has had a full hysterectomy with everything out and went on to HRT. Decided against mastectomy. She was in early
forties and wasn’t in the market to have children anyway. If she had been then she would have had children and then had it all out. She’ll probably have a mastectomy in a bit but she’s currently a newly wed and her DH loves her boobs!
Dad has regular checks, he’s had bowel cancer already but seems fine now
Aunt decided to do nothing, did get breast cancer which was cured but died of bowel cancer in the end.
”Hand grenade” seems slightly hysterical if you’ll forgive me for saying so. Try and stay calm and just take it step by step. It’s OK. It’s common and you’re safer knowing.

I feel like its a hand grenade going off in the family - no way of knowing right now who is affected, who might die ( who has died of this) who will get ill, who will need treatment, operations, mastectomies, hysterectomies, who won't be able to have children, everything

Also, for the younger ones, who will want to be in a relationship and plan to start a family with them?

fine, if I am overreacting please convince me of that. I've lost my mother, my grandmother and my aunt, I have lost my ovaries and breasts, I am likely going to lose my life, and having just found out why, my daughters and nieces stand to be next in the firing line. My son is talking of breaking off his engagement to be fair to his girl friend.

Please convince me its all fine and I am over reacting. There is nothing I want more than to be convinced of that.

My cousins were raised in care following the death of their mum. They are never going to recover from their experiences. One is in prison, another has addiction issues. Now we know what is behind the whole catastrophe. They need testing too, and their children, and who knows where this whole thing will end?

I don't think saying "hand grenade in the family tree" is an over reaction - but please, talk me down!

It’s a big shock at first but it’s not like a) you definitely would get cancer even with the mutation and b) there’s nothing they can do. They can put a plan in place for surgery which can reduce the risk substantially- it’s amazing the amount of lives preventative surgery must have saved. We have the brca gene mutation in our family. I don’t have it, one sister has it (she had breast cancer which is how she found it), brother doesn’t have it, other sister does have it. 3 cousins have it, 4 don’t. So the ones with kids are having/have had double mastectomies and reconstruction and are having ovaries removed too. The ones without kids are having the mastectomy first and then later on (late 30s ish) will have their ovaries removed after having children (if they do end up having children, some of them are only in their 20s). Why wouldn’t someone want to have children with them? That’s an odd thing to say. You can have IVF to ensure the gene doesn’t get passed on so although it’s not as straightforward, you’d have a healthy baby. Why is your son breaking off his engagement? Is that linked to his 50% chance of having the mutation?

yes, he has seen what the cancer has done to me, and now he knows its inherited its thrown a spanner in all their plans to settle down and start a family.

I’m sorry you have this bad news.

I think knowledge is power.

We have a genetic disorder in our family. If I had known before we had DC we could have used PIGD which is available on the NHS for some conditions, mine included. It doesn’t mean no children. We also have the option of preventive treatment which some have taken up and the others affected will do in future.

what is PIGD please?

@defective Pre implantation Genetic Diagnosis - IVF embryos are screened before Implantation for BRCA as 🤞not all will have it

Ok thank you. I will tell my children this exists

All the adults will be entitled to the genetic screening. I found it very sensitive and helpful.

They tell you to sort out your life insurance before having the tests.

I was shocked that only 50% who attend the first appointment go back for the 2nd one!!!

The stats are scary with it being 50:50 whether you have or not but knowledge is power and preventative treatment.

Sorry to hear that you have this in your family.

But good that you know and so can take some pre-emptive action. Early scans, awareness etc.

Following a few cases of BC and ovarian Cancer it was thought that we may carry the gene.
Some members (cousins) did not want to give NHS DNA research access to tissue sample data from older deceased members of the family (who had died of cancer)

This caused resentment and a silent rift.

In the event the data from the tissue samples was obtained. Fortunately no BRCA but they said ‘We think there is something there, not BRCA, but we don’t know what it is yet.’

My daughters now have access to earlier mammograms etc as do the other wings of the family - should they be on the ball and not buried their heads in the sand.

I went through testing as I had the sort of ovarian cancer that is often genetic, so did a whole load of research. Depending on whether you're BRCA 1 or 2 the cancer generally doesn't start until mid 30s or later, it may mean some women needing to have kids slightly earlier than they would have done if they are going to make the decision to remove ovaries et cetera but it's not generally a concern until then so time to have kids and there's the IVF to prevent it being carried further. My test came back negative, but my biggest worry had been about my DD. I've often been against genetic testing in the past, especially where there's not much you can do about whatever it is, but I was reassured that there are steps that can be taken, even if it's a shit situation to find yourself in. Sympathies, it's horrible, you are not only dealing with yourself, but the impact on so many others as well.

Its good to hear that people think there is things that can be done, because the impression I've had is that there is little that can be done - yes, hysterectomy and mastectomy, obviously, for anyone affected, but that doesn't prevent all the cancers likely, does it? or does it? I know it can prevent ovarian and breast cancer, but that is all.

I know it is too late for me, I am thinking of the younger generation, really, although some are nearly 30 already - but others only teens

In many ways, this news has been worse than hearing I am terminal, and worse than losing my Mum.

Op, the surgeries reduce the risk of the cancers associated with the gene. So once my sister has her mastectomy and ovaries removed, she has the same risk as me for breast cancer and lower for ovarian because she won’t have them anymore. My cousins will be having the PIGD to ensure the gene does not get inherited by the next generation. My older sister already has her children so they will all need to be tested as adults. But how lucky are we that we can do that and do something to remove/reduce the risk before it evens turns into anything. It’s not worth breaking up an engagement over- your son may or may not have the mutation and if he does he can ensure he doesn’t pass it on- he sounds like he’s catastrophising quite a lot. (I can’t spell, sorry!) The genetic counsellor can help answer his and any of your questions about it all

I’m really sorry to hear of your diagnosis though op.

thankyou for your input