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BRCA2 and big decisions

(27 Posts)
Ladygaggia Thu 02-Nov-17 11:49:13

I have just found out that I have inherited BRCA2 gene.

I would really like to hear from people that have also been identified as having it and what decisions they made.

I'm early 40s, I have two kids and am due to be married next year.
I've no plans to have any more kids, so having my ovaries removed is a potential choice.

I'm seeing a genetic counsellor in a couple of weeks, but wanted to hear how it has affected real people.

Milkandcornflakes Sun 05-Nov-17 23:27:23

Hi ..i have the gene.i found out after being diagnosed with BC..i had an immediate double mastectomy.
That was hellish because I had an immediate reconstruction from the tissue on my stomach and have a hip to hip scar..very difficult recovery.breasts look fabulous though but have zero feeling in the skin etc and they don't feel like my own and I have lots of nerve pain and stinging sensations where everything is knotted together.. if I hadn't had cancer I would opt for frequent mammograms instead but I didn't have an option.ive also had my ovaries and fallopian tubes removed..quite a quick recovery if I'm honest
. Not much pain but it's thrown me into early menopause and I'm drenched in hot flushes and have awfull insomnia .I'm.43..i have to take a drug called letrozole which can cause bone pain but I'm.not sure if you would have to take it..i have a son who's 6 and has ASD and am single so it's been extremely difficult.whilst I appreciate everyone is different with pain tolerance etc I don't think I could do it again.i feel like ive aged 20years..also think about whatvsupport you will have.good luck.

wombatthewarrior Mon 06-Nov-17 08:17:15

Hi Ladygaggia, I don't have any personal experience of BRCA2, but wondered if you have read Emma Hannigan's book - All To Live For.

She was diagnosed with BRCA1 and the book follows her journey from diagnosis to her various surgeries.

She is an amazing woman and it's a really well written, articulate, and inspirational book!

Good luck with your own journey x

Ladygaggia Wed 08-Nov-17 14:01:24

Thank you both.
I'll definitely check out that book.

My biggest concerns are being plunged into an early menopause and the effect that might have on my body and mood. I have a wonderful partner and I don't want to lose my libido or become moody...Silly things to worry about really.

KingIrving Wed 08-Nov-17 20:05:10

I have a genetic syndrome called NF1 which belongs to the cancer-inducing syndromes family.We lack the tumour inhibitor gene and as a result can't stop abnormal growths, both benign or malignant.
Nf1 is right next to the BRCA1/2 gene on the same arm of the same chromosome 17.
Our big difference is that we have a quite dramatic skin manifestations and we are more generous when it comes to the type of cancer we are prone of getting and many are not surgically removable. We have less treatment options also as radiotherapy is to be avoided as we get cancer from it. For all these reasons, I spent a fair two years actively researching and reading on the genetics of cancer.

To prevent the skin neurofibromas expansion and cancer, I changed my diet at the beginning of the year following papers I had read on clinical trials going on in Canada for the BRCA 1 and 2 gene defect. This study is called LIBRE. You can have some details here
www.ncbi.nlm.nih.gov/pmc/articles/PMC4966818/ . If you expand your research from the PUBMED suggested articles you will see that many countries consider life-style intervention. If it worked for BRCA, why not try it for NF1?

I did some courses from the John Hopkins and Melbourne Uni on the biology of cancer and epigenetics of cancers and what I have taken from these is that the gene activation is dependent on the environment. Both courses are on Coursera for free. A Yale university course on Breast cancer is starting next week. I have already enrolled www.coursera.org/learn/breast-cancer-causes-prevention . Week 2 is on gene predisposition . When enrolling, just select Auditing the course and not receiving a certificate. This gives you access for free.

I am linking an italian study that came out this summer on diet intervention for NF1 www.mdpi.com/2072-6643/9/7/783/htm, In our case, our skin can flag if something works or not. A tumour is a tumour. It needs feeding and blood. Food can either favour or block abnormal cells proliferation.

Before taking drastic measures such as removing organs, I recommend you take six months to educate yourself on how cancer grows. Read the existing books, such as anti cancer a new way of life by Servan-schreiber, investigate the works of the head of Molecular lab in Canada Richard Beliveau www.richardbeliveau.org/en/cancer-prevention.html and from there change your diet and lifestyle. While you read, do all your check ups, exams, visit and listen to the experts. But it wouldn't harm you to do a couple of changes to your lifestyle while you do so.

I went extremely cautious and became a vegan. I eat my bodyweight (kidding, but somedays it feels like) in vegetables, berries and supplement with curcumin , and a couple more things. It is not so much about not eating certain foods - milk, ham , processed food...- but as eating enough polyphenols to make a difference. So not a doritos-oreos or 50 shades of beige vegan, but cauliflower is my middle name type. I don't eat what comes out of a (factory) plant but a plant.

When I was diagnosed, everyone told me to stay off the internet. I do not agree. I stay off blogs and sites that sell stuff, but I went on University websites, spent a lot of time at the State library and on pubmed. Nf1 is a big ignored dinosaur and my finding were later confirmed by the Italian study I linked. Information is key. Information on lifestyle but also on diagnostic. MRI is to be favoured to mammogram for example.

A defect in a gene gives us the predisposition, it is in our hands to put hurdles in the path of cancer.

There is a massive gap between current research and medical protocol. It takes years sometimes even a decade for a finding to be transformed into state-funded health protocol. One trial must be confirmed by several others and many of these are based on long observation times. When it come to genetic syndrome, it is even worse. Genes cannot be changed so wait for the problem and deal with it is the current attitude. I am not waiting for cancer to occur. I actively do my best to prevent it. The epigenetic says gene expression can be activated or silenced. I give it a try. Eating berries instead of ice-cream or cherry tomatoes instead of chips can only be beneficial.

UnbornMortificado Wed 08-Nov-17 20:09:46

My mam got tested for that gene (I have 3 sisters) when she had breast cancer 2 years ago.

Luckily she didn't have it. If she did and I'd inherited it, I would of had everything removed. I have two daughters I want to see grow up.

I appreciate making the choice is different to making it theoretically. I'm sorry the wait for my mams results was bad enough, I can't imagine what your going through flowers

RandomMess Wed 08-Nov-17 20:50:49

I have been tasted but was negative. I’m 45 and had decided that I would have mastectomy and ovary removal. Mainly because I’ve witnessed the affects of very low dose chemo drugs for arthritis- it’s not pretty!

Also there is no screening programme for ovarian cancer - they just haven’t found anything that effective yet. I also buried a good friend this year - she and her DC would have given anything to have had more time together - her youngest was 11. Her fight against breast cancer was brutal just over 2 years.

I’m think I’m peri menopausal A’s mood swings, periods, sex drive all over the place - losing my ovaries didn’t seem a big deal versus the ticking time bomb of ovarian cancer. I know the wait for elective mastectomy was a minimum of 12 months in our area due to the options and psychological impact.

Wish you well with your decision, what had you thought you’d do prior to your outcome appointment?

flowers

RandomMess Wed 08-Nov-17 20:55:19

I have 4 DDs and the thought of me testing positive was horrific for me because of what it meant potentially for them- surgery just seemed easy in comparison?

I also want to give you hope - my Mum is BRCA positive, dying of ovarian cancer, her sister died of breast cancer at 42 - both my brother and I are clear.

Just more flowersflowersflowersflowers cos it’s such a shitty position to be in.

KingIrving Thu 09-Nov-17 00:48:54

there is no screening programme for ovarian cancer offered by the NHS and this is because a PET scan is the most expensive exam of all, going from 1000 - 2000 pounds. Ct scan is also effective but should be avoided unless symptoms are advanced because of the very high level of radiation. PET scan is risk free, maybe an allergic reaction to the radioactive glucose, but nothing compared to CT.

Here is where the research clashes with the finances of the health system. On testing, cost and BRCA2 you can read here www.ncbi.nlm.nih.gov/pmc/articles/PMC5406158/.

The economics of the health system , the screening and cost is hugely complicated and is mainly based on statistic not on single patients benefit.

IF you can afford it, consider paying yourself for an annual PET scan and breast MRI.

And the financial aspect of medical trials is even worse. Researcher have to publish a certain amount of papers, they are constantly looking for funds, and pharma companies will fund pharmaceutical trials but not lifestyle one. And when it comes to research there is the parallel world of all the non-published studies.IF the results were not those hoped, such as a pill vs lifestyle, where lifestyle was as effective as the pill, that paper will end up in the bin. Because for a trial to be successful, you need the control group to perform worse.

What I am trying to say, is that there is a new school of thinking when it comes to bad genes that strongly support gene expression and/or activation based on environment and that fights unnecessary mutilation.

callow Thu 09-Nov-17 07:34:03

My mother had breast cancer and recently died from ovarian cancer. I must admit I have put my head in the sand about testing.

I did join a good website brcaumbrella.ning.com
Wishing you the best.

Ladygaggia Thu 09-Nov-17 10:31:33

Wow, thank you.

I have lots to look at - I have made some changes to my diet mainly due to wanting to look good in a wedding dress next year.
I will look at those links.

I am worried that my kids will have inherited it also.

I am more than happy to have the surgery, but won't be rushing into it. I guess it is hard, because I am in a relatively new relationship and I feel more concerned about how I will look, and how it will affect me sexually than it would if I was in a longer term relationship. I wouldn't have given a damn with my ExH - we'd given up on all that!

@callow I've applied to join that website, but no one has approved me

Ladygaggia Thu 09-Nov-17 10:34:43

Milkandcornflakes, thanks again for your story. It sounds like quite an exhausting journey.

I am glad your breasts look fabulous, even though they feel strange. I am worried about franken-boobs.

Apparently I should be able to get MRI as well as mammograms.

RandomMess Thu 09-Nov-17 13:50:36

I was offered MRI and mammograms alternate years.

They did discuss with me that there had been ovarian scanning research but that it hadn’t proved successful- things change so much during a single cycle alone it wasn’t picking up EARLY signs of ovarian cancer. Whereas breast programme is good/successful at doing so.

Part of my thinking with going ahead with mastectomy is that you would be more likely to get a better result preventatively than as part of a “rush” remove cancer process. That of course could be wishful thinking!

TooCoolForScool Thu 09-Nov-17 14:50:30

My mum has OC which is treatable but not curable. She’s OK touch wood at the moment so this is a positive

She is waiting for results of the BRCA gene test as if she has it then she will be offered a specific trial. Her consultant says it’s unlikely she does have it though as we have no history of breast cancer in the family whatsoever, my mum is the first in living memory with OC. But of course we still don’t know for certain yet

Anyway we wait for these results and of course I wonder what I would do and the answer seems obvious . My gut reaction is that for me, personally, I would have a mastectomy and ovary removal.. whatever it took basically. I couldn’t live with any other decision. I have children and it’s just what I would do.

It’s hard regardless. I’d rather be plunged into menopause and all that entails than do a watch and wait type thing

callow Thu 09-Nov-17 17:06:31

It did take a few weeks before Brca umbrella got back to me. I hope they get in touch soon.

KingIrving Thu 09-Nov-17 19:32:28

Have you ever heard of Metformin?

It is a very common anti diabetic drug used by hundreds of millions in the world and one of its side effect is to inhibit cancer. There are tons of studies on Metformin + cancer even as a preventive drug for BRCA carriers.
Here is one of the study for you
www.ncbi.nlm.nih.gov/pmc/articles/PMC4474476/

During your visit with the genetics counsellor, you might want to ask about all your options

Ladygaggia why did you get tested? What made you suspicious?

Ladygaggia Thu 09-Nov-17 21:27:02

My mum got bilateral ovarian cancer this year. She was very lucky and they caught it before it spread.
They tested her for the gene, even though there was no family history at all.

They think that it could have been carried on the male line and therefore been undetected until now.

When she got a positive result, I went to be tested.

KingIrving Thu 09-Nov-17 21:53:40

Oh wow. Must have been such a shock for everyone. I am glad your mother got caught on time. flowers

KingIrving Sat 25-Nov-17 02:03:56

Today, I came across these two videos which summarise several medical papers and you came to my mind.
nutritionfacts.org/video/brca-breast-cancer-genes-and-soy/

nutritionfacts.org/video/should-women-at-high-risk-for-breast-cancer-avoid-soy/

Bloomed Sat 25-Nov-17 02:15:10

Can I ask to be gene tested in the UK (even if privately)? I have a curious family history on one side (that's now come to light) which needs urgent investigation.

dontquit Sat 25-Nov-17 02:49:24

Hi, I have brca 1 gene. Found out this year. Mother has OC.
For brca 1 surgeries (bilateral mastectomy, ovary and tube removal) advised between age 35-40. With brca 2 they advise surgeries between 40-45.
However this also depends on family history so if there is a history of cancer at a younger age they recommend surgeries 10 years before earliest diagnosis.
Surveillance is an option some people choose. Surveillance for breast cancer is pretty good but of course this means if cancer found you will likely need chemo/ radium and then end up having to have bilateral mastectomy at that point ( reconstruction post radiotherapy does not always turn out the way people would like due to scar tissue).
Surveillance for ovarian cancer is known to be very poor and the disease is more often than not only detected at advanced stages.

Mastectomy is a pretty big op and long recovery.
Tubes and ovaries can be done by key hole surgery and usually as a day case procedure. Recovery from surgery is pretty quick. The downside as you mentioned is sudden menopause.
You will need to be referred to a Gynae oncologist to discuss options. My Gynae onc is happy to give me low dose hrt immediately after surgery and until I'm 50 as long as I don't have or have never had breast cancer. I think most Gynae's are in support of this now as there are huge side effects of early menopause. It can lead to osteoporosis and heart problems so maintaining hormone levels is important.
It's all very daunting at first.
Someone above wrote about a healthy diet and lifestyle and while I agree this is important it is not going to change the fault in our gene. Everyone has brca genes and these genes help kill off/attack tumors. Because of the fault in our genes we are not able to attack these. That's my understanding anyway.
The force website is good for info. Also there are several facebook groups (closed groups) where people share there stories/advice/pics etc. I found the groups both a huge support but also extremely daunting at first. Important to bear in mind that people are more likely to post when they have concerns and things have gone wrong than when things go according to plan.
Xx

eeanne Sat 25-Nov-17 02:51:30

Hi OP. My mother got tested because her sisters both developed BC in their 30s. She is BRCA2 positive and decided to get her ovaries removed - she was late 50s at the time.

I was tested and am not carrying the gene, but I considered my options during the genetic counseling. The advice I took was to finish my family (wanted one more child) by age 35 if possible and then get my ovaries removed. Apparently oopherectomy reduces the risk of breast cancer as well so was going to do that first and then consider mastectomy down the line.

dontquit Sat 25-Nov-17 03:20:01

I've read recently that they now don't feel that oophrectomy reduces risk of breast cancer so would be good to check this out with a genetic Counsellor for the most up to date research. I think it does reduce the risk of certain breast cancers but not triple negative breast cancers which is the cancer most common in brca carriers (again might be confused here!).
Also recent studies are showing that it's very likely that ovarian cancer is actually starting in the tubes so even though it's not conclusive yet most surgeons will recommend removing both tubes and ovaries.
My plan is to remove tubes after my next child leaving ovaries until I'm 40 (to delay menopause). Each surgery will be keyhole surgery and in and out the same day.

RandomMess Sat 25-Nov-17 09:03:35

@dontquit your post reflects what the genetics team I saw said earlier this year. Wishing you the best with your surgery in the future thanks

RandomMess Sat 25-Nov-17 09:06:29

@Bloomed if there is cancer in the family your GP should agree to refer you. I am not sure what the criteria is for the genetic team to carry out testing. They told me the fact my Mum had developed OC in her 70s and her sister died of BC in her early 40s was enough though.

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