Life with bowel cancer

charleyb

Genetic testing

So since my husbands diagnosis we didn`t know that any other family members had had cancer, and believed he was one of the only ones. Due to Charlies young age he has been put forward for genetic testing (12th Dec). On looking into his family, pretty much every member of his mothers family have had cancer, 4 generations and every single blood relative has had it, some in 90s and a couple younger with one at 40. Has anyone else had the genetic testing, and found a genetic link? :x::x:

Caraeliz24

Hi @charleyb I’ve had genetic testing and was found positive for a mutation that gives rise to Lynch Syndrome. The process was very straight forward - and my genetics team were helpful. If you have any question let me know!
It is definitely worth doing and if you do have a genetic cause then various screening options are made available to you.

charleyb

Thanks @Caraeliz24 was there a family history? There are definitely some lynch related cancers in hubbys family, pancreas, stomach etc... but then some i don`t think are related skin cancer, thyroid etc.
How long did it take for the results? and does that mean that others in the family can be tested (worried about my boys)

:x::x:

HopsiFAP

Hi @charleyb I think you know that I was genetically tested already but just to confirm that yes I was found to have FAP. The blood test results took about a month to 6 weeks to come back. After that it was relatively easy for my Dad, sister and brother to get tested too. Their results came back as clear (fortunately in our case) pretty quickly as they just compared them to mine. My mum died of melanoma a long time ago.. but completely unrelated to my mutation so it looks like I’m the first to have the mutation in my family. I don’t have kids but I believe if I did then once the child is a certain age they too can be tested because they would have a 50% chance of having the gene too.

I realise it’s a really anxious time for you guys. Sending you lots of love as always :x::x::x::x:

charleyb

Thanks @HopsiFAP its so frustrating that until now no one thought oh wow every one had cancer maybe there is a link, i mean there may not be but the fact that every blood relative has had a form is pretty strong evidence. I`m not saying it would of stopped Charlie getting stage 4, but it would of been handy to have on his medical history. Anyway like he says at least the boys will be screened!
Hope you are feeling better, sending you lots of love :x::x::x::x:

HopsiFAP

@charleyb Exactly! I feel frustrated for you. We need to get this information out there. I read for too much about this missing link in care. It’s so important that people know about possible links with family members genetics and have access to testing prior to diagnosis.
I am thank you. Back on Tuesday for results of biopsy.. I know the PET was clear though so that’s good news. I think it all got escalated when I was in for my dehydration. Katy and Mr Rasheed not impressed that I was told it was cancer without definite knowledge. I think the upper GI dept could well recommend liver resection anyway. We will see. Also seeing Mr Rasheed on Wednesday so I can discuss it all with him.
I hope you guys have a good weekend. How is recovery going? :x::x::x:

charleyb

Oh wow so happy for you that the pet was clear!! amazing ! let me know what the results are for tuesday.
We just spoke to Katy yesterday actually, the aneasthetist wants another week before bowel resection, so its now been moved to 13th January, he needs a fitness test before. We have scans all of next week, as not had one since the radio, and they want to check lungs again.
I feel like Charlies family have just buried their heads in the sand, using the fact that some died of cancer in old age that there is nothing wrong, but every single blood relative?? thats too much evidence that there must be a genetic link, if we had known maybe Charlie could of been screened, i don`t know, just feel very sad by it all. :x::x::x:

HopsiFAP

@charleyb Thank you. I know it’s a relief.
Charlie will sail through the fitness test. I had to do it for the Whipple’s. Peddling on a stationary bike for 15 mins or so whilst they measure his blood pressure etc.
Good that you have a date for bowel resection although moved back a bit. I think anaethetist is Mr Oliver ? He is a nice chap too.
Yeah I can totally understand you feeling that way.
Big hugs :x::x::x:

Caraeliz24

@charleyb sorry for the delay in replying. My father had bowel cancer in his forties but we can't confirm if he was lynch or not. I was referred due to biopsy on my tumour indicating as a possibility. It took quite a while for the results, a few months I would say. Yes if you are found positive they go through the family and recommend who should be referred for testing and potential screening. The geneticist is very helpful with that and provide letters etc to help. For example my mum was testing to rule out a genetic variant on that side of the family.

charleyb

So to update on the genetic testing, they have ruled out lynch syndrome, and FAP. Which is amazing news, however does not explain the fact that all the maternal side for 4 generations have had cancer of some sorts. They will keep Charlies blood on file and when new genes come up will test against it. It does mean my little boys are at lower risk, and therefore will not need early screening, however will be offered a colonoscopy in 30s as Charlie got this under 40 :x::x:

sophia

Hiya. I def think there is more to genetic links than science will allow doctors to determine at present. Both my grandparents on my dads side died of bowel cancer and whilst I have been told it’s unrelated I just can’t see how it is. Needless to say I was very firm in ensuring the docs were quick to get my brother a colonoscopy.

sophia

I should say thankfully it looks like he is fine but I have made him promise me he will get regular checks.

charleyb

@sophia my husbands mums side of family have all had cancer, bowel, stomach and pancreatic, mostly in 80s granted but now two in 40s. I believe there must a genetic link, however i am very glad lynch has been ruled our and FAP. Good for you insisting your brother had a colonoscopy, all Charlies immediate family have had one and in process of one, and i will be insuring my little boys have one in 30s. Sorry you had to join us here, hope your treatment is going ok so far :x::x:

HopsiFAP

@charleyb So glad no lynch or FAP in the gene test Hun :x::x:

charleyb
Quote from @HopsiFAP:
@charleyb So glad no lynch or FAP in the gene test Hun

I`m so glad too!!! But i still can not believe that genetics are not at play in some way, but the good news is they keep it all on file and keep testing when more genes are found. how are you? :x::x::x:

HopsiFAP

@charleyb yes that is good. I’m doing well thanks. Looking forward to a weekend away in Dublin. You all good? :x::x:

charleyb

@HopsiFAP ooo brilliant i love Dublin! have an amazing time. yes we are good thanks, CEA sticking to 1 and its onto cycle 9 next week already! Charlie is back to work now, and even got back to the gym today! He braved the pool last weekend, scars and bag and all! My little boys loved it! :x::x:

HopsiFAP

@charleyb Thank you. Wow that’s gone so quickly. He’s doing so well. That’s amazing he went swimming too. What a man. I had a bra fitting the other day so the lady saw my bags and she was so cute. She was like you’d never have known! Such a positive reaction :x::x::x:

kitti

I have an initial appointment this month, im 39 and i lost a cousin to lung cancer at 44 a few years back so thought it was worthwhile being tested. :x:

charleyb

It’s definitely worth getting tested @kitti so you and family know what screening is needed. My hubbys familt is riddled with cancer , every member of maternal side so I’m shocked it’s not genetic , but very thankful for my babies :x::x: