Forum Discussion
CHEK2... my genetic plot thickens?
Today I went to have genetic testing for the CHEK2 gene mutation.
Simply put the CHEK2 gene regulates cell division. If it's mutated the cells go on dividing and, well, cancer. It's also linked to increased risk of prostate, kidney, colon, thyroid, lung, some brain cancers and osteosarcoma. With breast, it's indicative of an increased risk in the moderate range if no first or second degree relative has it, if both have, as in my case, it's an increase in risk of 44%.
Well aren't I glad I've had a bilateral mastectomy...
And interestingly it has a direct correlation on the effectiveness of some of the breast cancer chemotherapy drugs. If I do have the CHEK2 mutation, I had the right chemo. I checked. Can you imagine how I'd feel if the chemo I'd had was the wrong one?? Holy f**k...
So my remaining sister is trying to decide what to do with her breasts. As the only woman in two generations not to have breast cancer, this is of course a major consideration.
She found her way to a private clinic and had a genomic test and didn't have the CHEK2 mutation. My mother had the same test and did have it. It's quite a rare mutation. My deceased sister didn't do this test, so I'm the last piece in this jigsaw puzzle. If I do have it, my sister is somewhat more in the clear than if I didn't.
The genetic counsellor today said that he'd be very surprised if I didn't have it. He's also fairly convinced that my deceased sister had it based on some previous health issues.
It's a spit test. I had to fill a vial with saliva, and now it will wing its way to San Francisco. Faster and cheaper than doing it at Peter Mac (sad). I'll find out in early November.
The geneticist said that it would have combined with other unknown genetic factors to cause my BC, something that accords with Peter Mac's assessment of a polygenic cause earlier this year.
If I do have it I'm uninsurable (for life insurance), but that ship has sailed anyway. As my kids reach adulthood they'll have to think very carefully about how to proceed.
Along with the CHEK2 test, he's testing a large number of other genes (61 in total). I thought about it when he asked me if I wanted to do the full panel. In the end I decided that if I'm in for a penny I may as well be in for the pound. If I can catch some other health drama early and/or head it off at the pass, I'd like to. Knowledge is power etc.
If I do have it, well I suppose I'll have to have a good chat with my oncologist about how to screen, or not, what precautions I have to take etc. I don't suppose it'd qualify me for a subsidised MRI. That'd be too much to hope for...
This (of course...) has been very stressful. It's probably contributed to my high anxiety week. As I was finishing the ExMed workout today my sister rang to change a complicated arrangement, it got mildly contentious and she hung up on me. Which I hate and, of course, burst into tears. FFS I'm a 52yo woman! Not some angst ridden teenager with pmt! I just can't cope with the slightest derailment at the moment. I simply don't recognise myself. I'm embarrassed writing it here yet again. I won't anymore. Just presume I'm weeping on a regular basis...
And now I'm consoling my still wet eyed self with a café lunch and there's a revolting couple refusing to control their toddlers who are literally screaming, running around and banging on the windows. When my kids were that age if they behaved like that they were packed into the pram and taken home. I only had to do it once with each kid. They never did it again because I don't do empty threats.
Hurrumph. I am grumpy as f**k.
Simply put the CHEK2 gene regulates cell division. If it's mutated the cells go on dividing and, well, cancer. It's also linked to increased risk of prostate, kidney, colon, thyroid, lung, some brain cancers and osteosarcoma. With breast, it's indicative of an increased risk in the moderate range if no first or second degree relative has it, if both have, as in my case, it's an increase in risk of 44%.
Well aren't I glad I've had a bilateral mastectomy...
And interestingly it has a direct correlation on the effectiveness of some of the breast cancer chemotherapy drugs. If I do have the CHEK2 mutation, I had the right chemo. I checked. Can you imagine how I'd feel if the chemo I'd had was the wrong one?? Holy f**k...
So my remaining sister is trying to decide what to do with her breasts. As the only woman in two generations not to have breast cancer, this is of course a major consideration.
She found her way to a private clinic and had a genomic test and didn't have the CHEK2 mutation. My mother had the same test and did have it. It's quite a rare mutation. My deceased sister didn't do this test, so I'm the last piece in this jigsaw puzzle. If I do have it, my sister is somewhat more in the clear than if I didn't.
The genetic counsellor today said that he'd be very surprised if I didn't have it. He's also fairly convinced that my deceased sister had it based on some previous health issues.
It's a spit test. I had to fill a vial with saliva, and now it will wing its way to San Francisco. Faster and cheaper than doing it at Peter Mac (sad). I'll find out in early November.
The geneticist said that it would have combined with other unknown genetic factors to cause my BC, something that accords with Peter Mac's assessment of a polygenic cause earlier this year.
If I do have it I'm uninsurable (for life insurance), but that ship has sailed anyway. As my kids reach adulthood they'll have to think very carefully about how to proceed.
Along with the CHEK2 test, he's testing a large number of other genes (61 in total). I thought about it when he asked me if I wanted to do the full panel. In the end I decided that if I'm in for a penny I may as well be in for the pound. If I can catch some other health drama early and/or head it off at the pass, I'd like to. Knowledge is power etc.
If I do have it, well I suppose I'll have to have a good chat with my oncologist about how to screen, or not, what precautions I have to take etc. I don't suppose it'd qualify me for a subsidised MRI. That'd be too much to hope for...
This (of course...) has been very stressful. It's probably contributed to my high anxiety week. As I was finishing the ExMed workout today my sister rang to change a complicated arrangement, it got mildly contentious and she hung up on me. Which I hate and, of course, burst into tears. FFS I'm a 52yo woman! Not some angst ridden teenager with pmt! I just can't cope with the slightest derailment at the moment. I simply don't recognise myself. I'm embarrassed writing it here yet again. I won't anymore. Just presume I'm weeping on a regular basis...
And now I'm consoling my still wet eyed self with a café lunch and there's a revolting couple refusing to control their toddlers who are literally screaming, running around and banging on the windows. When my kids were that age if they behaved like that they were packed into the pram and taken home. I only had to do it once with each kid. They never did it again because I don't do empty threats.
Hurrumph. I am grumpy as f**k.
107 Replies
- As are you @JJ70. That's very nice of you to say. K xox
I reckon Steve sees what we all see Kate. A classy, intelligent, compassionate and beautiful lady. You are a prize indeed - scars and shrivelled vagina included.- Thanks @Sarnicad. Being home alone is bliss. I rarely have it. Tell your husband he's not the only bemused spouse. Gawd I feel sorry for mine. He thought he was getting a trophy wife. Instead he got a probably genetically cancer prone woman who has added two difficult children to his list of responsibilities and therefore pushed retirement even further away, and now that wonan has no boobs, a shrivelled vagina and has descended into a weeping madness of a menopause. It's a good job I'm an OK cook...
- Thanks @primek
- Yes, tuck those hats away in the back of your cupboard (as I have done too) and tuck those recurrence thoughts into a small cupboard at the back of your mind, padlock the doors, dust off your hands and worry about that later.....if and when you ever have to.
- @JJ70 Thank you for the hugs, the himugs and the music. I listened to that at 5.30 something this morning. I like his voice. I realised yesterday that there was a lot of heartbreak in my tears. I dreamed about my sister last night. And about getting sick again. I can't pass on my chemo hats yet I realised. I'm convinced I'll need them again so I'll just tuck them away at the back of a cupboard for now.
- @kmakm...........FARK!! where to start...oh - San Francisco. Your spit has gone to San Fran! That's pretty cool.:#
https://www.youtube.com/watch?v=zftcZYdOl3Y
My favourite San Fran song.....
"I've been high. I've been low.
I've been yes and I've been oh hell no."
And I guess that is just what I am trying to say. This BC shitfest is one hell of a ride - highs and lows and this is a fairly deep low right here.
Genetic testing would be a scary thing no doubt. I am not even sure where to start with that, should I or shouldn't I? I have one aunty (dad's sister) that had E+ BC 20 years ago at 57 (she is still with us) and no one seems interested that I have now had it. Still, I worry for Charlotte and myself, considering the breast I've left intact.
Kate, there seem to be some good things there that I picked up from your post.
Firstly, holy fuck - what? You can possibly have the WRONG chemo? Now just take a minute to really absorb that. You had the RIGHT chemo - high fuckin' FIVE to that Dearest!! Imagine sitting there now with the alternative? Nasty!
Secondly. the geneticists that you have seen have said similar/same things. This is good - getting the same feedback and info, rather than contradictory and confusing ifs and buts.
In for a penny, in for a pound - your genes are getting the works like when the Wizard of Oz characters turn up at The Emerald City and get the full going over. :o
Tears are exhausting. I always feel completely broken when I've had teary days. There is a heck of a lot going on for you at the moment and tears are your release valve at the moment, like a whistling pressure cooker. All of that stress and anxiety, fear and worry, grief and heartbreak need to come out somehow. Keep whistling........release the pressure.
BIG HUGS (and even HIMUGS -hee hee) from across the Nullarbor.
https://tenor.com/view/hug-hugs-gif-5727541 - I am @tigerbeth, I am.
- Thank you @kitkatb.
- @Sister I really liked your "maybe grace is about living the best way you can".
