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
- @kmakm Hi Kate, you could say we've been feasting our eyes on that scenery for over 20 years...that's how long we have been going there for holidays and looking into the real estate agents windows...dangerous that! We bought our home in 2015 with plans to extend so we can take in the view from inside our home as well as outside. In winter in looks stunning with all the hills and mountains covered in snow and in summer you can cool off in the river. When Fred decides he's retiring we're moving, though the extension will have to be done first. We'll always have a Melbourne base for family, shows, medical stuff though we are lucky to have a full time med clinic up there as well as a hospital, mainly because of Falls Creek and Hotham. Too many people having accidents in winter! Our eldest daughter is up there regularly despite the 4 hour drive. It seems to get shorter the more we go up and we're up there every month.
This is the Kiewa valley in winter 2018 stretching from Mt Bogong on the left to Hotham/Feathertop on the right. It was a spectacular season. There are still patches of snow on Bogong.
I went to see my exercise physiologist recently just to make sure i was on track with what i am doing and came away with a new 4 month rotation of gym exercises. It was really good touching base after 6 months. I'm still enjoying gym and it has helped keep my body moving although it's not the fix i thought it would be in easing the joint and muscle issues caused by that lovely drug. But i keep reminding myself what state I'd be in if i didn't do it...the word decrepit comes to mind! Should have been to gym roday but i figured 4 hours in mum's garden yesterday was enough of a workout and my hands are not in the best shape at the moment. Lunch beckons and then some embroidery. Keep well, love Cath - Thank you @Sarnicad. K :)
- @kmakm you can get therapy dough for about $15 and it comes in different strengths. The strength thing was important because initially he could barely do any of them. My son had this to help with his grip and fine motor skills and I can remember the exercises he did still as well. Things like rolling it into a snake and then making that into a snail. Making a volcano was another one. The killer exercise was to get a a small ball of dough and using his thumb roll it up and down each finger
http://www.thetherapystore.com.au/product/theraputty/ - @AllyJay Good to hear. K xox
- I think it was a combination of things @kmakm. My general condition improved and I was using my hands more, knitting, reading, just general up and abouting, but I have to say, I think it helped a lot. If nothing else, it worked as stress balls for me. Each squeeze, both with the dough in my palm, as well as pushing one finger at a time into the lump in my hand, helped me to squeeze out my anger and frustration at this whole shitfest. Then I found myself actually playing with the stuff...rolling it into little balls and snakes and then making little figures...actually was quite therapeutic for me. My grip is now good considering my finger joints are so totally stuffed from the scleroderma.
- Hi @AllyJay. So do you think it strengthened your grip?
- Hi there @kmakm...the physio as the hospital wanted me to get some special exercise dough (available from a medical supplier in the hospital foyer) to strengthen my grip too. My husband went down and priced it...$42.75 for a small tub. To heck with that, so he bought a tub of playdough from Kmart for 75 cents. I split it in two and squeezed the hell out of it whilst reading my kindle. In between did my good old knitting. This was during the time I was having my chemo with all the hospital admissions and I was as weak as anything. I had just basically been lying in bed, feeling like death and so needed to build my strength even to just sit in bed, never mind walk.
- @Artferret Hi Cath. Thank you for such a lovely post. Congratulations on the one year clear for you both. It's wonderful.
I've had a colonoscopy once before. The prep is ghastly... I'd be happy to never have an anaesthetic again in my life but to be out of it, even briefly does have appeal! Next year, next year. I've had it with 2018. I can't take anymore cancer this year. I just want to get through the next few weeks and go to India and feed my soul.
I have an underactive thyroid like your mum. Just had my annual blood test, I'm steady on 100mg Thyroxin daily. I hope she's going OK.
Gosh your view is stunning! How long have you been feasting your eyes on that?
The CHEK2 mutation is a blow, but yes, now I know, I can be vigilant. I'm almost used to it now, the seemingly endless blow after blow. What to do? I'm going to expect the worst, keep my horizon short term, and take the odd moment of happiness if and as it comes.
I'm enjoying ExMed a lot, so no fear i'll give up the gym. My hands are still ridiculously weak from the chemo so I asked my exercise physiologist to give me an exercise to strengthen my grip. I'm now carrying heavy kettle bells back and forth in a hallway in the gym!
You sound so happy Cath, long may it stay that way. Big bear hug, Kate xox - I’m up for the cuddle xxxxx
- @mum2jj Thank you Paula. I have given up hoping that life will give me a break. It's just one thing after another, year after year. I plod on but without any expectation of the run of bad news and events ending. It is what it is.
Yes, happy with a retrospective win in the BMX decision. To the list of cancers I now know I am susceptible to, you can add bladder and urethral, oh joy. Still, as I said, I have the knowledge now. I can be watchful and prepared.
Thanks for the huge hugs. I'll take them! Feel like spending the next 12 months in an extended, protective cuddle. Wouldn't that be lovely?! K xox
