frogspawn

Thanks Jeff.

As you can tell i’m no expert. Genetics is interesting isn’t it? Nature, nurture and everything in between is involved… What is the mutation, what causes the mutation, how can we repair the mutatation…?

Mismatch repair genes are an interesting topic… With some of the websites the language is hard to understand and not so accessible for simpletons like myself…but some of them have some very good reviews that are vaguely comprehensible with a bit of time and effort.

With Torre Muir syndrome it is believed there is significant under reporting because not a lot of physicians know anything about it so they never identify it when problems occur…

Personally i also think that my own familys experience of hepato billiary problems suggests that the 2-7% represents under reporting… if we can change that then it could get more people interested in examining causes and possible cures for cc.

Most importantlly, if nothing else, if more people identify a genetic issue it can help them to help and their relatives get better screening and aid early detection.

You know (more than most i guess) that with current medical knowledge and technology that by the time the itching, yellow eyes, loss of appetite and weight loss comes, things have very often progressed too far to do anything too meaningful to help the majority (present company excepted!!)…and what we are left with is chemo, radiotherapy and some other relatively new techniques…none of which involve a cure.

My hope is that, at least for those with a genetic “cause” they give themselves time, through screening, to get in there early an do something about it!!

Thanks for your interest in the topic. How are you doing?

Frogspawn

I am sorry for your loss too.

You rightly point out that choice is sometimes a luxury that not everyone has with this horrible disease. I suppose choice gives one the feeling of control in a situation where control is not commonly withi one’s grasp…

Another thing to do is to do a family tree and to identify people who have had cancer, the nature of it etc etc. The further back you can go the better (some Doctors use the Amsterdam criteria, based on family history, to determine eligibility for genetic testing). In my limited experience it tends to help get engagement with Physicians and makes them more likely to put you on screening programmes.

Good Point tiapatty. I had never thought of it quite like that before. The time i had with my dad and brother was actually quite long compared to some of the sad stories you read about on this site. 8 months… 8 weeks doesn’t seem like long does it but we try to get the best out of what we’re given, yes?

Good on Jeff G…9 1/2 years is fantastic! Reviewing my comments they now seem a bit morbid. Choices are difficult aren’t they. Marions point about respecting them is a good one…though as i said before i don’t know whether i immediately appreciated that at the time of my fathers diagnosis.

With Torre Muir syndrome (which has links with lots of different cancers including cc) you can really see the difference in the level of research and comment between the different cancers it causes. Colon cancer has massess of literature and research devoted to it (and there is lots of related comment on Torre Muir Syndrome)…but cholangiocarcinoma hardly gets any comment at all even though it is sometimes associated with the same genetic predisposition.

Makes me think that in publicisizing cc and its impacts and in trying to attract funding for research that, for those of you with genetic/familial conditions (and to benefit everyone else with cc), it might be worth the foundation making more of a noise from that angle.

Thank you all for your kind words … they are of tremendous comfort to me even a year on… i know you all have your own scars and losses because of cc. It is a nasty disease, no doubt. I think i read somewhere that there are 500-600 cases of cc in the UK every year (Medline i think).

I have mentioned elsewhere on this site that i think my father (and possibly my brother though i don’t know for sure) had Torre Muir syndrome… an association of skin cancers and internal malignancies caused by a fault in one of the DNA mismatch repair genes (the genes that repair cells in the body that are faulty).

The main internal cancer that this “Causes” is colon cancer but, as you have read, my brother and father both got cc as a result which is a lot less treatable than colon cancer (and the survival rates are so much more depressing).

Torre muir syndrome is said to be quite rare but the literature implies that it is under reported (being far more common than the figures would suggest). I also notice that on the cc sites and info on the general press they don’t often mention genetic factors as a primary “cause” of cc… which may be the main determinant in my family.

It is worth anyone who has had sebaceous adenoma, sebaceous epithileoma melanoma, keratacanthoma or anything similar before or after getting cc investigating possible geentic links…this could help family engage in genetic screening and detective interventions long before they have any actual manifestations of cancer.

From reading the literature it seems that it is very difficult for the surgeons to know how far progressed things are without doing some kind of invasive intervention….and as you say surgery is the only option for a cure.

One thing i forgot to mention about my brothers surgery was that it impacted how quickly he was able to re-commence chemotherapy…he had to wait at least a couple of months after th4e attempted surgery before he could start again… at the time my brother (a qualified Pharmacist so not a lay person in any respect) reckoned that it would have a negative impact on his survival time.

I don’t know whether you have experienced this with Chemo…but he seemed to suffer terribly from post operative infection…and when he was allowed to recommence Chemo that only seemed to get worse beacause of the “Carpet Bomb” effect on his immune system. I’m glad you are having a better experience!

I suppose, at the end of the day, my Dad and brother had two different perspectives. One decided not to opt for surgery, the other threw everything at it.

I should say that my 2nd hand experience and perspective is coloured by the state funded UK NHS system… Make of that what you will!!! This website is fantastic…so many shared experiences… i wish i had seen something like this a year ago!