Genetic testing for Cancer

mklady · April 13th, 2009, 06:33 PM

My best friend received the results from her testing today and unfortunately she carries the trait for ovarian cancer. Her mother died just a year ago from it. She's going to have a hysterectomy next month and right now, she's obviously scared to death. We're only 30 and frankly, this is not the shit we want to deal with but seeing that we have no choice in the matter, ugh.

My dad died from Colon Cancer at the age of 43, the doctor figured he was about 38 when it would have developed. At 20 I was diagnosed with Ulcerative Colitis. Right after Dad died, the oncologist told my mom that we (my siblings and I) should have testing done. Back then, the doctors at the practice I was going to kept dismissing it, usually it was the same excuse, there wasn't enough research to justify it and so on.

After I talked to my friend today, I talked to my husband. He thinks I should have the testing now. I've been reading up on it this afternoon but I'm not really finding much that has me thinking that they've come any farther than 11 years ago. Does anyone else have experience with this, either having it done or knowing someone? I've been vigilant as far as colonoscopies but right now I'm not due for another one until I'm 34. At that point, it's possible that I could have polyps brewing up. If I need to do more, I'd like to know but I don't know if it's possible.

A*O · April 13th, 2009, 07:56 PM

My dad died from colon cancer 4 years ago and since then I've had 2 colonoscopies at his doctor's insistance. There isn't an automatic genetic link but it's wise to have regular, ie once every couple of years, checks. The "good" news about colon cancer is that it develops slowly and any polyps can be easily removed before they become malignant. My dad didn't bother to have any kind of health screening in later life, basically because he thought he was bullet proof and if he'd bothered to have a colonoscopy 10 years ago he'd probably be alive and well today. He was one of 8 siblings, 3 of whom have had checks and polyps were found and all were benign. Knowing all this my sister still hasn't had a check. Unbelieveable.

You have to be proactive with this kind of thing. The protocols may say that younger people needs checks once every 5 years or whatever but if you are sufficiently worried then bang on the desk and insist on a referral. As you know, the proceedure itself is quick and you don't know anything about it. The prep is fairly disgusting but hell, it's worth it.

McJag · April 13th, 2009, 09:57 PM

You husband is right,IMO. Consider this though-you still will have to be tested regularly,because of your Dad. You can still get it.I have the same family history. First time-nothing. 2nd time-3 benign polyps. 3rd time-13 pre cancerous ones. I don't even need the test-I know.
My cousin has the breast cancer gene and just gets checked often. She has had a mastectomy on one side. Decided to wait on the other-nothing so far 6 years out.
Yes, the colon prep is bad,but NOTHING like what my Dad had to go through: 2 major abdominal surgeries and then every single year.

msdeb · April 13th, 2009, 09:59 PM

my dad, grandma and grandpa died of colon cancer, so i figure its just a matter of time. i'm 52, so need to get on the ball (especially since i've already had cancer). the doc said the prep is WAY easier than it was when dad went through it.

A*O · April 13th, 2009, 10:14 PM

Seems like each doctor has a preferred type of prep. Mine recommends a glass of something that looks and tastes like Alka Seltzer, then I sip a litre of very salty stuff that I alternate with sips of strong lemon barley cordial to take the taste away, then another glass of "alka seltzer". Then I have to be near the loo for a couple of hours but that's not painful, just spectacular! And it's absolutely worth it for the reassurance that everything is OK.

I really must get onto my sister about her stubborn refusal to have a check. She says her doctor says it's "unnecessary" but given the family history I'd say it's absolutely essential at her age (42). She was told that a stool test would be sufficient but once you have traces of blood in your stools things are already Not Good and she hasn't done one of those tests anyway. She also uses the Canadian health system as an excuse and says she can't insist on the proceedure or get a referral even if she hops over the border to the US. I suspect she's just not willing to pony up some $$$. Whenever I try to talk about it she gets very pissy and defensive which makes me suspect she's too scared to have a check which is weird because she's very particular about having regular pap tests, mammos, etc. At the moment she's using denial to carry her through - I hope she's right.

McJag · April 13th, 2009, 11:30 PM

Last time I had the salty/lemon & threw it all up. We had to reschedule. Pills with tiny jars next-bit in gingerale. I could do that.

A*O · April 14th, 2009, 04:12 AM

I find it helps to drink the prep ice-cold. It takes away at least some of the 'lovely' taste. Or maybe chuck in a load of tequila and pretend it's a margarita?

mklady · April 14th, 2009, 09:10 PM

The prep is hideous, lol. I learned the hard way to never mix the phosposoda in anything you want to drink afterwards. I couldn't even smell Sprite without gagging for at least 5 years! That first prep was hideous, the second one was horrible and even though I followed directions, I wasn't getting any "results", just sick to my stomach. Hubby had to mix something up and drink that with something out of the big jug. It was gross, lol.

This is one of the things that pisses me off. When Dad was diagnosed his oncologist told him and my mother that colon cancer that shows up before 50 is genetic/hereditary, after 50 is just random, age-related. I went through hell for over 2 years, was sent home from the hospital still passing blood (sorry for the tmi) and it wasn't until my husband told a doctor about my dad dying from colon cancer, that they scheduled a colonoscopy for me.

There are two main types of colon cancer that they have discovered umpteen gene mutations for. I have a suspicion that Dad fell into the FAP category. I contacted his sisters yesterday (both have had polyps) to see if they had the testing done. Dad's cousin also had colon cancer and now has a permanent bag. I already had one doctor tell me to get a bag in 10 years just to be safe, that was when I was 24! Needless to say I left that appointment in tears.

Our plan for right now is to wait until hubby's insurance benefits kick in with the SSA. Another friend who has Li-Fraumeini warned us all to make sure we have life insurance policies in place on ourselves and our kids. She can't get anything on herself or her son who also LFS. Thankfully it will only be a month for that to be taken care of.

LynnieD · April 14th, 2009, 09:18 PM

Oh gosh mklady. Sorry you have to deal with all of this.

I don't know a lot about Colon Cancer, but know that early detection (as with most cancers) is key. And I DO know, that you have at least one little guy----isn't that him in your avatar?? If, for no one else, get ANY testing done for him. Because even if its BAD news (and it might not be!!!!!) you can be armed and ready to deal with only the possibility of this happening. It's not a death sentence. It's just a GREAT knowledge to have--and you can take the steps necessary to deal with it accordingly.

Good luck!! Sounds like there are, unfortunately, a lot of posters that have had to deal w/this horrible disease too. Sorry for the loss of your Dad.

A*O · April 14th, 2009, 09:30 PM

Just because you have the gene - assuming it can even be detected - doesn't mean you will develop the disease. It certainly means you have a higher risk so regular testing is absolutely essential and will probably save your life. Colon cancer is the second biggest killer after lung cancer and if detected at an early stage it's totally cureable. Yes, the colonoscopy isn't wonderful but it's not so traumatic that you'd never do it again. And it's the only sure-fire way of knowing that your lower intestine is healthy. Eating lots of fibre helps too!

ariesallover · April 15th, 2009, 09:02 PM

Quote:

Originally Posted by mklady

After I talked to my friend today, I talked to my husband. He thinks I should have the testing now. I've been reading up on it this afternoon but I'm not really finding much that has me thinking that they've come any farther than 11 years ago. Does anyone else have experience with this, either having it done or knowing someone? I've been vigilant as far as colonoscopies but right now I'm not due for another one until I'm 34. At that point, it's possible that I could have polyps brewing up. If I need to do more, I'd like to know but I don't know if it's possible.

My dad was treated for his second bout of a GI cancer at Fox Chase. He died within 5 mos. of being dx. (Dad's first type was colon with polyps that had to be pruned out for years later on).

I have a condition that is immune system-based and have been on meds for it, including steroids, which you probably have taken.

B/t the family connection and my own illness, the Fox Chase crew was emphatic with me that I get a colonoscopy early and start testing early. I will need it before 40, so I'm gearing up for it shortly.

Of course I have a researcher friend who has told me everything ugly about the colonoscopy, from kidney damage through the prep to perforations from the scope causing irreparable damage. I think dying from cancer that is detectable is worse.

I believe the sensitivity of the camera's field of vision in the scope is better, and doctors have come a way in learning to see what's in front of them (more subtle presentations, atypical presentations).

A*O · April 16th, 2009, 08:04 PM

There are some risks involved but they are small and worth it IMO. If you have polyps they can be removed there and then. If you don't have polyps or any other abnormality you have the reassurance of knowing everything is OK. Win Win.

LynnieD · October 19th, 2009, 01:52 PM

Well, I'm bumping this one, sorry!

Just went to the GYN today and am myself being tested genetically for the Breast Cancer gene. My mother was diagnosed in her early 40's, died at 50. I will be 40 in December.....

I will be getting a digital Mammo this coming week, and depending on the Genetic testing results and the digital mammo results---might go on for an MRI (which I have wanted for a few years now--I have the most dense, thick boobs you have ever seen and regular mammos just don't even penetrate them seriously).

I hadn't really gone in today thinking about this, but they mentioned it, and it is a quick blood test thing, so did it. I guess it is better to be armed w/the info and take it from there.

I am assuming I have it, so won't be completely destroyed if/when I am told that, but I'm sure I'll be pretty weirded out. Dunno. Will see I guess.

Keep your fingers crossed!