I still can't believe I'm saying/thinking this... but I have decided to have a bilateral mastectomy with breast reconstruction. Dr. Resta, after having gone over my family history, agreed that this was a wise decision and the primary reason for my going ahead with the consultation with him today was not regarding the fate of my breasts, but to learn whether I should be concerned about future Ovarian Cancer and also to learn if my siblings should having genetic testing done.
I'm very grateful to have spoken to Aunt Noreen this week who was able to give me the best information I could have to offer to the Geneticist today regarding our 'family medical history'.
My $29.95 Sansa MP3 player paid for its worth by allowing me to use the 'voice recorder' to save the conversation we had today. These are some of the pertinent points of information gained today.
After asking me a litany of questions regarding my medical history and the history of my 1st & second degree relatives; he then asked and proceeded to check my hands mouth/tongue for signs of something called 'Cowden Syndrome', thankfully it's one of the things I don't have... and don't have to worry about!
He then went on to 'start at the beginning' of explaining stats/probabilities of Cancer:
* If you are born Female, in the US the lifetime risk that most women face is about 12%
* Of all of that Breast Cancer, 90% is NOT genetic
* What causes this 90%, no one knows
* At this time there are 6 specific genes that are known to be directly linked to Breast Cancer. The most well know of these are BRCA1 & BRCA2 . (I didn't gain any insight on the remaining 4, as Dr. Resta explained that since I did not show signs of Cowden Syndrome, which are apparently directly linked to these 'other 4', this wasn't necessarily a concern for me). Yes... I'm confused too!!
* We all have 2 each of the BCRA1 & BCRA2 genes, we all receive one of each from our Mother and Father. It is 'mutations' in these specific genes that they look for.
* In his experience, about 1:4 women with my history and having an 'early onset, diagnosed Breast Cancer' will test positive for a mutation in either the BCRA1 or BCRA2 genes, and that those numbers warrant my going ahead with the testing.
* If I test positive my likelihood of developing a second Breast Cancer (not a recurrence of the one I'm dealing with now) would increase from 5% to 40 - 50%. A possible, secondary Breast Cancer may not be as 'kind' as my current DCIS. (I am more thankful every day that things aren't any worse than they are!)
* Another implication is my increased risk of Ovarian Cancer. Average women have a 2% chance of Ovarian Cancer in their lifetime, a positive BRCA test increases the risk to 20 - 40%. Since there is no current effective screening nor treatment for Ovarian Cancer, all women who test positive are strongly recommended to have their ovaries removed within 6 months of this finding.
* Other concerns move on to my family members.
* If I have a positive BRCA1 or BRCA2 my brother/sisters have a 50:50 chance of also being positive. What this means would depend upon their gender and which gene (if either) showed the mutation. BRCA1 has no particular risk for 'Male Cancers' but men can transmit it to their children. If the 'parent' does NOT have the mutated gene and is not diagnosed with a Cancer, it would not be deemed necessary for their children to be tested.
**** (A thought from Me) : What I understand all this to mean is... I am taking the responsibility on to be 'the first' in my family to have genetic testing done. If I do not test positive for the mutation in these genes it does not mean that my siblings do not have the mutations and it would be up to them (with the knowledge of having the same family medical history as I do... and adding me as a 'sibling with Cancer') to decided whether they should be tested. The reason for having the tests would not only to be aware if they were at increased risk of future Cancers... but also to know if their children should be tested. For instance, if a young woman (such as one of my nieces) has tested positive, her Breast Cancer screenings would begin at age 25, giving the opportunity to catch a Cancer in its earliest stages should she develop one. ****
* If there is a mutation in the BRCA2 gene this could effect the 'male' members of the family with higher likelihood of Male Breast Cancer (yes... sadly there is such a thing) and also higher likelihood of Prostate Cancer.
* If my sister is tested and is positive for the BCRA1 mutation that would mean that she has a 70% likelihood of developing a Breast Cancer in her lifetime and it would be recommended she have her ovaries removed. Her Breast Cancer screening would elevate from just regular, annual Mammograms to MRI Breast Screening. It would also mean that her children should be tested and if found to have mutations, should undergo additional, regular Cancer screenings.
Dr. Resta was also very thorough in detailing how the various insurance companies handled all of this 'genetic testing business'. It used to be that people worried about testing 'positive' then not being able to find a company to cover them in the future. This is no longer so, as law passed (here in the US) stating that 'insurance companies cannot refuse to cover individuals based upon genetic testing/findings'. That's all kind of 'moot to me' because the insurance companies already don't like me because of my DCIS (I wonder if that changes in the future, after I have my breasts removed?).
So... we decided that I would have my blood drawn today. It will now go to the only lab in the US that does gene testing Myriad Genetics. A third party insurance company will be responsible for doing the due diligence with our insurance company to find out how much of the cost/if any they will cover. Total cost of the blood screening is $3,100. The third party will contact me if the total cost billed to me will exceed $375.00. It would then be my decision whether or not to proceed with the screening. (I'll let you know when/if it comes to that). Test results general take 3 weeks.
To balance all of this out... as life often has a way of doing... when David & I got home from the doctor visit today... my Green Card was in the mail. "Welcome Lisa, you are now a Permanent Resident of the United States of America" :)
Next step is on to see the Plastic Surgeon on Monday/Dec/15 to find out what the best type of reconstructive surgery will be for me. We've both been doing lots of reading and right now it looks like a TRAM Flap is the best option if that is available for me. Some of you, if you're still reading... may be thinking this all sounds like I'm dealing with this too well and that I should be *shrugs* more upset or angry or something. Trust me, I'm plenty of everything and doing my very best to keep my head. If anyone thinks I'm handling this any differently than I should be or making decisions they wouldn't dream of... *looks down at her shoes* ... the only way you'd ever know what you do if you were 'in my shoes'... would be to actually be 'in them'... and I hope no one I love (or anyone else for that matter) ever is...
No comments:
Post a Comment