I've always been a good speller
I went to genetic counseling today. That sounds very futuristic, doesn’t it? But it was just a meeting with a genetics specialist to discuss whether or not I should be tested for the breast cancer gene mutations, BRCA1 and BRCA2 (for those who are unfamiliar, that’s pronounced “bracka one and bracka two”).
I filled out a big family history prior to my meeting, and from that, they plug it all into a computer model, which assesses your risk for the gene mutation. I came out at a chance between 40-48%. Even though I only have one grandmother with significant cancer, who developed ovarian cancer at age 97, my risk is higher because of my Ashkenazi Jewish background.
Fortunately, all the test involves is a little blood in a tube, so they are going to collect that tomorrow while I’m already plugged in for chemo. It takes about a month to get the results back. There is one lab in the whole world that can do the test because they own the patent; so it takes awhile.
The way the genetics counselor explained it to me, what the lab does is find the genes (bracka one and two) in your DNA, isolate them, and then sequence them. There are two areas on BRCA1 and one area on BRCA2 which are known to cause the mutation. Basically, they are like misspellings or typos on your DNA. Two letters dropped here, one letter added there, and boom, you have cancer. It is mind-blowing to me that one tiny little mistake like that can cause something so enormously big. I’ve always been a good speller though, so I’m thinking that my DNA might be, too.
The results don’t have a lot of significance for me, personally. I mean, if it turns out that I do have the mutation, it’s not really big news; I already have cancer. Not exactly helpful as a warning. But it could be helpful to family members. Also, if it is positive for the mutation, there is a clinical study starting soon for women with the mutation who have metastatic breast cancer and whose chemotherapy has failed. It’s a new, experimental, targeted therapy. So that might be an option.
And if it’s negative, then it doesn’t really mean anything. It all just arms me with greater knowledge about my cancer.
By the way, the virus/flu/cold or whatever I had is finally on its way out. That was one heck of a bug.
I filled out a big family history prior to my meeting, and from that, they plug it all into a computer model, which assesses your risk for the gene mutation. I came out at a chance between 40-48%. Even though I only have one grandmother with significant cancer, who developed ovarian cancer at age 97, my risk is higher because of my Ashkenazi Jewish background.
Fortunately, all the test involves is a little blood in a tube, so they are going to collect that tomorrow while I’m already plugged in for chemo. It takes about a month to get the results back. There is one lab in the whole world that can do the test because they own the patent; so it takes awhile.
The way the genetics counselor explained it to me, what the lab does is find the genes (bracka one and two) in your DNA, isolate them, and then sequence them. There are two areas on BRCA1 and one area on BRCA2 which are known to cause the mutation. Basically, they are like misspellings or typos on your DNA. Two letters dropped here, one letter added there, and boom, you have cancer. It is mind-blowing to me that one tiny little mistake like that can cause something so enormously big. I’ve always been a good speller though, so I’m thinking that my DNA might be, too.
The results don’t have a lot of significance for me, personally. I mean, if it turns out that I do have the mutation, it’s not really big news; I already have cancer. Not exactly helpful as a warning. But it could be helpful to family members. Also, if it is positive for the mutation, there is a clinical study starting soon for women with the mutation who have metastatic breast cancer and whose chemotherapy has failed. It’s a new, experimental, targeted therapy. So that might be an option.
And if it’s negative, then it doesn’t really mean anything. It all just arms me with greater knowledge about my cancer.
By the way, the virus/flu/cold or whatever I had is finally on its way out. That was one heck of a bug.
posted by Rachel Troxell at 8:41 PM
4 Comments:
Rachel,
wanted to wish you good luck tomorrow with the chemo and I'm so glad you're feeling better! The genetic counseling sounds very interesting to say the least. We're all learning so much as we travel this journey with you.
It was so good to see your posting. I worry about you when I don't hear from you. I'm so glad you're feeling better. I knew a little about the BRCA genes, but it is so intereeting to learn more. One thinks you have control by good diet and exercise, but not if the genes are stacked against you. We are just beginning to learn about disease. I hope your chemo goes well. I think about you often and you are always in my prayers.
I was so glad to read your posting, I was worried that the flu-bug was getting the better of you. Silly me.
Thank-you for sharing the information learned at genetic counselling. Knowledge is power.
I will be thinking of you extra today as you receive your chemo....sending positive energy, caring thoughts and invisible hugs.
Wow-
Sounds like waaay more information than anybody would really want to know about their own genetic material. But, like others say, knowledge is power. Keep plugging.
Dan
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