A little gene lesson

I’ve had a few questions about the breast cancer gene I talked about yesterday so here’s my explanation. Let me preface this by saying that this is my understanding and I’m not actually quoting research so if there are errors, my apologies.

There are two known “breast cancer genes”. These are known as BRCA1 and BRCA2. If you test positive for one of these genes, basically the safest thing to do is remove all your lady parts. Carriers of these genes have an 85% chance of breast cancer, either getting it for the first time or recurrence. Also, there is a high instance of ovarian cancer with these genes so not only is the double mastectomy recommended, but also removal of the ovaries. In addition, if you are a carrier of one of these genes, you have a 50% chance of passing it along to your children. Males can have the gene as well which shows up as different types of cancer (male cancers) but the occurrence rates are higher in females. So, in a nut shell, it’s really good that I don’t have one of these genes.

However… as I said yesterday, the genetic counselor told me that they believe there are two additional unidentified genes. They are seeing a pattern of young (under 40) women diagnosed with triple negative, super aggressive IDC which is exactly what I have. The group that is trying to track down these “new” genes is the same group who identified the first two so I think they know what they are talking about. The good news is that they do not believe the unidentified genes carry additional risks for ovarian cancer, etc. but the overall risk is unknown until they get to know the genes. For now, they are telling me there is no “identified” elevated risks for recurrence. At the same time, I am going to sign the paperwork for this group to receive all of my gene study data so that hopefully they can identify the genes. Hopefully someone can learn something from all of this, right?

Now that we’ve got that covered, today was a pretty good day. Full of people making my world a happy place. We had family portraits taken this morning, then came home to some lovely women turning our disaster of a sun room into a wonderful area for me to sit and the kids to play. Now I will be able to be close to the sunshine without being in it and I won’t have to go up and down the stairs on days I don’t feel up to it. Dad came over to install a new ceiling fan and mom brought me some presents. I even got some chili out of the freezer that my sister made for me so I got love from all around. I took a little nap with Evelyn, who decided today that purple is her favorite color. She only learned the word a few days ago, but everything had to be purple today. Eric got Fletch some new Vans that look like crocodiles and they had lots of fun at the skate park. We even made blue Jello which both kids thought was the coolest thing ever. I felt tired, but not too bad. Things are wearing me out quickly which I’m not used to yet. I don’t have much appetite, but I ate oatmeal this morning and chili this evening so I’m happy I got more in than just toast. High five me.

Oh, and I almost forgot – I took off the last steri strips today. I thought the other day that I had a pimple right next to the strips (they cause all kinds of irritation) but I’ve realized over the last 24 hours that it’s actually a stitch under the skin – when it gets rubbed it feels like a sliver of glass in there. Not super comfortable. I can see lots of parts of stitches sticking through the skin which is super attractive, but from what I understood she said the stitches were all internal dissolvable so I guess some of the ends have worked their way out. I’m sure it will look better in a few days, but here’s what I’ve got for the moment:

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2 Responses to A little gene lesson

  1. Melanie says:

    High five!!!

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