Hurry up and wait…

A BRCA Mutation Was Found in My Tumor. Does This Mean I'm a BRCA Carrier? |  My Gene Counsel

I am an impatient person and if anyone should understand how long and tedious it is to extract DNA it should be me. This last week I finally got approval from my medical aid to go for genetic testing. This is a rather pricy exercise so I am glad they agreed to pay. Once again I am going to educate you on what this means in my cancer journey.

Everyone talks about cancer being hereditary and it is easy to determine this when the cancer has occurred before in your family. This is not the case with my family so we needed more information. Understanding your genetic make up is critical to determining the surgery options in my case. Also it may help my family members with their decision making should it be hereditary.

We all have two genes in our DNA (there are others but these two are the important ones) known as BRCA 1 and BRCA 2. BRCA standing for BReast CAncer. Incorrectly, many people think that if you have these genes you immediately are at risk for breast cancer. This is not the case. These genes are present in all of us. They are know as Tumour Suppressing Genes which means they actually stop you from getting breast cancer when they are working correctly. If however they have a mutation of some sorts, this means that the tumour suppressing job that they perform is faulty and voila a tumour can develop. Below is an illustration showing the two chromosomes which hold the two genes.

Non-BRCA Gene Mutations That Raise Breast Cancer Risk

So when I got diagnosed with Triple Negative Breast Cancer (TNBC) I was advised to go for genetic counselling to determine if my cancer is of a hereditary nature. If I am BRCA positive i.e. I have a mutation present, it has implications on the surgery that I need to have. The best way forward if I am positive is to remove all the tissue that is affected by this gene mutation. This would be the breast tissue and ovaries. If I am BRCA negative I don’t need to remove all the tissue and I can have a much less invasive procedure.

Enter the plastic surgeon. My surgeon referred me to an excellent plastic surgeon at the Donald Gordon Hospital. A rather handsome one at that and I had to show this man my boobs! Anyway turns out he was very professional. He had to take photos of my boobs and his camera wouldn’t work so I told him my boobs had broken his camera! We had a good laugh.

He was really great and very optimistic about my options. So the two options are as follows. If I am BRCA positive then I have to have a bilateral mastectomy with a reconstruction. The reconstruction is a big operation and is called a DIEP flap reconstruction. In simple terms, they essentially remove the breasts and construct new ones with your tummy fat so you get a tummy tuck at the same time. The nice part is that they do not touch your abdominal muscles. So a win win situation but it is a bit of a massacre on your body so not the ideal option.

If I am BRCA negative, the other and much less invasive option is a lumpectomy i.e. they remove the “lump” and do a bilateral breast reduction. They make use of the marker already placed in my breast to remove the correct tissue. I was wondering about this and asked because the lump will essentially be gone when I do my surgery. I will then have some radiation therapy to nuke anything left over. My surgeon assures me and has shared recent studies to indicate that a lumpectomy seems to be more effective than a mastectomy these days (if BRCA negative).

Either way I get new smaller boobs! Whoop whoop!!

So why is my patience being tested? Well I have to wait 5 weeks for the DNA results to come out which is very frustrating but I totally get that extracting from the human genome is not a small task. I mean we spent three days just trying to extract the DNA from a leaf way back in honours at Kirstenbosch. I did manage to do it by the way. And then my lecturer made me walk up Table Mountain and nearly killed me. But that is a story for another day.

So while I wait I have two more chemos to go. I am dreading each one more now even though it really isn’t that bad. In the last week I have been walking and gyming and it has felt almost normal (apart from a certain virus). So I really can’t complain. I think I just want to get to the surgery now. I joined a cancer group on facebook and it has been very sobering to see other people’s journey’s and the hardships this disease causes. I have felt a lot of guilt at having a relatively easy, ok very easy journey compared to others. I wish I could spread my healing vibes around. I also keep thinking its too good to be true sometimes but I quickly send this thought away and stay positive cause its the only way I know how.

Till next time – keep safe

8 thoughts on “Hurry up and wait…

  1. Thank you Lizel for educating me & sharing your journey with us.Im enjoying every moment of it.

    Keep strong Girl😘


  2. Thanks so much for sharing- v informative and personal which makes it SO relatable. I’m sending you SO much love and positive energy- keep strong . ❤️❤️❤️


  3. Hi friend
    These blog are truly an eye opener to each lady out there. Lots of hugs from me😘😘😘 you are one inspirational woman. Tess

    Liked by 1 person

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