BRCA

 

 

10 weeks ago my son Lincoln, my husband Adam and my “Genetics” were sent off to a lab to be tested. They were trying to decode what is causing all Lincolns brain malformations and see if there is a “syndrome” for him to be categorized under. It was easier for them to investigate if they had mine and Adams samples to go along with to see which parent it came from, we were educated on the facts and the possibility of us finding out genetic mutations in ourselves.

We found out the results about a month ago.

I suspected after his first surgery that he had a condition called EDS, Ehlos Danlos Syndrome and that is why his jaw was dislocated so easy during surgery and also explains why his scar on his neck is so wide. EDS is classic type is a connective tissue disorder characterized by skin hyper extensibility, abnormal wound healing, and joint hypermobility.

His genetic results confirmed the EDS prediction, as of right now we will wait and watch as he gets older. Adam also carries this gene and doesn’t show any symptoms, that’s encouraging, although Lincoln has shown a couple symptoms already.

Another genetic condition came up called Ichthyosis- we have known that since day 1. It was confirmed that he got one ichthyosis gene from me and one from Adam. 1/4 of our children were going to get Ichthyosis. A rare skin condition that presents as scaling. He cant sweat and overheats very fast.

The next one was a complete shock to me. BRCA2. Stands for Breast Cancer. Angelina Jolie ring a bell?

The only one that was a surprise to me was the BRCA2 gene. I knew about his other conditions. Deep down in my heart, I know this test was done to bring me knowledge of this gene. I have NEVER been concerned about my breasts.

Lincoln saved my life.

 

 

Lincolns genetic counselor told me to call and get in ASAP for some screenings. I should have started getting Mammograms at 25. I’m only 3 years late.

Here are some facts on the BRCA2 gene.

You read that right. I have the risk of up to 85% that I will develop Breast Cancer.

Lincoln lives with a life threatening condition, now so do I.

I am Lincolns BIGGEST advocate. Adam and I are a TEAM. I cant even begin to start thinking of not being here. The thoughts overwhelm and rush through my head day and night. My children can not and will not be motherless. My son Zion who is 7. Ruthie who just turned 5 and my Lincoln who is 2.5

 

Making the call the Seattle Cancer Care Alliance was not easy. Every one there is so nice and walks you through the steps with a gentle voice as if they know this is one of the firsts steps to the hardest steps of your life.

My first appointment was exhausting. I met with the genetic counselor, the nutritionist, ovarian cancer doctor and breast cancer doctor.

The genetic counselor told me the Risks of Ruthie girl getting this gene and to have her choose whether or not to get tested when she is around 25. Other than that she just gave me all the facts listed above.

The nutritionist walked me through ways of reducing my risk of cancer as much as I can environmentally, unfortunately there is no way to cure this cancer “holistically” its genetic. I have been eating Vegan for 6 weeks now. Thank goodness because she informed me I should be eating the least amount of Red Meat that I can, steer away from dairy products, and eat a plant based diet. The other things include working out, no processed foods, cut down on alcohol.

The Ovarian Gyno was very frank with me and said the average population of getting ovarian cancer is about 1-2%, I on the other hand have a 20-30% chance. That is a HUGE jump. I had my hysterectomy last November for other issues and decided to keep my ovaries, I fortunately took my fallopian tubes out so that helps my chances as fallopian tubes help the cancer develop. She explained that ovarian cancer is very serious, If I get it, I will die. When I’m 35 I will be getting my ovaries removed.

My last appointment was with the Breast Oncologist.

I was given two options

1. Come in monthly for a mammogram. Every six months an MRI. Take a “chemo” pill that will help fight developing tumors but has tremendous side effects. Every time something suspicious comes up on my scan I would need to get it biopsied.
2. Have a Bilateral Prophylactic Mastectomy with reconstruction surgery and have a 95% chance I wont get breast cancer.

Adam, Me and the Doctor came to the decision that #2 would be the best option. I pray to God everyday that Lincolns shunt wont malfunction. I cant live a life in fear of getting cancer. If you were told that if you went driving on Thursday there would be an 85% chance you would get in an accident and die, I bet you wouldn’t go driving on Thursday.

I’m going to survive this. I am a Previvor

This will be a long road ahead.

This is not just a “boob job”

A “boob job” (Breast augmentation) is the surgical placement of breast implants to increase fullness and projection of the breasts or to improve symmetry of the breasts.                           Breast augmentation is usually an outpatient surgery. It’s a cosmetic procedure with immediate results. The scars are in most cases pretty undetectable, there are generally few complications and recovery time is usually complete after a few weeks.

 

What is breast reconstruction?                                                                                                 

Breast reconstruction is achieved through several plastic surgery techniques that attempt to restore a breast to near normal shape, appearance and size following mastectomy. Although breast reconstruction can rebuild your breast, the results are highly variable.                                                                                                                         

The two definitions do a pretty good job explaining the differences, especially if you read between the lines a bit.       

Though often times breast reconstruction is done immediately following mastectomy ( the surgeon removes all the breast tissue) , the entire process from beginning to end can still take months. Even with immediate reconstruction (utilizing most common implant option) at the time of the mastectomy drains are placed to reduce fluid build up and swelling, then temporary tissue expanders are put in place  and then filled slowly over weeks and even months allowing the skin to stretch slowly and somewhat less painfully. At the determined time, another surgery follows during which the expanders are removed and implants are put in place.

 

The doctor went ahead and ordered an MRI to prepare for my appointment with the breast surgeon.

I got a call that I have a condition called DCIS on my left breast, covering more than half. Ductal carcinoma in situ (DCIS) is the presence of abnormal cells inside a milk duct in the breast. DCIS is considered the earliest form of breast cancer. DCIS is noninvasive, meaning it hasn’t spread out of the milk duct to invade other parts of the breast.

I also have a mass on my right breast.

I was told I needed to have biopsies on both breasts to investigate.

On Friday the 11th of August I had a biopsy done on my right breast.  I had to have a mammogram before the biopsy. Then the biopsy was guided with an ultrasound machine and I was given some lidocaine, I sat and watched the whole thing on the screen. The first sample was abundantly painful, 5 more samples followed. I decided right then that my decision to go with option 2 was made very clear, I don’t ever want to do this again. The needle had to go very deep as the mass was near my chest wall. Then a titanium clip was placed to reduce the bleeding. After the nurse placed vigorous pressure on the site to stop the bleeding, I had to go in for another mammogram aka smash my breast in a machine after getting that painful procedure. I should find out results this Wednesday or Thursday.

I go in on August 22 to have the biopsy done on my left side. They need to use the MRI machine to guide where to get the samples from and the procedure takes up to 2 hours. It will be even more intense than the first biopsy. They will determine what stage the DCIS is.

My doctor said I just need to take one day at a time and that is what I’m doing.

My surgery may not happen depending on my results. I would have to treat the cancer and then do the Mastectomy.

Thank you all for your concerns and prayers.

This verse has really stuck out to me and Im going to focus on it on this Journey.

Isaiah 41:

¹⁰ So do not fear, for I am with you;
    do not be dismayed, for I am your God.
I will strengthen you and help you;
    I will uphold you with my righteous right hand

 

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