Living with BRCA – 2023

 

Hello and welcome to my first blog in a long time.

2022 was an interesting year. We were following lock down rules and pandemic precautions while trying to maintain open communications with family members. We adopted Zoom as a normal way of having a family get-together. Once, I cooked a brisket on my smoker and then drove around central Texas delivering it to my children. Later we connected on Zoom and had a “family dinner”.

Eventually we would meet on the deck in my back yard. Each of my children’s households had an assigned space with a buffer zone from their sibling’s family. We ordered Pizza and had the boxes marked for each family group.

Bottom line, we worked hard to maintain our family connections. It’s my family that supports me in my journey. I certainly try to support them in their journeys.

A little over 40 years ago, my mother had a mastectomy. Her cancer was isolated to her right breast, and she did not take chemo after the surgery.

About 22 years ago, my family doctor called me at work to say the mole on my left forearm was in fact basal cell carcinoma. Skin cancer at the age of 43. The surgery to remove the cancer took about an hour under local anesthesia only.

A little over 11 years ago I got the worst phone call of my life. My daughter had been diagnosed with stage 2 cancer and would start chemo right away. Six months of weekly chemo followed by 7 weeks of daily radiation treatments, and several surgeries. It was during her chemo treatments that my whole family was tested for genetic mutations.

Reading the BRCA test results made me feel like a cold dark ominous cloud is hoovering over their head and a really nasty tornado drops slowly out of the cloud. This swirling storm of pain and hurt is long lived but must be dealt with. The recovery needs to start immediately and the best way to start the recovery is with education. Organizations like F.O.R.C.E. are an excellent source to learn about genetic mutations of reproductive tissues.

Here's a snippet of my test results: 

"POSITIVE FOR A DELETERIOUS MUTATION

 

Test Performed: 6503delTT BRCA2    Result 6503delTT    Interpretation Deleterious

 

This test is designed to detect the specific mutation(s) or variant(s) indicated above. The classification and interpretation of all variants identified in this assay reflects the current state of scientific understanding at the time this report was issued. In some instances, the classification and interpretation of such variants may change as new scientific information becomes available. The results of this analysis are consistent with the germline BRCA2 frameshift mutation 6503delTT, resulting in a stop codon at amino acid position 2098 of the BRCA2 protein. Although the exact risk of breast and ovarian cancer conferred by this specific mutation has not been determined, studies of this type of mutation in high-risk families indicate that deleterious mutations in BRCA2 may confer as much as an 84% risk of breast cancer and a 27% risk of ovarian cancer by age 70 in women (Am. J. Hum. Genet. 62:676-689, 1998). Mutations in BRCA2 have been reported to confer a 12% risk of a second breast cancer within five years of the first (J Clin Oncol 17:3396-3402, 1999), as well as a 16% risk of subsequent ovarian cancer (J Natl Cancer Inst 91:1310-1315, 1999). Additionally, studies have shown that BRCA2 mutations confer as much as a 7% risk of pancreatic cancer by age 80 (J Med Genet 42:711-9, 2005); however, this risk may be higher in families in which pancreatic cancer has previously been diagnosed (Cancer Res 64:2634-2638, 2004). This mutation may also confer up to an 8% risk of male breast cancer and 20% risk of prostate cancer by age 80 (J Natl Cancer Inst 99:1811-4, 2007; J Natl Cancer Inst 91 : 1310-1315, 1999), as well as increased (albeit low) risks of some other cancers. Each first degree relative of this individual has a one-in-two chance of having this mutation. Family members can be tested for this specific mutation with a single site analysis."

My children are doing well now and in fact the oldest gave birth to a beautiful baby girl at the beginning of 2022.

About 4 years ago, I was told that I had thyroid cancer and the cancer had spread to my lymph nodes. The surgery to remove the cancer took about 4 hours. A few months later I had radiation treatment and shortly afterwards was told that I was cancer free.

While recovering from thyroid cancer, I made a commitment to get healthier in order to face the challenges that are certainly coming in the future.

I truly hate cancer in all of it's forms. It's a hideous and heart wrenching disease! 

As a BRCA 2 positive person, I know another battle with cancer is in my future. 

It's imperative I be ready by surrounding myself with the best support team possible. (I absolutely have the best family and doctors a person could ever ask for!). 

It's imperative that I prepare for the upcoming battle by getting healthy. My next blog details my weight loss journey and a few of the many lifestyle changes I have made. 

It's also imperative I prepare by educating myself on the disease and available treatment options along with the steps I will need to take during treatment.

My next blog is in draft form now but should have it ready soon, So, check back often and subscribe to be notified.

Until then, I wish you wellness and look forward to reading your comments. If you are not comfortable with leaving public comments, send me an email.

Thank you and take care.

Charlie