Jeanne-Marie’s oncology journey
Jeanne-Marie*[not her real name] lives in the Western Cape and is 41 years old. She’s a career woman, a wife, and a friend, and is currently undergoing breast cancer treatment.
“My diagnosis was quite late,” says Jeanne-Marie. “I’m young, but I also have recurring multiple sclerosis (diagnosed in 2017), so thought that the fatigue that I was experiencing was related to that condition. Then I found a lump in my breast.”
She was referred by her GP to a specialist. “I did notice that my left and right breast didn’t “age” equally and thought maybe gravity kicked in earlier in the left breast while the right remained more perky but then I felt a lump on the right side of the right breast which prompted me to go and see my GP, I was immediately referred to Apffelstaedt, Hoosain & Associates.”
A mammogram, 3D ultrasound and a needle core biopsy were all done that same day. “They then advised me that what they saw was most likely a malignant tumour and this was confirmed once the results were received back – it was Stage 2 breast cancer.”
This stage means that the cancer is growing but is still contained to the breast or growth has only extended to the nearby lymph nodes.
As Jeanne-Marie is young for a breast cancer diagnosis, genetic testing was also done post diagnosis and the results were that she had a disease-causing mutation of the BRCA 2 gene. This mutation means that it’s highly likely that the cancer will be very responsive to treatment.
The treatment plan has been tailor-made for Jeanne-Marie (as all plans are). As she was pre-menopausal and the ki-67 (proliferation rate) of the tumour was high the decision was to start with chemotherapy. The treatment involved eight chemotherapy cycles to reduce the size of the tumour. “The side effects from the chemotherapy have primarily been nausea and a metallic taste in my mouth for the first 4 sessions, and my mouth feeling as though it was covered in wax for the next four. Nothing tasted good, not even water, I had to force myself to eat and drink water (I am proud to say I only lost 5kg during chemotherapy).” It was a battle that she has won and was rewarded with a complete response, meaning the cancer was no longer detectable.
She also had to battle fatigue and slept a lot, found that her tolerance levels were non-existent, and she was quite moody and unpleasant at times. In addition to this, she had light-headedness when her red blood cell counts dipped.
Medically, she’s been taking anti-nausea medication, Vitamin B, D and iron supplements.
Mentally, “I worked straight through chemotherapy (I did take sick days after each chemo session) and could work from home due to my multiple sclerosis. Fortunately, I have a great boss that allowed me to take extended naps to recuperate. I rely on my husband as my main support, he has been my rock throughout this journey.”
Jeanne-Marie’s next step in the treatment plan is a double skin-nipple-areola sparing mastectomy with immediate reconstruction and to remove the ovaries (including the fallopian tubes) due to the high risk of breast cancer recurrence and the possibility of ovarian cancer (due to the BRCA2 gene mutation).
She has been counselled on whether options need to be discussed for future parenthood as well as treatment-induced bone loss as surgically induced menopause will occur.
The pre-op consultation will run through what support will be required.
As of the end of January 2024, Jeanne-Marie has completed her chemotherapy sessions and is scheduled for surgery on 15 February 2024 (one surgery, four procedures, three surgeons). The oncologic surgeon will remove the chemotherapy port and perform the double mastectomy. The plastic surgeon will perform the immediate reconstruction and the gynecological surgeon will remove the ovaries and fallopian tubes.
“Having breast implants was never on my bucket list, I am quite happy with what I have. I did ask on multiple occasions whether there was any alternative but due to having a disease-causing BRCA2 mutation and the high risk of re-occurrence, this is the best option (to hopefully also avoid having chemotherapy again).
After having the genetics counselling and being informed that they recommend the ovaries be removed by the age of 45 it really got to me. It felt as if my womanhood is being taken away from me, not having my own breast was bad enough but now being pushed into surgical menopause really got to me. That is why I asked if everything could be done in one surgery, just to get it over and done with. Let the body and mind go through the same shock and pain at the same time.”
TO BE CONTINUED
Jeanne-Marie would like to share below with all women with a breast cancer diagnosis:
Share what and who you are comfortable with sharing, I did not post it on social media and just told the people I encounter as I had to give an explanation why I no longer have hair.
Understand that not all people cope well with dealing with someone with cancer, do not take offence, you do not know what someone else’s tolerance levels or previous experiences are.
Be kind to yourself, don’t act braver than what you feel (this caused me to have my faint episode and caused me to be more embarrassed of being too brave), and listen to your body’s limits.
Sleep, eat and drink water when you can.
Always try to see the positive in situations, when you chat to your fellow cancer sufferers or survivors in the chemotherapy room you realize how lucky you are, in my case, it is not only treatable but curable. It is also ok not to speak to anyone if you are not up to it.
Don’t guess somebody’s age while they have chemo, I have mistaken a patient’s sister as her mother. Also, another patient’s husband as her son, people look deceptively different with no hair or a chemo cap.
And importantly: “I was already a year late with my mammogram and I only went because I felt something (and probably would not have gone otherwise) which I now regret. I also know that if I do not remove my ovaries now I will probably postpone it and by the time, I notice something then it will probably be too late, again.”
Some of the frequently asked questions that we receive about BRCA genes and gene testing:
We hear about the BRCA gene all the time. Do we all need to worry about it?
Every human being has 2 copies of the BRCA 2 gene. Only when one of the 2 copies is mutated in a disease-causing way does the cancer risk increase.
When is gene testing recommended?
Some people with a family history of breast cancer may choose to undergo genetic counselling and genetic testing to see if they have inherited genes that increase the risk of the disease. It is also advisable to maintain an accurate family medical history to determine if there is a significant family history of breast cancer or other illnesses.
The medical team might advise gene testing if a breast cancer diagnosis is made in quite a young patient.
If the results show that there is a disease-causing mutation of the BRCA gene, does this mean that the cancer will not respond to treatment?
Cancers in BRCA mutation carriers are not necessarily aggressive and mostly responsive to treatment. Every treatment plan for a breast cancer patient is individualised, so the information from gene testing will then be considered in terms of what the treatment will encompass and whether procedures such as ovarian removal should also be recommended.
In addition to BRCA1 and 2 tests, what other tests are commonly done?
- PALB2 – After BRCA1 and BRCA2, PALB2 is currently the third most prevalent breast cancer gene. PALB2 is short for “Partner And Localizer of BRCA2.” In other words, it works in partnership with the BRCA2 gene to repair DNA damage and thereby prevent breast cancer from developing. An estimated 35% of women with a mutated PALB2 gene will develop breast cancer by age 70.
- CHEK2 – “Checkpoint Kinase 2,” or CHEK2, creates a protein that helps suppress tumour growth. Having a mutated CHEK2 gene doubles the risk of breast cancer in women. In men, it makes male breast cancer 10 times more likely to occur.
- CDH1 – CDH1, or “CaDHerin 1,” is a tumour suppression gene that helps groups of cells stick together to form organized tissues. A mutation in the CDH1 gene can increase the risk of forming lobular breast cancer, or cancer that begins in the breast’s milk-producing lobules. Since the gene normally helps cells stick together, a mutation can also make it easier for individual cancer cells to break off from a breast tumor and metastasize, or spread to other parts of the body.
- PTEN – The “Phosphatase and TENsin homolog” (PTEN) gene helps prevent tumour growth by controlling the rate of cell division. It also causes damaged cells to self-destruct before they can become cancerous. Like CDH1, PTEN also plays a role in helping cells stick together, which can help prevent cancer from spreading.
- STK11 – “Serine/Threonine Kinase 11” is another tumor suppressor. STK11 gene mutations cause Peutz-Jeghers syndrome. Peutz-Jeghers syndrome carries an increased risk for multiple types of cancer, including breast cancer.
- TP53 – Also known as P53 (and nicknamed the “guardian of the genome”), “Tumor Protein p53” recognizes when a cell’s DNA has been damaged. It then activates a DNA repair gene (like BRCA1) or causes the cell to self-destruct. If TP53 is mutated, the damaged DNA won’t be repaired and the cell will live on, perhaps becoming a cancer cell. Though some TP53 mutations are inherited, most of them occur during a person’s lifetime and are only found in cells that become cancerous.
Source: https://www.nationalbreastcancer.org/other-breast-cancer-genes/
