I always had this inexplicable feeling that I would get cancer, even before I received a positive diagnosis or underwent genetic testing.
It was something I could never explain but something I was always certain of, so when I noticed an unusual feeling in my left breast it didn’t come as a shock.
What I felt didn’t feel like the hard, round images that I’d seen outlined in the “How to Examine Your Breasts” brochures.
Instead, it felt heavy.
Then I ignored it.
At least for a week or so until my husband got sick and tired of seeing me absently playing with my boob and told me to get checked out. Pronto.
A few days later I booked myself into BreastScreen for a mammogram and ultrasound and didn’t think much more about it … until I got a call-back.
My heart sunk. I knew exactly what the result was going to be.
I was 41 years old when I heard those words. It doesn’t matter how prepared you think you are, actually hearing them spoken out loud still rattles you.
My breast cancer diagnosis was Grade 2 Invasive Lobular Breast Cancer, hormone-positive, HER2 negative.
However, I didn’t cry.
And I didn’t fall into a heap.
Instead, I fell into the stoic category, and I immediately shifted into fight mode.
I read, researched, and reviewed everything and anything I could about breast cancer from surgery types, treatment options, and healthy lifestyle improvements but I always returned to the ‘why’.
I never questioned it out loud. But I did search to try and understand why I had gotten cancer at 41 years old.
I pored over my histopathology results trying to interpret them, typing the clinical terminology from my pathology report into Google trying to make sense of my diagnosis.
Yet, I found nothing to indicate that my cancer risks were greater than anyone else.
Or that my lifestyle choices were to blame.
I was healthy.
Ok, maybe I was a little overweight. And I did enjoy my wine.
Ok, ok, maybe I enjoyed it a little too much.
But I didn’t smoke!
And even though my diet wasn’t fantastic, it certainly wasn’t unhealthy.
My family did have a history of cancer. But I still didn’t qualify for genetic testing when I met with the geneticist after I had finished my treatment.
Phew! I am relieved to this day that I never qualified for genetic testing back when I was initially diagnosed.
The specialists were only looking for the BRCA mutations back then. And that result would have come back negative.
And I would never have ventured down the genetics route again.
Finally, life was returning to normal
Fast-forward 5 years and life was finally returning to normal after my breast cancer diagnosis.
Over those five years, I had proceeded to a left mastectomy and axillary clearance and underwent six rounds of chemotherapy.
My hair had grown back, and thankfully so had my eyebrows. And I appreciated the true importance of having eyelashes after having none.
After having one boob flopping about all by its lonesome for twelve months, I opted for a prophylactic right mastectomy and embraced the liberation of having a flat chest wall.
Sweet relief. No more bras. No more bouncing boobs. I could exercise. I could run. I could do all these things without jiggly jugs.
Haha, I didn’t really. If anyone sees me running, please shoot whatever is chasing me!
But I did enjoy the freedom of not having boobs.
Four years after my cancer diagnosis I eventually decided to undergo bilateral breast reconstruction surgery.
And I immediately fell in love with my new boobs, scars included.
“My Scars Tell a Story.
They Remind Me of When Life Tried to Break Me But Failed”
Genetic testing for inherited cancer syndromes
A few months after I completed my reconstructive surgery, my medical oncologist mentioned genetic testing again as it was now included on the MBS.
I thought why not, my daughters were all in their early to mid-twenties, two of them with children of their own, so it made sense to get tested.
The genetic test requested was a BRaOVO Gene Panel.
It tested for thirteen different genetic mutations including the BRCA1 and BRCA2, which came back negative.
But in bold type at the bottom of my pathology report it read:
Conclusion: Pathogenic Variant DETECTED (CDH1: c.2100delIT)
Clinical Interpretation: The analysis performed detected a pathogenic variant in the CDH1 gene. This finding has diagnostic and clinical management implications for this patient, and their extended family. Each first-degree relative of this individual has a 50% chance of inheriting this variant. Cancer surveillance for this patient should be according to full high-risk guidelines.
Full high-risk guidelines!
Well, that sounded ominous. But what did it even mean?
Both my medical oncologist and breast surgeon were perplexed by the result and arranged a consultation with the geneticist the next day.
In the meantime, I was busily Googling “CDH1 mutation” and each search returned the same result, “only effective treatment is total gastrectomy”.
A total gastrectomy. I knew enough to know that this meant having your stomach removed.
My breast surgeon noticed what I was reading and told me to stay off Google, telling me that I wouldn’t need my stomach out and to wait until I spoke to the geneticist.
Telling me to stay off Google, yea right, fat chance!
Well, my breast surgeon mustn’t have stayed off Google either. He rang me back the next morning to inform me that after researching himself, I was correct and that I would need my stomach completely removed.
What the eff …. can you even live a normal life without a stomach?
What in the world is a CDH1 mutation?
By the time I spoke to the geneticist, I already knew having a CDH1 mutation was incredibly rare and affected only 1-2% of the population.
One to two percent. Seriously. If it wasn’t for bad luck, I wouldn’t have any luck.
The geneticist explained the scientific ins and outs of having a mutation of the CDH1 gene.
A positive test result for a CDH1 gene variant means that a person has Hereditary Diffuse Gastric Cancer Syndrome or HDGC.
Not everyone with a CDH1 genetic mutation, or HDGC, will develop cancer.
But the lifetime risk for developing diffuse gastric cancer is estimated to be up to 70% for men and 83% for women by the age of 80.
And women with a mutation in the CDH1 gene also have a 30% to 70% greater risk of lobular breast cancer by 80 years of age.
Well, tick to the lobular breast cancer box. But did this mean I was going to get gastric cancer?
E-cadherin: the missing link
The geneticist explained everyone has two CDH1 genes, one from your mum and one from your dad.
And that the CDH1 gene encodes the protein E-cadherin.
E-cadherin’s role is to help cells stick to one another (cell adhesion) to form tissue and to control cell growth and division in certain tissues.
In other words, E-cadherin is the glue that helps hold your cells together.
If one of these genes is damaged or switched off (mutated) then cancers can develop.
“a positive test result for a CDH1 gene variant means that a pathogenic (disease-causing) variant has been found. This result means that a person has HDGC Syndrome. This means that this person is at higher risk of developing hereditary diffuse gastric cancer (HDGC) and/or lobular breast cancer (ILC)“.
Oh boy, I was certainly relieved the Doc had a PowerPoint presentation to help explain all the sciency stuff with pictures and diagrams. It seriously hurt my head.
But all I could focus on were the words ‘total gastrectomy’ and ‘total removal of your stomach’.
Diffuse gastric cancer didn’t form as a solid tumour, instead, it was like grains of sand making surveillance impossible.
It now made sense why my breast cancer felt heavy and fanned out, and not solid and round like the cherry or grape images portrayed on all the brochures.
And, due to the diffuse nature of HDGC, the only effective management was a total gastrectomy from the age of 20 years old.
And I was 46.
Righto. I had all the clinical and scientific data, but what did all this mean for the rest of my family? Especially my three beautiful daughters and my adored grandchildren.
As it turns out, there is a 50/50 chance of passing the mutation to your children and cascade testing was recommended for my parents and daughters.
Cascade testing is the process of offering genetic counselling and testing to at-risk relatives of an individual who has been diagnosed with a genetic condition.
My dad tested positive first. This solved the puzzle as to who had passed on their copy of the faulty gene to me. Naturally, this ruled my mum straight out. Two carriers of a genetic CDH1 mutation cannot procreate due to the lack of cell adhesion.
Both my youngest and eldest daughters tested negative. This was an immense relief as both had children of their own which meant my grandchildren were not at risk of carrying this cancer-causing mutation.
But my middle daughter, at 25 years old, tested positive for the genetic mutation, and like me, the recommendation was for her to have a total gastrectomy.
Sigh. Guilt trip.
It was bad enough receiving this diagnosis myself, but to know I had passed this cancer-causing mutation onto my beautiful daughter who was full of energy and vitality and had her entire life ahead of her, literally and figuratively gutted me!
The decision to proceed with a total gastrectomy was overwhelming.
The lifestyle changes we would have to make would be immense and there was also the risk of complications.
But the risk of developing gastric cancer was greater.
So, we made the difficult decision to have our stomachs prophylactically removed.
No Stomach for Cancer
Surprisingly, there are certain creatures that similarly don’t have stomachs, such as egg-laying mammals called monotremes like the platypus and echidna, and also seahorses.
And now my daughter and I were going to also be part of this extraordinarily unusual group.
We both proceeded with our laparoscopic total gastrectomies with Roux-en-Y approximately nine months apart. My daughter wanted to travel and tick a few more things off her bucket list before undergoing such a life-altering operation.
Total gastrectomy with Roux-en-Y reconstruction
After my procedure, my histopathology results came back positive for signet ring cell carcinoma (SRCC) in situ. This shocked me but also reinforced that I had made the right decision to remove my stomach.
However, my daughter’s histopathology tested positive for invasive Hereditary Diffuse Gastric Carcinoma (HDGC) characterised by multiple Signet Ring Cell Carcinoma (SRCC) which had invaded the superficial lamina propria.
In the words of her surgeon, “her stomach was riddled with cancer”.
Actual pathology slide of my daughter’s diagnosis revealing multiple signet ring cell carcinoma
Knowledge is power and genetic testing saves lives
If we didn’t know my daughter carried the CDH1 mutation she would never have proceeded to total gastrectomy, and by the time she started displaying symptoms of gastric cancer, it would have been too late.
Simply put, genetic testing saved her life.
Some people don’t want to know if they carry a genetic mutation, and that is their choice, but every day I am grateful and blessed to have my daughter, as, without genetic testing, she wouldn’t be here.
And my innate feeling that I’d get cancer turned out to be correct.
Call it a ‘gut’ feeling.
This mutation had been present since my conception.
It was built into my genetic makeup and DNA.
I was fated to get cancer before I was even born.
Prevention is key
The recommended guidelines for women with HDGC is for breast surveillance with MRI from 30 years of age.
But my daughter was determined to reduce her risk of cancer further by insisting on a double mastectomy, which she underwent eight months ago with nipple-sparing reconstruction surgery at the same time.
The results are phenomenal.
If you weren’t aware she had undergone total mastectomy and reconstruction surgery, you honestly would not know.
But my daughter’s emotional roller-coaster is far from over.
There is a 50% chance of a person who carries a CDH1 mutation, whether male or female, passing the mutation to their son or daughter.
She can play Russian roulette and conceive naturally and wait 16 years to see if her child carries the same cancer-causing mutation.
Or this mutation can stop with her, and she undergoes preimplantation genetic diagnosis (PGD) in the setting of in vitro fertilisation (IVF) to prevent the familial defect from being passed to her offspring.
She isn’t even 30 years old yet, and the decisions she’s had to make over the last 3 years most people won’t make in a lifetime.
My daughter is a warrior.
And I’m proud of her every day, and I will support whatever decision she makes.
“No Stomach, No Problem”
Life post gastrectomy has been challenging. But achievable.
Now, nearly four years later, I can eat anything I want, although just smaller portions, although these too, are starting to increase in size.
But I do need to watch what I eat … for example, if I indulge in a super spicy curry, I enjoy it immensely at the time, but afterwards, I don’t venture too far from the bathroom!
I have nothing now other than a ‘drainpipe’ straight from my oesophagus to my bowel, and certain food i.e., that yummy super spicy curry makes the trip down the chute a bit quicker than other things!
The same situation with sugar – indulge, enjoy, regret. Cue dumping syndrome. Blood sugars spike, and then drop, and occasionally so do I.
My husband has found me slumped against the fridge after my blood sugars peaked and crashed, but it’s just learning to consume ‘indulgent’ things in moderation. And, if I feel faint not to venture off on my own to ‘wait it out’ in case I go down in a screaming heap.
Similarly for my beloved wine.
I now get a 100% blood alcohol hit with no stomach to filter, and I am not confident to drive even after one solitary little ole glass. If I indulge in a couple of pinot noirs, it has the same effect on me as if I have drunk the entire bottle.
So, whoops, I need to watch that one!!
Lifelong weight loss, nutrition and supplementation
Nutrition is also an issue, as is extreme weight loss. I have lost 32 kilograms since my surgery, the majority of which I lost in the first six months.
My weight has now plateaued and remained the same for over two years but maintaining muscle mass can be difficult.
And I need life-long vitamin B12 supplementation as it’s impossible to absorb B12 without a stomach.
Overall vitamin deficiency can also be a problem and I need regular blood level testing along with daily vitamin supplementation such as calcium, iron, and vitamin D.
But irrespective of having such a life-altering procedure, you can live a normal life without a stomach.
However, it does take time to work out what your new normal is.
Better than the alternative
Not having a stomach is a damn sight better than the alternative. Instead, my daughter and I are both alive, living and loving our lives surrounded by our family.
So, in conclusion, I don’t regret my decision and encourage anyone with a history of cancer to consider genetic testing as you just don’t know whose life you will save.
In my case, it was my daughter’s.
And I am forever grateful each and every day that I still have her and for that, I am truly blessed.