I have been reminded frequently on social media that October is breast cancer awareness month. My personal journey of recovery from double mastectomies 17 months ago has not been an easy one. As I reflect on the last 17 months, I can see that having mastectomies changed my life … for the better. This is my story.
Being Diagnosed With BRCA2 Gene Mutation
I was diagnosed with a BRCA2 gene mutation in February 2020. Having this mutation increases my risk of breast, ovarian, pancreatic cancers, melanoma, and in men, prostate cancer. I was just about to turn 54, the same age my mother died from cancer. The decision to have prophylactic risk-reducing surgeries was an easy one for me. I had my ovaries removed in March and bilateral mastectomies in May 2020.
Leading up to those surgeries I was anxious and extremely stressed. I lost a lot of weight because the fear of getting cancer was overwhelming. I had had all the screening available – MRI’s, CT scans, Ultrasounds and blood tests for tumour markers. Even though my tests had all come back negative there was still the fear that the surgeons would find cancer in my breasts or ovaries. This has happened to many women undergoing prophylactic surgery.
Undergoing Risk Reducing Surgeries
My surgeries were not straightforward. I had complications after both and I still live with the chronic health issues. I haemorrhaged after my mastectomies and needed further surgery twice, as well as four blood transfusions. The recovery from those surgeries lasted months because I wasn’t able to do any exercise for six months due to the risk of swelling.
Prior to those surgeries I was active and able to work. I walked my dogs 3km per day and did yoga. Unfortunately I had chronic back pain which prevented me from running and high impact exercise. I had migraines frequently and felt tired all the time. Shift work knocked me around and I felt pretty miserable a lot of the time.
Complications Following Surgeries
The first surgery to remove my ovaries uncovered a problem with my bladder and kidneys that had been grumbling along for a long time. It was a problem that I couldn’t ignore anymore and was the cause of a lot of my chronic back pain. I now have that issue under control so I actually take it as a blessing that I discovered the problem because if it had been left untreated any longer I would have been really unwell. My body had been telling me that there was something wrong for months and it took a health crisis to reveal it.
My mastectomies were meant to be a straightforward procedure. The surgeon planned to remove all my breast tissue, including the nipples, but spare the skin, and insert implants in the same procedure. The surgery went well but I haemorrhaged on the left side the next day. I lost a lot of blood, most of it collecting under the skin. The surgeon took me back to the operating theatre to stem the bleeding.
A Prolonged Recovery From My Mastectomies
The fluid that remains under the skin following a haemorrhage is called a seroma. That seroma lingered for months, becoming infected and requiring further surgery three months later. I was under strict doctors’ orders not to exercise because that would increase the risk of further seroma developing. My surgeon allowed me to gradually increase my walking but everything else was off limits.
I lost a lot of muscle tone during the six months that followed. This prevented my return to work as a Registered Nurse because I wasn’t able to fulfill my duties, which include being able to perform CPR and patient cares. I was off work for 11 months in total. I really struggled with that. My mental health deteriorated as I felt that my purpose in life was gone. My role as a nurse meant so much to me after doing it for 35 years that I felt lost without it.
Outpatient Rehabilitation After My Mastectomies
After six months of not exercising, my surgeon finally gave me permission to return to yoga. Immediately after my first yoga session I had severe muscle pain and cramps. I knew I wouldn’t be able to get my body strength back without professional help so I asked my GP for help. He referred me to an Exercise Physiologist.
I had five months of outpatient rehabilitation under her supervision. My muscles had lost so much condition that I could only improve slowly. I was in a lot of pain as my muscles regained their strength and my progress was slow. Despite this I was determined to get strong enough to return to work so I worked hard and over time regained my upper body strength. I needed to be able to perform CPR which uses multiple muscle groups in your upper body, and when I finally could do that I knew I was ready to return to work.
Building Emotional Resilience During My Recovery
I had been seeing a psychologist to help me to adjust to these massive changes in my life. I had gone from a healthy, productive member of society to someone who was too unhealthy to work. My brain was still functioning but my body had let me down. I had cried buckets of tears during those months off work and I was depressed. The psychologist has helped me to reframe my thinking, and deal with those negative feelings in a positive way. I still see her regularly because I feel that she helps me immensely.
I was able to gradually return to work in April. It was such a huge achievement to reach that goal. I never realised before how much my job meant to me. I will never take working for granted again and I appreciate that I have such a supportive boss. Because I am much fitter now than before my surgeries, working no longer knocks me around like it used to. I still get fatigued but I now make sure I have a rest instead of pushing through.
Reaching My Goal of Returning to Work
I really lacked confidence before, even though I had been nursing for a long time. My confidence grew by going through the rehabilitation process and by achieving a pass mark on a course while I was off work. I stepped straight back into my role relatively easily, and had the support of my colleagues. The confidence comes from knowing that I am strong enough to overcome major challenges. I worked hard to get my life back to normal, and I’m proud of my achievements.
Stronger and Fitter After My Mastectomies
How My Mastectomies Changed My Life For The Better
I chose resilience as my Word of the Year 2021. I wasn’t feeling particularly resilient at the start of this year because I was still in the early stages of rehabilitation and was struggling mentally. By persevering, and achieving that goal, it made me realise that I am resilient. I have continued to do the exercise regimes set for me by the Exercise Physiologist. I love the feeling of being strong and fit and I know it helps me manage my daily life better.
Even though my surgeries did not go to plan, and caused life altering issues for me, I do not regret having them done. I no longer have the fear of getting ovarian or breast cancer as my risk is reduced to less than 1%. My brother was diagnosed with Stage 4 Prostate Cancer a few months after that so I feel like I dodged a bullet. I still have to have frequent screening for melanoma and am at risk of pancreatic cancer, but on the whole my health has been greatly improved.
My outlook on life is much more positive now. I am more relaxed and rarely get a migraine which I attribute to dealing with stress better. Fortunately, I was always a homebody, and feel blessed to live in such a lovely place after staying home so much during my recovery. I also had time to spend with the people who mean the most to me, in particular my mother-in-law who passed away in May. Every cloud has its silver lining, as the saying goes.
Breast Cancer Awareness
If you would like to read more about my story, all my previous posts are listed on my resource page, BRCA Gene Mutation and Cancer Awareness. Don’t forget that October is Breast Cancer Awareness month. You may like to read these articles:
After some time out from my blog, I feel I need to write about the current situation with the Covid-19 pandemic and how it is affecting people in my local area.
Technical Issues With My Blog
I have been having some time out from my blog. Basically I ghosted Midlifestylist. There were several reasons for this, one of which is that I “broke” my website. I have been trying to fix it but to no avail. I put a new plugin on my website which does automatic backups. One of the plugin’s features is that it tidies up your photo gallery. I thought that would be a good idea because I know I have a few images on the website that I don’t use. I thought it was going to delete 10 images but it deleted almost everything.
Images are a vital part of my website because I use them to illustrate statistics and as part of my guides. I have spent a lot of time creating them. It is devastating to lose so much from my website. I attempted to restore an older version of my website from a backup file but have not been able to do it. The technical aspects of running a website have always been challenging for me because I am self taught and really have no idea what I’m doing half the time. It was the last straw for me and I had to step away from it or I would have exploded!
Tough Subject Matter
Prior to that I had been writing and recording episodes for my podcast. The subject material was always going to be tough because it is about my BRCA2 genetic mutation. The last episode was about prostate cancer, which has impacted my family in a huge way. Writing about the cancers that have affected my family, and the ones that I have a high risk of getting like melanoma and pancreatic cancer, caused a lot of emotion. That also was a deciding factor for me taking a break from my blog.
Readjusting to Work
I increased my hours at work and have been struggling with fatigue from the shift work. Because I still have frequent medical appointments to attend, and chronic health issues, I have struggled at times. I love my job and I’m so glad to be back at work. I feel very blessed to have such a supportive boss and I will never take my job for granted again. I just know that I need to maintain a good work/life balance. I am currently doing five shifts a fortnight and aim for six. I know that getting back to seven shifts is almost definitely out of the question because I was struggling with that many prior to my time off last year. I’m just happy to be back and I know it was a huge achievement to get there.
All of these factors combined lead me to taking a break from blogging. I didn’t want to just churn out anything and I felt that at times that is what I was doing. I wasn’t happy with what I was writing. I would rather write less often and with passion for the subject matter. Having a break has been good for me. I won’t be writing as often as I did before as publishing a blog piece weekly is just too difficult for me.
Border Closures Due to the Pandemic
The thing that made me decide to write again today is the current situation with Covid-19. There are some issues that I am not happy with that I would like to write about. Australia is divided in a way I never thought I’d see happen. I live in Queensland which is a lucky state to live in. Our Covid-19 numbers have always been low compared to the rest of the country and any outbreaks are quickly staunched by short sharp lock-downs. We have never seen the high numbers here, meanwhile New South Wales and Victoria to the south of us have struggled with high numbers and lengthy lock-downs.
As a result we are isolated behind an impenetrable border at the moment, not allowing anyone to enter our state at the current time. The problem with this is that, in their effort to keep Covid-19 out, our leaders have created other issues. The worst problem is that they now will not allow medical staff to cross the border. Many of the staff in hospitals, nursing homes, medical centres etc. come from Northern New South Wales. The Queensland government has deemed them to be non-essential so they are not allowing them through.
Media Coverage Does Not Reflect The Truth
The media has not picked up on the fact that they are not allowing doctors and nurses who are fully immunised through, even with a letter from management to say they are essential. The result of that is that staff are doing double shifts and overtime to cover them. Meanwhile these perfectly capable Fully Immunised staff are on full pay at home. You won’t see that on mainstream media because they are too busy covering protests and people sneaking through the border and getting caught.
I have a major issue with the media’s coverage of this pandemic. They have been the cause of the distrust that the public has towards the Covid-19 vaccines. If they hadn’t made such a big deal out of the small number of people getting reactions from the vaccines, there wouldn’t have been so much fear in the community and our vaccination rates would have been much higher. The truth is that every vaccination causes side effects to a certain number of people. The risk of getting a blood clot from the Covid-19 virus is much higher than from the vaccine. The public is given a skewed picture of the risks.
Vaccination Rates
In Australia the vaccination rollout started with nursing home patients and people who already had medical issues. The rate of vaccination complications is always going to be higher in these people than in the rest of the community. The media sensationalised the number of people having reactions which has negatively impacted the public’s view of it. The Delta variant is a huge threat to our unvaccinated population. It changed the whole picture of the pandemic. If we want to control this pandemic we need to get at least 70% of the population vaccinated ASAP.
The Pandemic Has Caused Housing Shortages
Because of our low numbers in Queensland, we have seen a huge influx of people moving here. This has impacted the supply of housing in a massive way. It is now almost impossible to rent a property in Southeast Queensland and the value of housing has risen in line with the demand. Locals are being pushed out of the market because we can’t compete with the amount that people from NSW and Victoria are able to pay. My son is moving back home because it is almost impossible to rent a property in his price range.
Desperate people are offering six months’ rent in advance, or $50 more per week on the asking price, to be able to get a house. My house has risen in value by about $300,000 in the last year. People from interstate are buying houses sight unseen so that they can move here. Lock-downs mean that people are unable to run their business – especially on the border between Queensland and New South Wales.
The Effects of the Pandemic on Business
My brother lives in northern New South Wales and he is in strict lock-down. He can’t run his business because he’s not able to travel more than 5km from home and customers can’t come to him. The Government is propping up many businesses like his with funds but many of them will still go bust. The most heartbreaking image we see on our nightly news is that of families forced to hug each other over the border barriers between our states.
A Glimmer of Hope
We had some good news today, that Northern New South Wales is ending it’s lock-down which means that there will be more freedom to cross the border. This is just for essential workers and students, which means that medical staff should be able to come to work.
There is light at the end of the tunnel for this pandemic. We are seeing other countries getting back to normal once their vaccination rates are high enough. Meanwhile, I hope all who are reading this are in good health. I would love to hear what life looks like in your part of the world, so feel free to comment below.
21 years ago Sydney hosted arguably the best Olympic Games the world has ever seen. My sons were aged 6 and 9 in 2000. We’re not normally sports fans, but the atmosphere and fun around hosting this event turned us into fans of sports such as swimming, athletics and even wrestling.
We lived in the Gold Coast and couldn’t afford to take our sons to Sydney. We were keen to experience some of the Olympic spirit, and were lucky enough to win tickets to two soccer games in Brisbane. It didn’t matter who was playing – we just wanted to experience it. That is how we ended up being in the audience of very rowdy soccer fans – especially the Brazilians!
We watched every minute of the Games on TV, and joined the crowds to see the torch relay when it passed through the Gold Coast. Some of you may remember the comedians Roy and HG – their TV show was an hilarious send-up of the Games. My sons videoed themselves doing a send-up of the show which was so cute and funny.
My sons at the Olympic Games in 2000, Jordan with the Australian Flag, Memorabilia from the Sydney Olympic Games showing the mascots
Brisbane Olympics 2032
I was so excited to hear that Brisbane will host the Games in 2032. We held the Commonwealth Games on the Gold Coast a couple of years ago. My husband and I went to the opening ceremony, and my son and I went to watch the lawn bowls. I think the Olympics will be our chance to showcase Southeast Queensland to the world, and will bring many benefits to our cities.
Memories of Our Holiday to Japan
Watching the opening ceremony of the Tokyo Olympics triggered memories of our holiday to Japan. We visited in September 2019 while the country was preparing for the Games. Some of the special effects in the opening ceremony were reminiscent of some of the unique places in Japan. There was one part in particular that may have been designed by the same company behind the Digital Art Museum in Tokyo.
Images from our trip to Japan. Feeding deer at Nara; Tori Gates at Kyoto; Digital Art Museum in Tokyo; Traditional meal near Mt. Fuji
Japan is a beautiful country, one which I hope to return to one day. They have the perfect combination of history and culture, and modern technology. We spent three weeks there, traveling only on public transport and shopping in local markets. The language barrier was the only problem we encountered and I blame myself for not learning at least basic Japanese.
I am disappointed for the Japanese people, that they won’t get the benefit of hosting large crowds. I doubt if it will be economically beneficial because they aren’t able to have a boost from ticket sales and tourism. Such a shame considering all the preparation they put into it.
How About You?
Do you have any memories of the Olympics? Maybe your city/country hosted it? Have you visited Japan? I would love to hear your thoughts.
Does anyone else love Spring cleaning? My husband and I have started our Spring cleaning a bit early this year. By the time Spring comes it’s too hot here to do it. Hence doing it in Winter.
I was out of action for the better part of a year so a lot of our housework became very neglected. I’ve been looking at my windows for months and itching to clean them as they were filthy. We’re working our way around the house cleaning windows, blinds and curtains, ceiling fans, skirting boards, fly-screens, furniture and floors. It’s a huge job but oh, so satisfying.
I’m a Domestic Goddess!
I’m a bit of a control freak with cleaning. I have never paid anyone to do it, even though at times my health has meant that I can’t do it myself. No-one else could do it to my satisfaction! I enjoy really getting in there and scrubbing thoroughly. My husband doesn’t quite do it the way I like, but I bite my tongue most of the time because I need his help with the heavier work.
He’s a perfectionist in the garden though. At times I’ve suggested we pay for someone to do our lawns or do some of the other outside chores. He would rather do it himself though, for the same reason I like to do my own cleaning. We’re our own worst enemies! I guess we like the satisfaction that comes from doing a job properly, and seeing the results of our hard work.
The Love of a Clean House
Spring cleaning will take us the good part of a month to six weeks to do this year. Phil works very long hours and I’m back doing shift work, so we only get one day a week to do it. We’re about half way through. It’s so nice to see the sun streaming through sparkling clean windows! It’s a constant battle to keep on top of it because we have three cats and a dog which means lots of fur and dirty paw prints.
Women’s Work / Men’s Work
My family growing up was very traditional, with a tradesman dad and stay at home mum. There were jobs for the girls and jobs for the boys. I didn’t mind helping mum out with the housework because I learned a lot of useful skills from her.
My first marriage was quite traditional too. The difference was that I worked and also had to do the majority of the housework. My ex-husband did a minimum of housework. He did look after the swimming pool and yard though, so when we separated I had to figure out how to do those chores.
I remember being overwhelmed by having to look after the pool and yard. I eventually became proficient with those tasks and learned how to do many tasks that were traditionally men’s work. I bought a tool kit and tackled many jobs around the house. I didn’t want my sons to lack basic skills so I taught them how to sew, cook, clean, do laundry, iron and many other skills.
When I met my second husband we realised pretty quickly that we enjoyed doing tasks together. We renovated my house and landscaped the yard together. Being with someone who you can rely on to be supportive like that is such a good foundation for marriage.
I’m curious to know how many of my readers love Spring cleaning, or whether you would rather outsource it? What jobs around the house do you pay someone to do?
Resilience is my Word of the Year 2021. I chose this word because last year I had complications from surgery that meant that I couldn’t work. I was needing every bit of courage, inner strength and persistence to work towards that goal, after suffering many setbacks. Now that it is six months into the year, I thought I would revisit my word of the year to see how I was progressing.
Gaining Strength and Cardiovascular Fitness
I reached my goal of returning to work in early April. To be able to return to work I had to be 100% capable of fulfilling my duties as a Registered Nurse. I had been seeing an Exercise Physiologist weekly since November in order to build up my upper body strength. My progress was slow because of the pain. I was deconditioned from not being able to exercise for six months so it took a long time to build my strength back up again.
I’m proud to say I have kept up my exercise program, by doing the regime three times a week. There is no way I want to lose my fitness after working so hard to achieve it. I do two different programmes which take an hour each. On the third workout I do yoga or another low impact routine. I also walk my dog for 3km per day.
Working on my strength and cardiovascular fitness has had many benefits including being able to work without lower back pain. This has meant that my job doesn’t cause pain, and is easier to do. The lower back pain I lived with for years is so much better now.
Returning to Work – Goal Met!
I started back just doing two shifts per week. At first I was really tired but my stamina has improved greatly. Next week I’m increasing my shifts to five per fortnight. Previously I did seven shifts per fortnight but I doubt if I’ll ever get back to that. I used to be permanently exhausted and get a lot of migraines, and my insomnia was terrible. I work all shifts and it changes week to week so the lack of consistency has always played havoc with my sleeping patterns. While I was off work I was in a regular sleeping pattern but that’s gone out the window now.
I’m very mindful of the need to have a better work-life balance. I don’t want my job to impact my life like it used to. The best lesson I had while I was not working was that I don’t want to work like that anymore. I may increase to six shifts per fortnight, but no more than that. I learned to be much more careful with my money so I know I can live off less income.
I am absolutely loving being back at work. I did not realise it meant so much to me until I couldn’t do it! Being a nurse is part of my DNA! It’s all I know after doing it for 35 years, with only a few months off to have my sons. I’m loving the mental stimulation, the sense of purpose, and the satisfaction I get from helping people. I hope I have another 10 or so years left in me until I’m retirement age!
Inspiration – I prioritise what is important to me, and let the rest go
Starting my Podcast
You may have noticed my blog posts have had a theme this year. I have had an inner drive to make my podcast about BRCA Gene Mutations and Cancer Awareness. I have been enjoying the challenge of trying something new. I have another three episodes left that I want to make then I’ll probably give myself a break from it. I have always wanted to write interlinked posts about cancer awareness as it is something I’m passionate about. The audio quality of the podcast is not that great. I’m more interested in getting my message out there than perfecting the quality.
One thing I find difficult is all the technical side of having a website. It’s getting neglected now that I have even less time to spend on it. I don’t have time to promote it on social media anymore so I’m not growing my audience. I would rather have an audience of regular readers even if it is low in numbers. Blogging has always been about writing, and the community of bloggers. That is why I keep finding time for it in my busy schedule. I prioritise what is important to me, and let the rest go.
Overlooking the Gold Coast beach that holds a lot of significance for my husband
The Importance of Family
My mother-in-law passed away at the beginning of May. I’m no stranger to grieving, having lost both parents and my sister, but my husband had never been through it. The family has united in our support for each other. We make sure my 90 year old father-in-law has regular visits to check in on him. We all have our bad days but that’s to be expected. Overall we’re doing fine.
My husband and I had a short staycation last weekend because we felt like we needed time to reconnect. We spent time visiting the area that he grew up in. Nearly every photo of him when he was a boy was at the beach so I wanted to see where his mum took him. We are planning to spread her ashes in the ocean close to there when the time is right. We shed a few tears and really felt her presence that day.
The pandemic has once again stuffed up travel plans. An outbreak caused lock-downs and forced my in-laws to cancel their holiday. One of my nieces is stuck in Sydney, unable to return to Queensland. It’s a reminder that this is not over yet. Life won’t be back to normal for a long time.
Inspiration – If I Set My Mind to Something, I Can Do It
Improving my Mental Health
Last year I began seeing a psychologist to help me to deal with the emotions that came from coping with my health issues. I have continued to see her because I find my mental fortitude is so much better due to it. I have definitely needed it for grief counseling this year.
To summarise, I feel that resilience was a very good choice for my Word of the Year. I have needed resilience to cope with returning to work and grieving my mother-in-law. Resilience has helped me maintain my fitness by exercising even when I don’t feel like it. And resilience has helped me to deal with all the negative emotions I had during my recovery – self doubt, low confidence and self pity.
I have a lot more confidence now that I have achieved my goal. I feel that if I set my mind to something, I can do it. I can see how far I have come since this time last year. I definitely don’t take things for granted like good health, my job, and my family. I’m so much happier for it too.
This is a transcript of Episode 5 of the BRCA Gene Mutation and Cancer Awareness podcast.
Intro
Welcome to the BRCA gene mutation and cancer awareness podcast. I am Christina Henry of Midlifestylist.com. I am a Registered Nurse with a BRCA2 gene mutation. My podcast will raise awareness of BRCA 1 and 2 gene mutations and their link to an increased cancer risk. BRCA gene mutations affect males and females equally, but there isn’t a lot of awareness in the community of the cancers that male carriers are at risk of. My podcast aims to change that. I will also discuss other topics of interest such as genetic counselling and testing, cancer screening and prophylactic surgery. If you would like to know more about BRCA 1 and 2 gene mutations, this podcast is for you. Thanks for joining me.
The Link Between BRCA Gene Mutations and Pancreatic Cancer
The third most common cancer associated with a BRCA1 or 2 gene mutation is pancreatic cancer. Pancreatic cancer is the fourth most common cause of cancer death in the US and Australia, and has the worst five year survival rate (<9%).
A family history of pancreatic cancer is found in 5-10% of pancreatic cancer patients. Of the known genetic mutations involved in familial pancreatic cancer, BRCA1 & 2 are the most common. BRCA2 mutation carriers have a 3.5 fold risk of developing pancreatic cancer. The risk associated with BRCA1 is unclear – some studies suggest a 2.2 fold risk, others say there is no increased risk.
Currently surgery is the only curative measure, but only 15-20% of patients are diagnosed with resectable disease. Even if the cancer is resected, 75% of patients will experience disease recurrence within 5 years. These statistics are a grim reality for people with BRCA gene mutations, and one that I find very concerning. Because my father died from pancreatic cancer, I am at high risk.
Pancreatic cancer facts. 4th most common cancer death in Australia and USA. Worst 5 year survival rate
Risk factors associated with BRCA1 and 2 gene mutations:
As well as a mutation in the BRCA1 or 2 gene, certain risk factors can increase the likelihood that cancer will develop. For pancreatic cancer, an increased risk is associated with the following:
cigarette smoking,
chronic pancreatitis,
diabetes (especially type 2 diabetes),
liver cirrhosis,
obesity,
age,
being male,
exposure to certain chemicals used in metal refinery,
stomach infection with Helicobacter Pylori (which causes stomach ulcers)
and a high fat, meat based diet.
A decreased risk is associated with a low-fat, high fruit and vegetable diet and quitting smoking. The single environmental factor associated with pancreatic cancer is cigarette smoking, which is estimated for approximately 25-30% of all pancreatic tumours.
High risk patients are first degree relatives of someone with pancreatic cancer, have Reutz-Jeghers Syndrome, or have mutations in BRCA1 or 2, ATM, PALB2, or Lynch Syndrome genes, and have first or second degree relatives with pancreatic cancer.
The third most common cancer associated with BRCA gene mutations is pancreatic cancer.
We do have an opportunity to reduce our risk of many types of cancer, but not pancreatic cancer. Lifestyle choices can help but we can’t have risk reducing surgery. Watch for symptoms such as the following:
Symptoms of Pancreatic Cancer:
Loss of Appetite
Fatigue
Abdominal and mid-back pain
Changes in bowel movements
Unexplained weight loss
New-onset diabetes. Symptoms of diabetes may include excessive thirst, a high or low blood sugar level, increased urination or blurred vision
Jaundice – yellow skin or eyes
Itchy skin
Enlarged gall bladder
Changes in taste
Blood clots.
Like ovarian cancer, the symptoms are vague and may indicate a number of health issues. Early stage pancreatic cancer rarely causes symptoms which makes it difficult to diagnose. Seek medical attention early if you suspect that something is wrong. Be an advocate for your own health, be proactive with screening and maintain a healthy lifestyle.
Screening for Pancreatic Cancer
At present there is no clear consensus on the optimal screening method for pancreatic cancer, the age to initiate and stop screening, how often to screen and the ways to treat patients with a tumour. Screening may include MRCP (magnetic resonance cholangiopancreatography), or an endoscopic ultrasound. The American College of Gastroenterology recommends that high risk patients should be screened yearly. They recommend a EUS and/or MRI beginning at age 50 or 10 years prior to the earliest age of pancreatic cancer diagnosis within the family.
The Pancreatic Cancer Action Network (PanCAN) recommends that all pancreatic cancer patients receive genetic testing for inherited mutations as well as genetic counseling. For those with cancer, BRCA mutations can inform and improve treatment. Cancer cells with a BRCA mutation may respond particularly well to a certain type of chemotherapy as well as a targeted therapy called PARP inhibition. The PARP inhibitor Olaparib is recommended for patients with metastatic pancreatic cancer who have a BRCA1 or 2 gene mutation and whose tumour previously responded to a platinum based chemotherapy.
Pankind, the Pancreatic Cancer Foundation of Australia, is currently running a campaign because they aim to triple the survival rate of pancreatic cancer by 2030. Through funding research, particularly into screening for pancreatic cancer, Pankind hope to improve the current outcomes for patients and their families. Medical research is the single most important factor improving patient survival. I will add a link in my blog to Pankind’s website where you can donate if you wish.
The Australian Pancreatic Cancer Genome Initiative is conducting one of the research studies currently in Australia. The trial is using EUS (endoscopic ultrasounds) to screen people at high risk of pancreatic cancer. Hopefully the results of this research will improve detection and survival rates for people with pancreatic cancer. There is a link to this information on my website.
Purple ribbon for pancreatic cancer awareness.
My Experiences With Pancreatic Cancer Screening
Unlike breast and ovarian cancer, I can’t have prophylactic surgery to reduce my risk of pancreatic cancer. My best bet is to have screening which will hopefully catch it at its earliest stages, when it is able to be resected. My gastroenterologist has recommended a MRCP, possibly alternating with EUS. Unfortunately when you have a BRCA2 gene mutation the fear of cancer is always there, but being proactive with screening will hopefully be enough to keep it at bay.
A couple of weeks ago I had an MRCP which is an MRI of the pancreas and surrounding areas. MRIs are horrible. I’ve had breast MRIs in the past which are extremely unpleasant as you need to lie still while lying face down with your breasts dangling through holes cut out of a board which applies pressure to your upper chest. Your arms are extended above your head in such a way that your shoulders cramp up but you aren’t allowed to shift position to relieve the pain, or even breathe deeply.
I thought the MRCP would be a bit easier than the breast MRI because I’d be lying on my back. But it wasn’t. My arms were still extended above my head for the entire torturous 30 minutes. The fear of stuffing the test up and having to redo it caused an anxiety attack and claustrophobia. My muscles in my neck, shoulders, arms and upper back went into spasm. Next time I’m requesting a sedative as every time I have one my reactions get worse.
Waiting For Test Results
Waiting for the results never gets any easier. The reality of having a BRCA2 gene mutation is that we need frequent screening, most of it painful, unpleasant and sometimes scary. Last week I had a gastroscopy and colonoscopy. The prep for that was brutal! Thankfully those tests came back clear as well.
When you’re cleared of cancer once again it’s almost a euphoric feeling. It’s hard to describe the constant underlying anxiety of having a gene mutation that increases your risk of cancer. At times I wonder if I’m a hypochondriac or overthinking this, but my doctors reassure me that my paranoia is justified. The main reason I decided to have prophylactic surgery to remove my breasts and ovaries, was to reduce my risk of cancer and to avoid these stressful and painful screening tests. My risk for ovarian and breast cancer is now less than the general population.
My Father’s Pancreatic Cancer
Watching my dad die of pancreatic cancer was soul destroying. He had been unwell for years, mostly due to prostate cancer. He needed an indwelling catheter to drain his bladder but it kept getting blocked with blood clots. This lead to frequent hospital admissions and very poor quality of life. He also had many urinary tract infections. During one of those hospital stays he had a CT Scan which showed his pancreatic cancer, quite by chance.
Dad’s health declined rapidly and he lost a lot of weight as the pancreatic cancer wrecked havoc with his appetite. His oral fluid intake was restricted because his sodium level was dangerously low. This meant he couldn’t enjoy two of his favourite things, food and alcohol.
During his final hospital stay he was hallucinating because of the low sodium. His hands were swollen and painful because he couldn’t take his gout medication. He was praying constantly that God would end his suffering. To see my strong dad in this way was heartbreaking. It took just seven months for pancreatic cancer to take him.
Dealing With The Emotional Side of Cancer Screening
My fear of getting pancreatic cancer is justified because it’s hard to diagnose in the early stages and has one of the highest mortality rates. Being aware of this means I will do the screening, no matter how much I hate it. During the long, sleepless night before the colonoscopy I cried for my dad. It’s so unfair that this genetic mutation has ripped my family apart.
My way of dealing with days when I feel upset or depressed, is by keeping focused on maintaining my health. I keep searching for information about BRCA gene mutations because there are currently many research studies being done worldwide. The knowledge I gain will help me to stay as healthy as possible and hopefully minimise my risk of cancer. Take a look at my resource page as I have included links to many of these sources.
My next episode will focus on prostate cancer and its link to BRCA gene mutations. As I have mentioned already, my father was a BRCA gene mutation carrier who had prostate cancer as well as pancreatic cancer. My grandfather passed away from prostate cancer and my brother was diagnosed with Stage 4 Prostate Cancer last year. During my nursing career I have worked in urology wards and have cared for many men with prostate cancer. I look forward to sharing this information in my next episode.
Outro
Do you want to learn more about BRCA gene mutations and cancer awareness? Find me at Midlifestylist.com where you can read about this and living a healthy lifestyle. Please subscribe to the podcast so that you don’t miss an episode. If there is a topic you would like me to talk about you can contact me via Midlifestylist.com. Thank you for listening.
Welcome to the BRCA gene mutation and cancer awareness podcast. I am Christina Henry of Midlifestylist.com. I am a Registered Nurse with a BRCA2 gene mutation. My podcast will raise awareness of BRCA 1 and 2 gene mutations and their link to an increased cancer risk. BRCA gene mutations affect males and females equally, but there isn’t a lot of awareness in the community of the cancers that male carriers are at risk of. My podcast aims to change that. I will also discuss other topics of interest such as genetic counselling and testing, cancer screening and prophylactic surgery. If you would like to know more about BRCA 1 and 2 gene mutations, this podcast is for you. Thanks for joining me.
Melanoma – Are You At Risk?
Many people do not realise that a BRCA 2 gene mutation increases your risk of melanoma. This episode is to raise awareness of melanoma, not just for BRCA2 mutation carriers, but for the general public as well.
Australia has one of the highest rates of melanoma in the world, with one person diagnosed every 30 minutes. Melanoma is the deadliest form of skin cancer, and the most common cause of cancer in 15 to 39 year olds. It is the third most common cancer in Australian men and women.
In the US, the lifetime risk of getting melanoma is about 2.6% (1 in 38) for whites, 0.1% (1 in 1000) for Blacks and 0.6% (1 in 167) for Hispanics. For BRCA2 carriers, the risk is 3-5% in both males and females.
Family History of Melanoma and Genetic Mutations
Familial malignant melanoma is a genetic condition, usually identified when 2 or more first degree relatives such as a parent, sibling and/or child have a melanoma. About 8% of people diagnosed with a melanoma have a first degree relative with one. About 1-2% have 2 or more close relatives with a melanoma. My family is high risk because my sister, brother and son have all had melanomas.
Two genes have been linked to familial melanoma – CDKN2A and CDK4. A mutation in either of these genes increases your risk of melanoma, and may also increase your risk of pancreatic cancer. Another gene, MC1R, is important for regulating pigment in the body. Variations in this gene have been associated with freckling and red hair, and an increase in the risk for melanoma.
Xeroderma Pigmentosum (XP) is a rare disorder in which people have a mutation in a gene needed for repair of UV radiation induced DNA damage. People with XP have an extremely high rate of skin cancer, including melanoma. Scientists believe that there are other genes not yet identified that also increase the risk of melanoma.
Genetic Testing
Genetic testing for mutations in the CDKN2A gene is available. However, genetic test results are unlikely to change care for people who have had melanoma or people with a strong family history of melanoma. That is why the genetic counselor told me that there is a high probability of a genetic link for melanoma in my family, but there was little point in doing further testing to find it. It wouldn’t alter the fact that my family needs ongoing screening.
Interview with Jordan Hill, Melanoma Survivor
Christina Henry, Interviewer with Jordan Hill, Melanoma survivor
My special guest today is my son Jordan Hill, who was diagnosed with a melanoma at age 24. Welcome to my podcast, Jordan.
Jordan: Thanks for having me.
Christina: Can you tell us how you came to be diagnosed with a Stage 1 Melanoma at the age of 24?
J: Well for several years you got me to go and have skin tests as a family and there were two or three doctors before we finally landed on this one at Mermaid Beach Practice. They didn’t see anything wrong with this particular dot I had on my hand. It started as a freckle. Over time it started growing black and started looking really nasty. I had random people come up to me in shops (because I work at Officeworks). I had customers pointing out to me “Oh that doesn’t look very good” when I pointed out an item that they noticed on my hand and they commented on it. I guess I never thought anything of it and for about two or three years it was like that.
It was slowly getting worse and looking more black and violent. So you started getting more checks done because we were still figuring out what it was. So we had two skin doctors check and neither of them found anything wrong with it. They just said it was nothing, and that it was no concern. But the third skin doctor took one look at it and he zoomed up on it with this little device and it looked really gnarly. So he took a biopsy out of it. Within a few days I got a phone call and he said it was a Stage 1 Melanoma.
C: What were the signs that this was not just an ordinary mole? What did it look like compared to other moles?
J: Well, all freckles are pretty faded and brown looking but this one started out as just a regular freckle but then over time it just went black and it was this black dot and it kept growing and growing.
C: And it was jagged on the edge too wasn’t it?
J: Yea
C: I’ll put a photo up on my website Midlifestylist.com of how that melanoma looked.
What did the doctor actually do?
J: Well he gave me a little local anaesthetic on the hand and he cut a little incision out of it. It wasn’t so deep. It was only a little deep. What I noticed when he had cut it out, there was still a tiny little black dot there. When it was healing over the next week it wasn’t healing very well. It was kind of struggling. It was very “pussy” and I had to go back and get it cleaned. But when it came back as a Stage 1 Melanoma I noticed that there was some black still there and so we needed a Plastic Surgeon to fully remove it and dig deeper into the tissues to make sure that it was all gone.
C: So Jordan actually rang me. I was on holiday in New Zealand and because, luckily I’m a nurse and I work with Plastic Surgeons I rang and made an appointment for Jordan to see a Plastic Surgeon that I knew. He got him in the following week and within a week Jordan had plastic surgery to remove this. They had to take a full thickness to remove the whole melanoma. It’s about the size of a 50 cent piece and they had to take a graft from beneath his arm to cover that deficit. So that can’t be just any doctor. It had to be a plastic surgeon. Once they did that the margins were clear.
My son’s melanoma before it was removed
So what kind of recovery did you need after that?
J: It was a complete month off, not doing much with your hand basically. They had a cast and bandaged up and everything. I couldn’t move it. I couldn’t do the things I usually do like work and play drums and guitar and all that.
But it gave me a lot of time off to think about how lucky I was to survive cancer basically. And even though it didn’t look too threatening at the time, when I found out what it really was and what it entailed, and what it would have meant if it kept growing, because they said thankfully it was a very slow growing melanoma, if I’d left it for another year or two it would have gotten to a Stage 3 or 4 which is the deadly one where it spreads through the body, and I could have been dead basically by now. So in that recovery time it gave me a second look on life and I feel much more grateful to be here because of that.
Jordan’s hand showing the scar from the skin graft after his melanoma was removed
C: Yea, it changes you hey?
J: It does. And because of that I now get my skin checked every six months and it doesn’t bother me. I just go do it. Even though the skin doctor I regularly go see says “oh, you don’t have to come back for another year or so” I just go “No I still like to come every six months because I just like to be on top of it no matter what.” It doesn’t phase me and it just makes me much happier to know that I’m free of any cancers on my skin.
C: I took my kids to see the skin doctor from the time that they were really young and I know that that’s not a typical thing for people to do with children but because I work in that field of plastic surgery I’m quite paranoid about melanoma and skin cancer. But also Jordan has very fair skin and red hair and that alone puts him at risk. Plus the fact that his aunty and uncle both had melanomas.
J: The thing was when I was about 10 or 12 I had cousins over for the day. We were in the pool all day in the sun and I had no sunscreen on, no shirt. I remember how brutally bad I got sunburnt over my back. That night you were just there putting all this cream and stuff on and it was the most painful …
C: I put burn cream on but it was blistered . I probably should have taken him to the Emergency Department at the hospital because he had second degree burns all over.
J: Absolutely and I’ll never forget how brutally painful that was.
C: I always kept the Silversadine Cream which is a burn cream on hand. At the moment we use Solugel for any little sunburn or anything and it takes the redness away straight away.
What precautions do you take now to protect your skin?
J: Well just going back to when I was sunburnt those many years ago I always from that point on always made sure I had some sunscreen or had jumpers on or hats just to make sure I’m as sun protected as possible. If I was out in the open I’d try and find any shade possible and just try and make sure I was as under cover as possible, and not so much out in the sun. But I think that it’s also too that the Australian sun is just much more stronger. I went to Europe a few years ago and I barely got burnt and I was out in the sun almost every day. I still put sunscreen on and everything and you can still get burnt but I find that in Australia the sun’s way more stronger and you can burn so easily.
I can just walk out on the beach and within ten minutes I’d be burning and you could see I’m burning right in front of you. But we also figured out too that, because I haven’t been really that sunburnt over the years, we figured out that the melanoma developed on the back of my hand from driving. From the sun beaming in through the window. You wouldn’t really think much of it but it makes sense. That would be the only possible reason that I got the melanoma on the back of my hand.
C: What advice would you give to other people?
J: Definitely get your skin checked every couple of years at least. If you’ve got fair skin like me or especially red hair at least once a year or two. Just make sure you check your skin often. If you notice weird bumps or weird changes to your freckles or anything just go and get them looked at. It’s not worth just pondering around it because I never thought anything of the one I had and you know, I’d just get straight on to it. I wouldn’t beat around the bush.
C: And you’ve got to go to an actual skin doctor because they’re trained to look properly.
J: They grab all these magnifying glasses and all this special equipment to look deep into any freckle or any mole and they can see all these different colours and they can tell whether it’s cancer or not straight away.
C: They do mole mapping and he writes it all into his computer, any moles that he’s had a look at. The one that we found that actually identified Jordan’s melanoma, we just stick with him. We go to the same doctor every six months and he knows us. He knows our skin. He remembers lesions. I point out everything, but I also check my skin regularly, more than once a week. I’d say it was virtually every day. I’m always having a good look on my skin.
J: It doesn’t take that much effort to do it.
C: Yea, but there’s areas that you can’t see yourself like your back and your scalp.
J: Yea, that’s exactly why you go and get your skin checked. It doesn’t matter about age as well, being 24 I didn’t think it would be a melanoma. As a kid growing up you go to the doctor’s and you see all the skin charts with all the markings and stuff and you think it’s just what older people get and people in their 40s or 50s or older. And while that is true, look, I was 24. I never saw it coming.
C: So that’s our message, to get your skin checked. It doesn’t take long as Jordan said. It’s a ten minute visit to your doctor regularly. Especially if they’ve found any type of skin cancer in your family, that’s important: to go get checked.
Thank you Jordan, that was really great.
J: No worries.
Screening for Melanoma
Anyone with a parent, sibling or child who has had a melanoma should be carefully monitored for melanoma themselves. Skin examinations should be performed every 3 – 6 months by a specialist skin doctor to monitor any pigmented lesions. It is important to watch moles closely for any signs of change in shape, size or colour.
Dermatologists may photograph moles, known as mole mapping, or view moles with a hand-held device called a dermatoscope. This will assist the doctor to identify changes over time. Any suspicious moles or other skin changes should be removed by a doctor so that the tissue can be analysed under a microscope.
Children should begin screening by age 10. Regular self-examinations should be done monthly to look for skin changes.
What to Look For
Moles are usually round or oval, an even coloured black, brown or tan spot on the skin. They usually stay the same for many years. Almost all moles are harmless, but any changes may indicate a melanoma is developing. Look for any changes in shape, size or colour, or new moles on your skin.
Watch for the following:
A – Asymmetry: One half of the mole does not match the other;
B – Blurred: The edges are irregular, ragged, notched or blurred;
C – The colour is not the same all over and may include different shades of black or brown, and sometimes have patches of pink, red, white or blue;
D – Diameter: The spot is larger than 6mm (4 inches) across, although some melanomas are smaller than this;
E – Evolving: The spot is changing in size, shape or colour.
The ABCDEs Of Detecting Melanoma: Asymmetry, Border, Colour, Diameter, Evolving
Other warning signs are:
A spot that doesn’t heal;
Spread of pigment from the border into the surrounding skin;
Redness or a new swelling beyond the border of the mole;
Change in sensation such as an itch, tenderness or pain;
Change in the surface of the mole: scaliness, oozing, bleeding, or a lump.
Warning Signs of Melanoma
Show your doctor any changes such as these. A yearly (six monthly if you are high risk) specialist skin check should be done because they will thoroughly check all the areas you are unable to see yourself such as your scalp and back. Melanomas can appear in unusual places such as inside your mouth or on the coloured part of your eye, so it is important to show your doctor anything that you are concerned about.
Avoid Skin Exposure to Ultra Violet Rays
People who are high risk should avoid sun exposure and take steps to protect themselves when outdoors. Man-made UV rays such as tanning beds should be avoided. They are banned in Australia but may still be available overseas.
Avoid manicures and pedicures that use UV rays to set the nail art. They have been known to cause melanomas in the nail bed. The curing lamps used to dry shellac and gel during manicures expose nails to UV rays. The UV rays you receive during a manicure are brief but intense, four times stronger than the sun’s UV rays. Only 1.4% of melanomas occur on finger or toe nails. Watch for any darkening of skin around the nail, infections or nails lifting, sensitivity or nodules under the nail.
Protect Your Skin From the Sun
Remember to use sunscreen with a high SP factor, preferably 50 plus. Cover all exposed skin while in the sun and remember you can still get burnt in the winter. Wear a hat and avoid the sun during the hottest part of the day. Protecting your skin from the sun helps you to avoid UV damage which may cause wrinkling and age spots, and expose you to developing melanoma and other skin cancers.
Thank you again to Jordan Hill for telling his story of how he was diagnosed with a melanoma at the age of 24. Photos and more information will be on the website.
My next episode will focus on pancreatic cancer. Many people, even those with a BRCA 1 or 2 gene mutation, are unaware of the increased risk of pancreatic and other cancers. Because my dad passed away from pancreatic cancer it is a subject dear to me. Thankyou for listening.
Outro
Do you want to learn more about BRCA gene mutations and cancer awareness? Find me at Midlifestylist.com where you can read about this and living a healthy lifestyle. Please subscribe to the podcast so that you don’t miss an episode. If there is a topic you would like me to talk about you can contact me via Midlifestylist.com. Thank you for listening.
If you enjoyed this post please share on social media. You may also like to read:
Welcome to the BRCA gene mutation and cancer awareness podcast. I am Christina Henry of Midlifestylist.com. I am a Registered Nurse with a BRCA2 gene mutation. My podcast will raise awareness of BRCA 1 and 2 gene mutations and their link to an increased cancer risk. BRCA gene mutations affect males and females equally, but there isn’t a lot of awareness in the community of the cancers that male carriers are at risk of. My podcast aims to change that. I will also discuss other topics of interest such as genetic counseling and testing, cancer screening and prophylactic surgery. If you would like to know more about BRCA 1 and 2 gene mutations, this podcast is for you. Thanks for joining me.
You Just Found Out You Have a BRCA Gene Mutation – what next?
You have had your appointment with the Genetic Counselor, as discussed in the last episode. After an anxious wait, you are notified, usually by mail but sometimes by phone, that you have a BRCA 1 or 2 gene mutation. You are probably reeling, and experiencing the full gamut of emotions like shock and grief.
My first thought was for my sons who are aged in their 20s. Because they have a 50% chance of inheriting it from me, I thought I had given them a death sentence. If you don’t have children but want them one day, you will be realising that starting your family now has become that much more complicated.
It is important to remember that a diagnosis of BRCA1 or 2 gene mutation does not mean you will definitely get cancer. It does increase your risk, but other factors need to be considered as well. Genetic testing tests for one mutation only. Someone is either positive or negative – that cannot change over time.
Results will be one of the following:
Positive meaning the person carries the gene mutation.
Negative meaning they do not have that particular gene mutation. It does not rule out mutations in other genes. Breast and other cancers can still occur because most breast cancers are not hereditary.
Ambiguous or uncertain, meaning that a mutation has been found but it is not known whether that mutation has any affect on the chances of developing breast cancer.
If you are diagnosed positive of a BRCA1 or 2 or PALB2 gene mutation, you have a higher chance of developing breast cancer, and are more likely to develop it at a younger age. Estimates vary depending on the source. Women with BRCA1 or 2 mutation can have a 45-65% chance of being diagnosed with breast cancer before age 70. PALB2 mutations have a 33% chance.
You can reduce your risk by doing the following:
Have regular health checks including examining your breasts monthly including if you are a male. Early detection of breast cancer is of utmost importance. A screening plan will be developed by your doctor including more frequent screening starting at a younger age. You should have regular skin checks as well. In my case it is six monthly because of the high risk of melanoma in my family.
Regular screening for females includes 6 monthly to yearly mammograms, ultrasounds and MRIs of your breasts. Males should be screened for prostate cancer as well.
Reducing Your Risk
Your doctor may prescribe risk reducing medications.
An option many females are choosing is risk reduction surgery to remove breasts and ovaries. Because the chances of developing breast cancer are so high, many women undergo prophylactic surgery to remove the breast tissue before cancer has a chance to develop. This is called a bilateral prophylactic mastectomy.
Removal of ovaries and Fallopian tubes may also be done because this can reduce breast and ovarian cancer risk. This procedure is called bilateral salpingo-oophrectomy. Prophylactic surgeries reduce the risk by about 90% but they can’t eliminate the risk entirely. Prophylactic surgery has other implications. It can mean that fertility is affected if the ovaries are removed.
Making Decisions is an Individual Choice
All of these choices should be weighed up before you make any decisions. Getting advice from medical professionals with experience in genetic risk is important. It is also an individual choice – what is right for one person may not be right for someone else. Results can impact many life decisions. A genetic counselor can help you to look at the implications of your results.
The choices available to you may be limited to what is available in your area. You may not live near to specialists who will do prophylactic surgery like mastectomies. There has also been a delay in surgeries because of the pandemic. Many hospitals are only able to treat patients with cancer at the present time, not high risk patients. Because of social distancing some screening clinics have been affected in some areas. This could mean delays which is really frustrating but it’s just one of the effects that the pandemic is having on life as we know it.
My advice is to do your own research. Read as much information as you can. Be informed so that when you do see medical specialists you have a good idea of what to ask. Join support groups as well. I learn a lot from other people in my position. Links to support groups can be found on Midlifestylist.com.
What Influenced My Decisions
Your decisions will be based on your individual circumstances. For example, ten years ago I wouldn’t have done prophylactic surgeries because I was a single parent and did not have the means to have time off work or pay for the surgeries. I had just been through some major heart issues so I was not up to going through anything else at the time. When I was diagnosed with BRCA2 last year my sons were adults, I had a supportive husband and was more financially secure. I was also in my 50s so I felt the pressure of not wanting to delay it any longer. I had had nearly every member of my family diagnosed with cancer so the fear of cancer was foremost in my decisions.
The Impact Of A Positive Result on Other Family Members
Getting a positive result can also impact other members of your family. I talked to my sons about what the implications of my positive result meant for them. They both want children one day so their decisions around that would be affected if they also tested positive. I told them that they would need to tell their future partner and that some women might not want to take the risk of having children with the gene mutation. My sons’ main concern at the time was for me. And naturally they were anxious about inheriting the gene mutation themselves.
I told my siblings and nephews very shortly after I told my sons. My siblings have a 50% chance of inheriting BRCA2, and their children had a 25% chance based on my diagnosis. I have not yet told many of my cousins who have a 25% chance of having the mutation. This is because the last year has been very difficult for me due to multiple surgeries and a long recovery. Now that I am past the worst of it I will let them know. The cousins I have discussed it with so far would rather not know – many of them are head-in-the-sand types. That is their choice but they also have a right to know so that they can research it and decide for themselves.
If you have recently been diagnosed with a gene mutation you might already have been in contact with a Family Health Centre. You will probably receive referrals to a breast surgeon and gynaecologist. You may feel like you are being rushed into making decisions. Don’t rush your decisions, and get second opinions if you need to.
Worst case scenario and your diagnosis will come as a result of a cancer diagnosis of yourself or a close family member. My heart goes out to you and it may seem superficial for me to say, but I do know how you feel. It’s gut wrenching so I wish you all the best for the future.
Further Information
My next episode will focus on melanoma. Many people, even those with a BRCA 1 or 2 gene mutation, are unaware of the increased risk of melanoma and other cancers. My son Jordan was diagnosed with a melanoma at age 24. He will be coming to the studio to talk about melanoma and share some important information that everyone should be aware of.
For further information about BRCA gene mutation and cancer awareness, go to my website Midlifestylist.com and search BRCA. You can also read about my personal journey with BRCA2 and prophylactic surgery on the website. A transcript of this episode is available on the website. You can contact me via Midlifestylist.com
Outro
Do you want to learn more about BRCA gene mutations and cancer awareness? Find me at Midlifestylist.com where you can read about this and living a healthy lifestyle. Please subscribe to the podcast so that you don’t miss an episode. If there is a topic you would like me to talk about you can contact me via Midlifestylist.com. Thank you for listening.
Welcome to the BRCA gene mutation and cancer awareness podcast. I am Christina Henry of Midlifestylist.com. I am a Registered Nurse with a BRCA2 gene mutation. My podcast will raise awareness of BRCA 1 and 2 gene mutations and their link to an increased cancer risk. BRCA gene mutations affect males and females equally, but there isn’t a lot of awareness in the community of the cancers that male carriers are at risk of. My podcast aims to change that. I will also discuss other topics of interest such as genetic counseling and testing, cancer screening and prophylactic surgery. If you would like to know more about BRCA 1 and 2 gene mutations, this podcast is for you. Thanks for joining me.
Welcome to episode 3: How to be tested for BRCA gene mutation
In the last episode I discussed how I came to be aware of the BRCA2 gene mutation in my family, and how I came to be tested. I am now going to explain how to have genetic testing if you suspect that you have a genetic mutation in your family.
The first step is to look at your family’s health history. In particular, ask yourself the following questions:
Have any of your blood relatives had cancer?
What types of cancer were they?
How old were your relatives when they developed cancer?
Are You at High Risk of a BRCA Gene Mutation?
A person is considered high risk of having a BRCA mutation if they have a family history of:
Breast cancer diagnosed before the age of 50;
Male breast cancer at any age;
Multiple relatives on the same side of the family with breast cancer, particularly first degree relatives (mother, sister, daughter);
Multiple breast cancers in the same woman, meaning breast cancer developing in both breasts over time or at the same time;
Both breast and ovarian cancer in the same woman;
A history of ovarian cancer in the woman’s family, especially if a first degree relative;
Ashkenazi Jewish heritage (they have a 2.5% chance of inheriting a BRCA mutation compared to 0.25% in the general population).
I have written an article on Midlifestylist.com called Know Your Family and Personal Health History. I included a free health history form with a family tree so that you can get an idea of how to document your family’s health history. It is important to look at both the males and the females as a BRCA gene mutation can be passed down through either line.
Genetic Testing at a Family Cancer Clinic
Genetic testing is free in Australia if a genetic mutation has been found in your family. You will need your relative’s name and where they were tested. You may have been given a copy of your relative’s results, or a letter from their genetic counsellor saying what genetic mutation they have.
Free genetic testing may be available if there is a strong family history of breast or ovarian cancer. The genetic counsellor has to estimate that you have at least a 10% – 15% chance of having a faulty BRCA 1 or 2 gene in the family. A relative that has had breast or ovarian cancer would need to be willing to have genetic testing.
Publicly funded testing is only available through a Family Cancer Clinic in Australia, not via a GP. Family Cancer Clinics are based throughout Australia and are covered by Medicare. Your GP will need to refer you to the clinic for Genetic Counselling first.
Referral for genetic testing at the Family Cancer Clinic will depend on whether the Genetic Counsellor assesses you and feels that there is a strong suspicion of a genetic mutation based on your family history. If you elect to pay privately it costs approximately $2000, which is not covered by Medicare or private insurance.
Private Genetic Counselling
Genetic Counsellors are also available privately in some cities. My Genetic Counsellor is a medical consultant that I saw privately. It did cost me to see him, but my actual test was free. He saw my sons privately as well, and tested them free of charge. I elected to see a private Genetic Counsellor because I had seen him previously and knew him professionally (I am a nurse).
Genetic testing is done via a blood test. My sons and I had two separate blood tests 15 minutes apart. The results were available after a few weeks.
Why You Should Avoid Do-It-Yourself Genetic Tests
I have read about do-it-yourself genetic tests available by mail order. I strongly recommend that you don’t go down this route for a couple of different reasons. First they may give you a false positive or a false negative. It’s more likely to be a false positive which could lead to an anxious reaction for nothing.
Secondly, having the discussion with the genetic counsellor is extremely important. They are able to explain what your risks are, based on your family history. It is not the same for everyone. Some families have a high number of prostate cancer cases, but a low number of breast cancer cases. That is the case in my family.
The implications of a diagnosis of a BRCA 1 or 2 gene mutation need to be carefully considered before you have testing. This can only be explained by a medical professional trained in this field. Please don’t take any shortcuts – I strongly advise you to get a referral to a Genetic Counsellor for these reasons.
Further Information
If you would like to read further about this, I have a link on Midlifestylist to Pink Hope. They have an Assess Your Risk Tool on their website that can help you to work out whether you need to see a genetic counsellor or not.
I will be talking about what to do if you test positive for a BRCA 1 or 2 gene mutation in my next episode. For further information about this and cancer awareness, go to my website Midlifestylist.com and search BRCA. You can also read about my personal journey with BRCA2 and prophylactic surgery on the website.
Thank you for listening. Please subscribe to the podcast so that you don’t miss an episode. You can contact me via Midlifestylist.com
Outro:
Do you want to learn more about BRCA gene mutations and cancer awareness? Find me at Midlifestylist.com where you can read about this and living a healthy lifestyle. Please subscribe to the podcast so that you don’t miss an episode. If there is a topic you would like me to talk about you can contact me via Midlifestylist.com. Thank you for listening.
Welcome to the BRCA gene mutation and cancer awareness podcast. I am Christina Henry of Midlifestylist.com. I am a Registered Nurse with a BRCA2 gene mutation. My podcast will raise awareness of BRCA 1 and 2 gene mutations and their link to an increased cancer risk. BRCA gene mutations affect males and females equally, but there isn’t a lot of awareness in the community of the cancers that male carriers are at risk of. My podcast aims to change that. I will also discuss other topics of interest such as genetic counseling and testing, cancer screening and prophylactic surgery. If you would like to know more about BRCA 1 and 2 gene mutations, this podcast is for you. Thanks for joining me.
Being diagnosed with a BRCA2 Gene Mutation – My Story
Many of you have found this podcast through a search for BRCA. You may already follow my blog Midlifestylist.com. I have written quite a lot about my BRCA journey. But I haven’t told my story of how I was diagnosed.
I first heard about BRCA over 10 years ago. Being a nurse, I was aware of families where breast cancer affected multiple generations. I worked in a surgical ward where breast, ovarian and prostate cancer patients were cared for.
My Cousin Has a BRCA2 Gene Mutation
One of my patients happened to be my first cousin. We are from a very large family – I have about 52 first cousins, many of whom are much older than me. This cousin is almost a whole generation older – closer to my parents’ age than mine. I didn’t know her very well because she grew up in Australia, while I grew up in New Zealand.
This cousin had had a very extensive surgery prophylactically. She told me about the BRCA gene mutation – she has BRCA2. Because both her parents had had BRCA2 cancers it was unclear which side of the family the BRCA2 gene mutation came from. My father’s sister is her mother. Both her parents were deceased. Her mother died from ovarian cancer, and her father had had male breast cancer.
My cousin and I had the same breast surgeon. I had seen him because of some breast lumps that were benign. He recommended that I see a genetic counselor. At the time my only direct family that had had cancer was my mother who passed away from metastatic brain cancer, unknown primary.
My First Visit to the Genetic Counselor
After looking at my family history, the genetic counselor advised me that there looked to be no evidence of BRCA2 in my branch of the family tree. The test for BRCA at that time was very expensive. I was a single mother of two teenage boys and did not have the means to pay for testing, or for prophylactic surgery for that matter. I decided to continue regular monitoring which meant yearly mammograms and breast ultrasounds.
Over the next few years more cancer cropped up in my family – two siblings and my son had melanomas, and dad had prostate and pancreatic cancer. My breasts were high risk anyway because of dense breast tissue and the lumps. I was always fearful that they were going to diagnose me with breast cancer.
My Second Visit to the Genetic Counselor
Early in 2020 I decided to go back to the genetic counselor because I could never really get it out of my mind. After revisiting my family tree he said that there was a high probability of me having a BRCA2 gene mutation. The test was relatively straightforward because they only had to look at the same genetic mutation as my cousin. It was now covered by Medicare so there was no cost to me.
I was at work when the genetic counselor phoned me with the results. It was not a surprise to me that I had the genetic mutation. I think I was in shock because I did not react at all. He said that my sons would need to be tested as well.
A BRCA2 Positive Result
I was driving home and it hit me – “Oh My God I have given my sons a death sentence”. Tears started streaming down my face and it was a struggle to drive the rest of the way home. How am I going to tell my boys? I had already discussed what I would do with my husband. Because my risks of breast and ovarian cancer were so high, I knew I would have prophylactic surgery. I had already booked the appointment with the gynae-oncologist.
I had to tell my sons in person and as soon as possible. It was one of the hardest things I’ve ever had to do. Both of them took it really well and were definite in their desire to have the test as well. We all expected my older son to have the BRCA2 gene mutation as well because he had had a melanoma.
My Third Visit to the Genetic Counselor
We went to the genetic counselor as a family. My sons had their blood tests straight away. A few weeks later they each received a letter in the mail and to our surprise, neither of them tested positive. My older son undoubtedly has a gene for melanoma, but we already have skin checks six monthly so there is no reason to look for the gene responsible.
It is such a huge relief that my sons haven’t inherited the BRCA2 gene mutation from me. They have had to watch me go through multiple surgeries, their grandfather died of prostate and pancreatic cancer, and now my brother has prostate cancer as well. It is one glimmer of joy in this journey with BRCA2.
Genetic Counseling and Testing
I feel very grateful that my cousin told me about BRCA2 10 years ago. I could never relax knowing that there was a chance of me having it as well. I am really lucky that she happened to have the same breast doctor and genetic counselor as I do. It made it much easier to get testing done. Because the BRCA2 gene passed down through the male line in my branch of the family there is not the large incidence of breast or ovarian cancer that would alert the doctors.
It was only by deciding to go back to the genetic counselor that the genetic mutation was discovered. Because there have been a lot of advances in research, it is worth being retested if you had a test done some years ago. Some people who were tested negative back then have now been found to have a genetic mutation. Talk to your doctor if you are concerned.
In my next episode I will be discussing genetic counseling and testing. For further information, go to my website Midlifestylist.com and search BRCA. I will be discussing these topics in greater detail. You can read about my personal journey with BRCA2 and prophylactic surgery on the website.
Thank you for listening. Please subscribe to the podcast so that you don’t miss an episode. You can contact me via Midlifestylist.com
Outro
Do you want to learn more about BRCA gene mutations and cancer awareness? Find me at Midlifestylist.com where you can read about this and living a healthy lifestyle. Please subscribe to the podcast so that you don’t miss an episode. If there is a topic you would like me to talk about you can contact me via Midlifestylist.com. Thank you for listening.
