BRCA Gene Mutations and Pancreatic Cancer

Cancer Awareness ribbons. BRCA gene mutations and cancer awareness. BRCA gene mutations and pancreatic cancer

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 awareness ribbon.  Caption:  Pancreatic cancer facts.  4th most common cancer death in Australia and USA.  Worst 5 year survival rate
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.

Pancreatic cancer awareness purple ribbon.  Caption:  The third most common cancer associated with a BRCA gene mutation is pancreatic cancer.  Pancreatic cancer awareness
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.  Caption:  The best protection is early detection.  Pancreatic Cancer Awareness
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.  

Shared on Weekend Coffee Share on Natalie the Explorer’s blog and Life This Week Linkup on Denyse Whelan’s blog

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Melanoma – Are You At Risk?

Melanoma - Are You At Risk?

Transcript of Podcast Episode 5: Melanoma – Are You At Risk? Includes an interview with Jordan Hill, who had a melanoma at age 24.

Introduction

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
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
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
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
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:
A spot that doesn't heal
Spread of pigment from border into surrounding skin
Redness or new swelling beyond border of mole
Change in sensation e.g. itch, tenderness or pain
Change in surface of 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:

Shared on Weekend Coffee Share Linkup on Natalie the Explorer’s blog and Life This Week Linkup on Denyse Whelan’s blog

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What To Do If You Are Diagnosed With a BRCA Gene Mutation

What to do if you are diagnosed with a BRCA Gene Mutation

Transcript of Podcast Episode 4

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.  

Shared on Weekend Coffee Share Linkup on Natalie the Explorer’s blog and Life This Week Linkup on Denyse Whelan’s blog

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Being Diagnosed With a BRCA2 Gene Mutation – My Story

Multiple coloured cancer awareness ribbons

Transcript of Podcast Episode 2

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.  

Shared on Weekend Coffee Linkup on Natalie the Explorer’s blog and Life This Week Linkup on Denyse Whelan’s blog

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Update on Resilience, My Word of the Year

Update on Resilience - My Word of the Year

Improving my Resilience is My Goal for the Year

My word of the year is resilience.  I thought I would update my readers on how my goal of improving my resilience is going.  Resilience means to keep trying despite setbacks, to never give up.  I chose this as my word of the year to inspire me even when I feel like giving up.  

One Year After Being Diagnosed with BRCA2 Genetic Mutation

It is one year since I was diagnosed with BRCA2, a genetic mutation that increases your risk of cancer.  Since I was diagnosed with BRCA2 my life has been altered dramatically.  A year ago I was a productive member of society with a job, and pretty good health.  As soon as I got that diagnosis I knew that I wanted prophylactic surgery.  There was no doubt in my mind.  I have looked after patients with ovarian and breast cancer my entire career and I always had in the back of my mind that I would take any steps to avoid either of them.

What is BRCA2?

Because BRCA2 increases your risk of cancer by so much, and if you do get cancer it’s usually the most aggressive kind, the best treatment is to avoid it.  I had been screening yearly for 10 years leading up to this, and there’s almost a feeling of inevitability about it.  You’re waiting for them to tell you that one of the areas they’ve been watching has become cancerous.  So there was really no decision to make – I was going to have prophylactic surgery.

BRCA2 Mutation Cancer Risk infographic.  For women, the cancer risk is 40-84% of developing breast cancer, 11-27% ovarian cancer and 2-7% pancreatic cancer.  Source: Ovarcome
BRCA2 Mutation Cancer Risk infographic. For women, the cancer risk is 40-84% of developing breast cancer, 11-27% ovarian cancer and 2-7% pancreatic cancer. Source: Ovarcome

I expected both surgeries to go well.  You never consider that there could be complications, the only thing on your mind is getting rid of the offending organs that could give you cancer.  First cab off the rank was my ovaries – a relatively low risk, minimally invasive operation because I had already had a hysterectomy.

Suffering Surgical Complications 

The complication from this relatively small, keyhole operation is rare, but has changed my life.  I went into bladder retention – my bladder was stretched beyond capacity and has not sprung back into shape.  I have an atonic bladder now – it doesn’t work.  It’s probably permanent because the nerves were damaged and the muscle fibres stretched beyond their limits.  Even corrective surgery by a urologist hasn’t made any difference.

There is one positive – because I’m a nurse I can self cathetarise so I don’t need an indwelling catheter.  To be able to pass urine I need to insert a cathetar.  I get really upset about this because at 54 years old, I don’t want to think my bladder is completely stuffed.  But the reality is that it IS stuffed.

More Surgical Complications Post Mastectomies

The complication after the bilateral mastectomies was also rare.  This was another life-changing complication that I’m still dealing with.  I haemorrhaged on the left side post-operatively.  My blood count dropped really low and I needed several blood transfusions and emergency surgery to locate the bleeding area.  The swelling remained for months afterwards.  I needed even more surgery to wash out the cavity and treat  the area for infection.

Lifetime BRCA1 and BRCA2 Cancer Risks for Men.  Many people do not realise that BRCA1 and 2 affects men as well.  Prostate cancer runs in my family with my grandfather, father and brother having it.  Dad also had pancreatic cancer.  Melanoma also runs in my family - brother, sister and son.  Source:  Basser Research Centre for BRCA
Lifetime BRCA1 and BRCA2 Cancer Risks for Men. Many people do not realise that BRCA1 and 2 affects men as well. Prostate cancer runs in my family with my grandfather, father and brother having it. Dad also had pancreatic cancer. Melanoma also runs in my family – brother, sister and son. Source: Basser Research Centre for BRCA

The Physical and Mental Affects of a Prolonged Recovery

My recovery has been prolonged because I wasn’t allowed to do any exercise apart from walking until the swelling subsided.  That meant six months without using my upper body for anything more strenuous than lifting a cup.  When I was finally allowed to do yoga, my muscles went into spasm and I was in severe agony.

I knew that I wouldn’t be able to improve my upper body strength without professional help.  My GP was very understanding and supportive and has much more insight into patients returning to work after injury or surgery.  He referred me to an exercise physiologist to build up my physical strength.  Because I was struggling with the emotional fall-out from all of this, he referred me to a psychologist as well.

Improving Mentally and Physically

It’s approximately 3 months since then.  Emotionally and mentally I’m so much stronger.  My psychologist helps me to look at things from a different point of view, and has given me strategies to deal with the grief and stress.  She doesn’t pat me on the hand and tell me it’s going to be alright.  I need more than that.  I need to work through the emotions that have come up from these surgical complications.

Physically, it’s been a hard slog.  The exercise physiologist can’t increase my exercises too quickly because it can result in severe muscle pain.  I do an hour long program that she gives me, three times a week.  I see her once a week to ensure I’m doing the exercises with the correct technique, and to learn new exercises.

The ultimate goal other than improving my resilience, is to return to work.  My boss has offered to reduce my hours to two shifts a week which will at least enable me to return to my job.  She has been incredibly supportive throughout the whole ordeal.  I couldn’t wish for a better boss.  If I continue to improve at my current rate, I will return to work in April.

Lack of Understanding From My Surgeon

Today I had a post operative visit with my breast surgeon.  There is always a little bit of anxiety leading up to these appointments because I’ve had so many occasions where I felt really upset.  Usually his first question is  “Are you back at work yet?”.  Despite me explaining that my employer won’t let me go back until I am back to 100% capacity and able to do CPR and heavy manual handling, he never understood.   I always felt like he was judging me for it – as if I didn’t want to work.  He even asked me straight out a few times if I wanted to work.  

Not once has he ever taken the blame for what happened to me.  In his opinion, my post-op haemorrhage couldn’t possibly be his fault.  He tried to shift the blame, even sent me to see a haematologist to find out if I had a bleeding disorder.  

Post-operative Complications Can and Do Happen

As a nurse, I know that post-op complications can happen.  When they consent you for any procedure large or small, part of the consent process is to discuss the complications that may happen.  I’ve only seen a haemorrhage after breast surgery once in my career and it was as dramatic as mine.  

I’ve been unlucky to suffer a few complications post surgery previously so I have a better understanding than most people.  That is why I’ve never blamed the haemorrhage on my surgeon.  But the fact that he tries to shift the blame to me has worn thin.  I’m not contemplating getting compensation for this, or suing him, but a lot of people would. 

The Cost of a Prolonged Recovery 

This has cost me a massive amount of money in lost wages and medical expenses and I’m just lucky I had income protection insurance through my superannuation fund.  I don’t live my life with regrets usually but there have been times when I’m really depressed because of the way my life has changed in the last year.  

BRCA and cancer - BRCA1 and 2 increase the risk of cancer for both men and women.  Source: Penn Medicine's Basser Research Centre for BRCA
BRCA and cancer – BRCA1 and 2 increase the risk of cancer for both men and women. Source: Penn Medicine’s Basser Research Centre for BRCA

Even though the last year has been difficult, and my quality of life has changed, I’m still able to be positive about the future.  I wasn’t willing to accept that I would not be able to work again.  At times I have wondered why I try so hard.  Then I count my blessings.  My parents both died of cancer, and it looks like my brother will too (he has advanced prostate cancer).  I have beaten cancer and don’t have that hanging over my head.

Being Resilient and Looking to the Future

Even when things seemed hopeless, I still had the power to change direction.  I wasn’t willing to let fate decide that I would never be well enough to work again.  I sought help.  And I continue to work hard to get back to the person I was, changed in many ways but the old me.  That’s what resilience has meant to me in the last year.

If you would like more information on BRCA genetic mutation and cancer risk, these are the other posts I have written:

Shared on Weekend Coffee Share Linkup on Natalie the Explorer’s blog, Life This Week Linkup on Denyse Whelan’s blog and Senior Salon Linkup on Esme Salon’s blog

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How to Perform a Breast Self Examination (and why)

How to Perform a Breast Self Examination (And Why)

The statistics on breast cancer are troubling. Even with all the research and new treatments available, there are still 55 new breast cancer diagnoses daily. The most important detection for early breast cancer is regular breast self examination. This post will inform you of how to perform a breast self examination correctly, and other important facts to be aware of.

Early Detection of Breast Cancer Leads to Higher Survival Rates

If breast (and other cancers) are detected early, they have a much higher survival rate. Options for treatment are numerous. At present the five year survival rate for breast cancer is 91% in Australia, and 96% if the cancer is caught early. That is an excellent outcome, but there are still over 5000 deaths yearly. A free breast screening program is available in Australia, but performing breast self examination is still the best way to detect early cancer. It is important to note that males can get breast cancer too, albeit at a much lower percentage than women.

Breast Cancer Statistics in Australia.  Breast cancer is the most commonly diagnosed cancer, affecting 1 in 7 women and 1 in 675 men.  Source:  National Breast Cancer Foundation
Australian Breast Cancer Statistics. Credit: National Breast Cancer Foundation

How to Perform a Breast Self Examination

If breast cancer is caught early there is a very high chance of survival. A monthly breast self examination is the best way to detect early breast cancer because every woman’s breasts are different. If you know how your breasts usually look and feel, you will be in the best position to identify early changes and seek medical attention. Some breast changes are very subtle so it is important to know what to look for. The most important thing is to check your breasts monthly. Some guides say to do it on the first of every month, and some say after your monthly period ends. Post menopausal women should do theirs on the first of the month.

I have seen a number of ways to perform breast self examination. I have always done mine in the shower with soapy, slippery skin. Some women prefer to do theirs lying down. What matters the most is that you check all parts of your breast including up to your collar bone and under the armpit. Here is an excellent video which shows very clearly the correct procedure:

Breast Self Examination. Credit Madras Institute of Orthopaedics and Traumatology, India

Signs and Symptoms to Watch For During Your

Breast Self Examination

The signs and symptoms to watch for are:

  • Changes in the size or shape of your breast
  • Dimpling or a ‘pulling’ of skin on your breast
  • Any new lumps in the breast or under your arm
  • Breast pain or swelling (pain is rare)
  • Discharge of fluid (except breast milk) from the nipple, including blood
  • Dry, flaky red skin around the nipple area

If any of these symptoms are found, make an appointment to see your General Practitioner as soon as possible. Some women have no symptoms and the cancer is found during a routine mammogram or physical examination by a doctor. Mammograms should be done two yearly between the ages of 50 to 74. Breast Screen Australia provides a free screening service for women aged 50 to 74. Free screening is also available for women aged 40 to 49 and over 74, if requested. It is recommended that women with a strong history of breast or ovarian cancer are screened from an earlier age.

If symptoms are found, further testing may be required including ultrasound, biopsy and other scans such as a CT Scan or MRI. Treatments depend on the size and type of tumour, whether it has spread, and your general health.

Signs and Symptoms of Breast Cancer:  changes in the size or shape of your breast, dimpling or pulling of skin on your breast, any new lumps in the breast or under your arm, breast pain or swelling, discharge of fluid (except breast milk) from the nipple, including blood and dry, flaky red skin around the nipple area.  Source: ICON Cancer Centre
Signs and Symptoms of Breast Cancer. Credit: ICON Cancer Centre

Preventing Breast Cancer

Some factors that increase your risk of breast cancer include:

  • increasing age,
  • family history,
  • inheritance of mutations in the genes BRCA1, BRCA2 and CHEK2
  • Exposure to female hormones (natural and administered)
  • a previous breast cancer diagnosis
  • a past history of certain non-cancerous breast conditions

While you can’t do much about your genetic history, there are lifestyle factors that can impact your chances of getting breast cancer. These include:

  • being overweight
  • not enough physical activity
  • drinking alcohol
  • exposure to radiation

Know Your Breast Cancer Risk

I have written about my own diagnosis of BRCA2 gene mutation, which lead to my bilateral prophylactic mastectomies. It is important to know your risk because the presence of a gene mutation or family history of breast and ovarian cancers, could dramatically increase your risk. My risk before surgery was 60-80% as opposed to the general female population of around 13%. The only effective way I could guarantee that I would not get breast cancer was to have my breast tissue removed. It was a “no brainer” for me – the type of cancer that people with BRCA2 get is often the worst type with a very low survival rate. I did not even want to take that risk.

It has been a life changing decision for me because I had complications – I haemorrhaged post operatively. I’m still recovering 5 months later and have not been able to return to work. It may seem strange to say that I still don’t regret that decision.

I found out this past weekend that my brother has Stage 4 Prostate Cancer, undoubtedly from BRCA2. My mother-in-law has terminal lung cancer and only has a few weeks to live. The high incidence of cancer in my family gives me a lot of anxiety around it. Mum passed away at my age from cancer, and dad died from pancreatic and prostate cancer (BRCA2). My son had a melanoma at 24, and two of my siblings also had melanomas. Some families seem to cop a large burden, and ours is one of them.

Don’t Ignore Symptoms

One of the messages I want to convey is never to ignore symptoms. I have written about this previously in Signs You Need to See a Doctor. Be an advocate for your own health because without it daily life is so much harder.

Please share this article – it may help someone you care for. If you enjoyed this you may like my previous post October is For Breast Cancer Awareness which lists my previous posts about my BRCA2 diagnosis and surgeries.

Note: This post is for general informational and education purposes only. Please refer to my disclaimer.

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October is Breast Cancer Awareness Month

October is for Breast Cancer Awareness

October is Breast Cancer Awareness month.  I will be featuring breast cancer awareness in my blogs, as well as hereditary cancer.  My focus on cancer awareness this month is due to a passion for health promotion.  I can speak from experience because I have been a Registered Nurse for 30 years as well as having diagnostic tests and multiple surgeries.  

If you have been following Midlifestylist.com you may be aware that I have BRCA2 gene mutation which increases my risk of breast and other cancers.  Both my parents died of cancer – mum was my age, 54.  My father had BRCA2 as well.  He had prostate cancer and pancreatic cancer, and passed away when he was 84.  His father also died of prostate cancer and his sister died of ovarian cancer.  My son and two siblings had melanoma.   Cancer has therefore impacted my life dramatically. 

This year I had prophylactic surgeries to remove my ovaries and breasts.  That is because my chance of getting cancer was so high.  Unfortunately I had complications from both operations and required 3 extra operations.   I’m still recovering and have not been able to return to work since May.

Raising awareness of breast cancer and BRCA2

I can use my blog as an avenue of passing on my knowledge and experience of the impact of cancer and hereditary cancer risk.  Raising awareness will hopefully spare other families from seeing one of their loved ones suffer from cancer.

My previous blog posts about BRCA2 and cancer are:

The first of every month is the day women should perform a breast self examination.  My next post in this series will show you the correct way to perform the breast self examination, and what symptoms to look for.  

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Know Your Family and Personal Health History

Know Your Family and Personal Medical History

This post is for general informational and educational purposes only. Please refer to the Disclaimer. It is recommended that you seek advice from your medical practitioner if you require specific medical advice.

Knowing Your Medical History is Essential

It is important to keep a track of your health history, especially your family’s history of diseases and other health issues. Your family’s medical history can reveal a pattern of certain diseases which may indicate whether there is a familial risk for developing a medical condition. Common diseases that can crop up in families are:

  • Cancer
  • Cardiovascular disease – heart disease, high blood pressure, strokes
  • Kidney disorders
  • Diabetes and other endocrine diseases
  • Asthma
  • Genetic disorders such as haemophilia and Down syndrome
  • Some types of mental illness
  • Osteoporosis
  • Huntingtons disease
  • Cystic fibrosis
  • Albinism

Some diseases are caused by mutations in a gene, while others are caused by a combination of genetic and environmental factors such as diet, exposure to toxins, skin damage by exposure to UV light, and substance abuse. Further information is available from Health Direct at this link.

It is important to know your family's health history because it may show an inherited disease.  This post includes a printable medical history form to record your personal and family health.
It is important to know your family’s health history because it may show an inherited disease. This post includes a printable medical history form to record your personal and family health.

My Own Family Medical History

A few weeks ago I was interviewed by Sue Loncaric for her series Women Living Well Over 50. One of the subjects we discussed was the importance of knowing your family and personal medical history. I shared my own family history of cancer, and how it lead me to have genetic testing to diagnose me with BRCA2 gene mutation which puts me in a high risk for certain cancers.

My family also has a high risk of cardiovascular disease and I have a congenital heart defect which was inherited from my father. Knowing my risk meant that I could have increased surveillance and appropriate treatment at an earlier stage, before I developed cancer or cardiac issues.

Knowing your family history can guide your doctor to investigate and treat you for medical conditions in their early stages or even prevent them before they occur. For example, because I have BRCA2 I had my ovaries and breasts removed before I developed cancer. I also started on cholesterol reducing medications before I developed plaque which could have lead to blocked arteries (arteriosclerosis).

My family has a high risk for melanoma so I have taken my sons for yearly skin checks since they were young. My son developed a melanoma at 24, but it was diagnosed at stage 1 and he is now cured. This is due to the regular check-ups and knowing our family history. We both now have 6 monthly skin checks.

Knowing your family health history is important because it could highlight hereditary medical conditions or risk of disease. It can guide doctors to investigate symptoms further and even guide them towards choosing one form of treatment over another. Drawing up a family tree may help to pinpoint certain diseases in the family. Using my own family as an example, your family tree may look like this:

Example of a family tree showing important health history.  BRCA2 gene mutation has been passed down to two generations.  It has an increased risk of breast, ovarian, pancreatic and prostate cancer and may also cause an increased risk of melanoma and other cancersMy Family Tree showing Our Health History

Keeping track of your personal health history is also important. I write everything down and update my records to keep a track of medications, allergies, illnesses and operations, vaccinations and the contact details of the medical practitioners who treat me.

The file is updated regularly and I carry a copy in my handbag in the event of a medical emergency. I cannot count the number of times I have had to refer to it. Keeping track of allergies, immunisations, medications and what procedures you have had done, is easy with this Personal and Medical Family History form.

Personal and Family Medical History

I have developed a useful printable personal and family medical history form that you may use. Print a separate copy for each member of the family and keep it somewhere safe. There is a printable version at the end of the post:

PERSONAL AND FAMILY HEALTH HISTORY 

Personal Medical Information

Name 


Date of Birth 

Place Born


Address



Next of Kin

Name


Contact No. Or Address


Medicare No.


Medical Insurance Policy: 

Provider:                        Card/Policy No.


Concessions


Social Security/DVA No.


Allergies 

MedicationReactionSeverity

Vaccinations

VaccinationDateVaccinationDate

Medical Conditions 

Medical ConditionDate Diagnosed

Surgical Procedures 

DateProcedureDoctorHospital

Medications

MedicationDoseFrequencyPurpose

Major Illnesses

IllnessDateDoctor

General Practitioner 

Name


Address


Phone


Medical Specialist

Name


Address


Phone


Surgical Specialist 

Name


Address


Phone


Medical Specialist 

Name


Address


Phone


Surgical Specialist 

Name


Address


Phone



Additional Notes









Family Medical History

Father 

Medical conditions 


If deceased – Age & Cause


Mother

Medical conditions 


If deceased – Age & cause


Children

Medical conditions 


If deceased  – Age & Cause


Brothers/Sisters

Medical Conditions 


If deceased – Age & Cause 


Grandparents

Paternal Grandfather – Medical Conditions 


If deceased  – Age & Cause


Paternal Grandmother – Medical Conditions 


If deceased  – Age & Cause 


Maternal Grandfather  – Medical Conditions 


If deceased  – Age & Cause 


Maternal Grandmother  – Medical Conditions 


If deceased  – Age & Cause 


Aunts/Uncles

Significant Medical Conditions


If deceased  – Age & Cause

Write significant hereditary medical conditions on this family tree

Printable Family and Personal Medical History Form

Download and print as many copies as you like. You will need one for each member of the family.

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Please share this article as it may help someone else.

2 thoughts on “Know Your Family and Personal Medical History”

  1. katey26 says: July 29, 2020 at 10:03 am Edit The form is a great idea Like Reply
    1. Christina Henry says: July 29, 2020 at 7:23 pm Edit Thankyou Katey. I’m glad you like it Liked by 1 person Reply
  2. Jo says: July 29, 2020 at 10:06 am Edit This is a fabulous resource Christine. Two of my grandparents were heavy smokers and died of lung cancer (paternal grandfather and maternal grandmother – at 94), my maternal grandfather passed from complications of a routine operation and my paternal grandmother died of old age (at 98). My mother (78) is as healthy and fit as a horse, but my father (82) has had prostate cancer, non TB lung disease and asthma. Number 6 in 8 kids he lost his eldest brother at 92, but all others are living. All of Mum’s siblings are still living. My husband, however, was adopted and we know nothing at all of his family history. You have definitely got me thinking. #MLSTL Liked by 1 person Reply
    1. Christina Henry says: July 29, 2020 at 7:28 pm Edit Hi Jo, somehow I think you will have a long life! It must be difficult for your husband at times, not knowing his family history. I had my DNA tested through Ancestry.com and found a new first cousin who was adopted. That’s one way your husband could find family if he ever wanted to know. Regards Christina Liked by 1 person Reply
      1. Jo says: July 31, 2020 at 7:56 am Edit Yes, we’ve done the DNA testing, but the closest matches we got were 3rd/4th cousins. We’ve also now got a birth certificate so the next step is to see if we can getthe records unlocked (Scotland). Liked by 1 person
      2. Christina Henry says: July 31, 2020 at 12:31 pm Edit Oh wow! Good luck with it. Liked by 1 person
  3. leannelc says: July 29, 2020 at 7:38 pm Edit Hi Christine – I take my family’s medical history for granted and keep forgetting about the diseases etc that took some of them early. My father died in his early 70’s but that was largely from poor lifestyle choices, however you’ve reminded me of the heart issues in my mother’s side of the family that I need to keep in mind as I get older. I’m grateful that overall we’re a pretty healthy bunch.
    #MLSTL Liked by you Reply
    1. midlifestylist says: July 30, 2020 at 2:45 pm Edit Hi Leanne, I unfortunately inherited some dodgy genes from my dad, so I envy you having a healthy family. Luckily all the creativity we inherited came from my parents so you take the good with the bad. Some people prefer to put their head in the sand with health issues but I think it’s better to keep family history in mind and get on to it quickly if anything worries you. Thank you for commenting, regards Christina Like Reply
  4. Debbie says: July 29, 2020 at 9:29 pm Edit Hi Christina, this is a wonderful resource and your reasons behind it are really informative. Thanks for sharing your thoughts and ideas with us. We are looking at issues with my grandson and family backgrounds are proving required information. Very timely to read your post #mlstl Liked by you Reply
    1. midlifestylist says: July 30, 2020 at 2:47 pm Edit Hi Debbie, I’m so glad you found it useful. I really hope it helps with your grandson. Thank you so much for your feedback, regards Christina Liked by 1 person Reply
  5. Helen says: July 30, 2020 at 12:34 am Edit This is so important! I come from a family that does not talk about family illnesses and It too a long time to draw the information out! It also helped remove some of the shame I was feeling when I realized that some of my medical conditions were not my fault, but actually due to family history. Like Reply
    1. midlifestylist says: July 30, 2020 at 2:38 pm Edit Hi Helen, yes I agree. The time for sweeping things under a rug is long gone. I still have family who choose to put their head in the sand where it comes to their health and I definitely disagree with that approach. It’s better to avoid illnesses or treat them in the early stages. Thank you so much for commenting, regards Christina Like Reply
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Women of Courage Guest Post

Some time ago I was asked by Denyse Whelan to write a guest post for her Women of Courage series. I’ve been following her series every week and have been inspired by all the other guests so it was an honour to be included. Denyse is someone I admire because she has had her own battles with cancer. I look after people going through this type of cancer after they have surgery and it’s a huge deal – head and neck cancer is incredibly challenging but Denyse survived this and has gone on to write very inspirational blogs about this and many other subjects.

Since I wrote this guest post, I have had four surgeries – two planned and two unplanned. I had the surgeries with the intention of removing the organs that were targets for cancer – my ovaries and breasts. I have BRCA2 gene mutation which gives me a very high chance of breast, ovarian, and pancreatic cancer, and melanoma. Previous posts were written about it here, and about my surgeries here.

The link to my guest post on Denyse’s blog is here. Please read it and some of Denyse’s other blogs. I thoroughly enjoyed participating in this guest post for the Women of Courage Series.

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