Being human

The human body - a summary!

Please stop for a moment and think about this....

Most of the time you probably think of yourself as the person you are - your name, your background, your personality, your interests, your loves, your fears, the things you do. Containing all of that in one package is your human body. Most of the time you take most of what your human body does for granted. You have no real idea about all of the things that are going on in your body at any given moment that keep you alive and functioning.

The instruction manual for your human body is your genome. Your genome is made of 3 billion DNA "base pairs" - or, 4 letter chemical codes. Around 3% of these chemical codes spell out genes. You have around 24,000 genes. Scientists are learning lots about what these different genes each do to make your human body live and function. (And from what I can tell they have not yet worked out what on earth the other 97% of your 3 billion chemical codes are doing.)

When I stop and actually think about these numbers, I realise how incredible the letter I got in the post yesterday from Leicester's Department of Clinical Genetics really is.

Dear Sarah, ...

"...As you are aware we have carried out further tests into the cause of your breast cancer and your wider family history of breast and ovarian cancer. We have now received the results which has identified a significant alteration in the PALB2 gene...."

This is BONKERS! To try and find the cause of my breast cancer (and the breast and ovarian cancers in my family), clever scientists out there have been scrutinising 97 of my genes that are considered to be relevant to breast cancer risk. And they've found it, in the gene called PALB2.

Just to put this in to perspective again...

In amongst the 3 billion DNA base pairs that make up my genome, based on previous studies and research, scientists identified 97 sets of DNA base pairs (genes) to look at. One of them was the PALB2 gene which itself is made up of 38,195 base pairs of DNA (ie, 38,195 pairs of 4 letter chemical codes). That's where they found the error that caused me to have breast cancer at age 33. Think of it as going in to the British Library, being told that somewhere in one of the books is a typo, and that you have to try and find it. You're given a few clues to narrow down which sections it would be best to search in although no guarantees they are the right sections. Needle. Haystack.

Wow.

So, what's wrong with me?!

Lots, haha! But focussing on the genetics... We already knew there was something genetically wrong with me that increased my risk of breast and ovarian cancer. The family history plus my own diagnosis at such a young age made that obvious. What's changed is that they now know exactly what kind of defective mutant I am, and from what I can tell, this is good news. Knowledge is power.

Your body is made up of trillions of cells, and all sort of things go wrong with many of those cells every day. Certain genes, like PALB2, play a part in spotting when that happens and fixing it, preventing a cancerous tumour from developing. (A cancerous tumour starts with one single cell that is faulty. A cell that should have, for example, been the cell of a milk duct, becomes an out of control monster, no longer concerned with it's job of being a milk duct cell, but only with dividing and multiplying in to new monster cells, that divide and multiply in to new monster cells and so on and so on, taking over the space in your body and preventing other cells from doing their own jobs of keeping you alive and functioning well).

So, one of my genes, PALB2, is not doing it's job properly. One day, somewhere in my body, one single cell got all messed up, and became faulty. Instead of being spotted and then repaired or killed off, it was ignored or got missed, and was able to divide in to two new messed up cells. Those two new messed up cells each divided in to two more new messed up cells, and so it went on until there were enough messed up cells there to form a tumour.

What now?

The error in my PALB2 gene caused my breast cancer. That error in that gene is still there in all the cells in my body, and could cause another, new breast cancer and possibly an ovarian cancer too in the future. So I go on ahead as planned with preventive surgeries, knowing that this is the absolute right move. To put it bluntly, my surgeon is removing all breast tissue from my body and reconstructing with muscle from my back, and implants. Fake boobs, but ones that won't be on a mission to kill me. And the ovaries will be chopped out soon too. It doesn't mean I am completely risk free - it's not possible for the surgeon to guarantee every breast cell has been removed, but my risk of a new breast cancer or ovarian cancer will be very low, and lower than the population risk (ie the risk of any random woman in the population who has no family history or genetic error).

Medically, other than that I'm not yet sure - I need appointments with the Genetics Clinic, my oncologist etc. But this information might help them to give me better targeted drugs to reduce the risk of recurrence of the cancer I already had, and I wouldn't be surprised if I am asked to be included in various genetics studies and things.

But there is another thing.... I KNEW there was something genetically wrong in my family and I KNEW it wasn't BRCA1 or BRCA2 but I KNEW I was at high risk. I bloody knew it, and I was right. (I always am. Sometimes people think I am not right, but I am always proven right in the end my friends, always. True.) I know lots and lots of young women in a similar position to me - breast cancer diagnoses but no BRCA fault. No BRCA fault is not necessarily good news  and does not necessarily mean a cancer was "just one of those random things" - you can still be at high risk from a fault in another gene such as PALB2 and I am living proof of that. I intend to advocate for women and families at risk of hereditary breast and ovarian cancer (HBOC) where no BRCA fault has been identified. I am going to advocate for these women to have access to increased surveillance, and preventive options such as surgery. It can mean the difference between life and death.

I would love to hear from you if:

• If you have a PALB2 mutation too! I don't know anyone else with one yet!
• If you have a strong family history of breast and ovarian cancer but, after genetic testing, have no BRCA1, BRCA2 (or other such as P53, CHEK2) mutation identifiable in your family.

My own cancer treatment is my priority for now, but as soon as I can I will be collating information about PALB2 and translating it in to plain English, for myself and for anyone else who'd find it useful.

And tonight I am going out with a friend and I am going to have a drink and make a toast to SCIENCE!

Incredible. Just incredible.

Mutant

No longer am I "HBOC uninformed".

(Makes me even more annoyed I never changed the URL for this blog.)

Came home to a letter from the Genetics Clinic. I was right. I'm a PALB2 mutant, and that's why I've got cancer. 

I came home late, exhausted. Read that letter, freaked out and bounced off the walls for a couple of hours, and now I'm ready to collapse. So much to process. Can't do it now.

But one thing I know is: surgery can't come quick enough. 

Why I'm sticking a picture of Kylie Minogue on my fridge this year

"The epic task of being brave is made that bit easier when there is hope." - Kylie Minogue

Look at this beautiful woman! You don't need to be a Kylie fan to appreciate that this is a woman who is fit and healthy, full of colour, full of sparkle and full of life. The photo is from her Aphrodite tour in 2011.

 

Almost 10 years ago, on 17th May 2005, Kylie was diagnosed with breast cancer, at age 37. Her 10 year "cancerversary"  this year is significant. You are never cured of breast cancer - in some cases it will come back after 10 or even 20 years - but this is not common. If breast cancer is going to come back, it is most likely to do so within the first 2 years, and the more time that passes after diagnosis, the less likely it is that breast cancer will come back. So Kylie's 10 year cancerversary is a big milestone. And one that gives me hope.

Yesterday my friend Diane shared a link to an interview Kylie did with Cat Deeley around a year after her cancer diagnosis. I'd never seen it before. To be honest, I'd never paid that much attention to Kylie's cancer diagnosis before. But I started to watch the interview and found myself glued to it. By the end, I felt an incredible bond with Kylie even though I've never met her and we have such different lives! As she said in another interview "cancer is a great equaliser, it doesn't care who you are". Most people see Kylie Minogue the superstar, the celebrity. I now see Kylie Minogue the inspirational breast cancer survivor, a woman that I can relate to in ways I would never have imagined 6 months ago.

"When there is a diagnosis it rocks your world. So much so that I don't like to take myself back to thinking about that time."

After watching the interview with Cat Deeley, I found myself trawling the internet for other interviews with Kylie where she talks about cancer. In every interview, when talking about diagnosis and treatment, there are moments where she becomes visibly emotional, shaky. I know those emotions, I know those shakes. When she refers to dark places, dark thoughts - I know those dark places, I know those dark thoughts. I've been there, I've thought them, as recently as today. Which is why I've spent half the day googling Kylie, reading and watching interviews, looking at pictures. She gives me hope, she inspires me, and that gives me energy.

"I had moments where you just don't want to look in the mirror."

This is Kylie when she was going through cancer treatment.

 

I hadn't thought about it before, but beautiful, glamorous Kylie Minogue also spent some time with "Generic Cancer Face" and learning to tie headscarves. She also lost her hair, her eyelashes, her eyebrows. In fact, I think my favourite bit of the interview with Cat Deeley was where she talked about this and how when it all starts growing back it's thrilling:

"There's an eyelash!"

"There's an eyebrow!"

She's not wrong! It is thrilling! Recently I've spent a lot of time with the magnifying mirror, closely inspecting what's going on with my eyebrows and eyelashes. Also with two mirrors, angled just right, so that I can scrutinise the hair growth on the top of my head.

"I have to start from the beginning. I don't have strength, I don't have stamina, I don't have everything that I took for granted before so really I've got a mountain to climb... but I don't fancy hanging around at the bottom of the mountain."

I've felt incredibly frustrated recently at how unfit I've become and that I won't be able to put it right before surgery. My initial enthusiasm for and ability to keep running during chemo quickly disappeared. I've lost fitness, lost strength, put on weight and felt like a bit of a failure for it. Hearing Kylie talk about this makes me realise it was out of my control. Cancer treatment is gruelling. What my body has just been through is extreme. I should be proud to still be standing. And I can get the fitness and strength back in time. One day at a time.  

 

And what is Kylie's message to other women who have been diagnosed with breast cancer?

"You can get through it, you can.... Coming out the other side - it's like spring time."

 

This is why I'm sticking a picture of Kylie Minogue on my fridge this year. To remind me every day that I will get through this. This is just a phase, and like Kylie, I will come out the other side, and into spring time.  

 

PS:

"Having had cancer one important thing to know is you're still the same person at the end, you're still the same person during it. You're stripped down to zero, but you're still you, and it seems that most people come out at the other end feeling more like themselves than ever before."

My favourite blogs by incredible young women with breast cancer

Updated 4th January 2015!

Hi! I've been meaning to do this for a while, it's for anyone who is interested but particularly for any young women diagnosed with breast cancer.

As you can see from the amount I bang on on here, I have some kind of written diarrhoea disorder. I just can't stop writing. (Although, in my defence, it turns out doing this is good for my health.)

But as well as writing my own, I love reading the blogs of other young women who are dealing with the bullshit that is cancer and wanted to share links to some of my favourites. This list will of course be a work in progress, I will add to it over time as I remember more and discover new ones.

A Little Earthquake
On Twitter too at @ALilEarthquake. Like me, also diagnosed in July 2014. Currently going through cancer treatment.
Funny, warm and honest and I completely relate to everything in it.

Fighting Genghis
Also on Twitter at @rosiechoeka. Rosie is a 30 something from NW London, with a husband and 2 children, blogging about her experiences of breast cancer. Rosie had a lumpectomy and chemo at the end of 2014, but in late December 2014 found out that a new breast tumour had grown, and there were also secondary tumours in her liver. Rosie is now on another course of chemo with different drugs.

Really not brave: Random retrospective posts about having cancer
Kate was diagnosed in November 2013, has completed cancer treatment, and is writing about it now. And I'm so glad because Kate is one of the most positive, inspirational people you'll meet. If you're shitting yourself about things like chemo and surgery, read this.

Get your tits out!
Also on Twitter at @LaraHonnor. Lara is 31 with Triple Negative breast cancer. She's had a lumpectomy and is now having chemo followed by radiotherapy. I love her tumblr blog - it's warm, funny, and brilliantly written!

Love Conquers All
Kayla was diagnosed with breast cancer at 24 and has now finished treatment. She also writes a regular column for Reimagine called Tits and Giggles, and is on Twitter @iamnotmycancer. I found Kayla as a result of her post "I am not my nipples" which I found so inspiring. You have to read her stuff!

The Real
Also on Twitter at @emily_priscilla. Emily is a writer and artist living in Jersey City, NJ, dealing with the aftermath of cancer as a young adult. This blog isn't for the faint of heart, the squeamish, or sensitive. It's for the kickers, the screamers, and the drinkers. (It's brilliant!)

The Malignant Ginger
On Twitter too at @malignantginger. Almost at the end of treatment with chemo and surgery ticked off the list! Funny, quirky, satirical, and documenting the weird and surreal aspects of things like chemo.

Bald, boobless and beautiful
On Twitter too at @Laurahenrietta1. Diagnosed at the beginning of 2014 and has finished cancer treatment.
Honest account which shows how scary and difficult the whole cancer "thing" is, and makes me really admire Laura because she genuinely is brave, and is so supportive of others.

Black Tit Chick Cancer
On Twitter too at @mizzieashitey. Also currently going through chemo. I recently discovered Miranda's blog and love it. Funny, honest, warms my heart. (I can see there's a common theme here in the blogs I like!)



Younger Breast Cancer Network (UK)
And if you are a young woman with breast cancer reading this, I just wanted to mention the Younger Breast Cancer Network (UK). It's a secret, closed group on Facebook for women diagnosed with breast cancer under the age of 45 in the UK. It's an incredibly active group, and any time of day or night that you need information, support, or just to sound off, there will be other people there to share, listen, support. (Literally any time of day or night - there's always a bunch of people awake through the night cos of steroids!). The open Facebook page is here, if you want to join, send a message! And YBCN is on Twitter at @YBCN_UK.

In response to Richard Smith's BMJ blog "Dying of cancer is the best death"

"let’s stop wasting billions trying to cure cancer, potentially leaving us to die a much more horrible death."

Nice!

So who's the idiot that said this? Richard Smith, former editor of the BMJ, in a BMJ blog post published on 31 December 2014, entitled "Dying of cancer is the best death".


What Smith says about dying

According to Smith there are five ways to die.

• Suicide - but he doesn't want to discuss that.
• Sudden death - great for you but rubbish for the people you leave behind, especially if you weren't organised enough to have your death and funeral all sorted out in advance.
• Dementia - maybe the most awful, long, slow death.
• Death from organ failure - you'll be in hospital and in the hands of doctors waaaaay too much.
• Cancer - the best death!

And here is what Smith thinks death from cancer is like:

"You can say goodbye, reflect on your life, leave last messages, perhaps visit special places for a last time, listen to favourite pieces of music, read loved poems, and prepare, according to your beliefs, to meet your maker or enjoy eternal oblivion.
This is, I recognise, a romantic view of dying, but it is achievable with love, morphine, and whisky."

What a load of rubbish!


Dying from cancer - the reality

I'll give my mom as an example. Without going in to personal details, in a nutshell, here is the story of her death from cancer, starting just before we knew she was going to die. (She'd been diagnosed with breast cancer 6 years earlier.)

• Saturday: She came to my house to dog sit for the evening while we were out. She was complaining of a headache and was not well. She stayed overnight.
• Sunday: She was unwell and behaving strangely - drowsy, complaining of severe headaches, not "with it". She refused to allow an emergency doctor to visit - she wanted to see her own oncologist the following day - she had a check up already booked in. She stayed overnight.
• Monday: She left my house to go to her oncology appointment - I phoned the hospital to tell them she had been unwell over the weekend - I was worried she wouldn't tell them. They gave her a brain scan and wanted to keep her in hospital. We visited that evening, and her oncologist privately told me the scans he had seen indicated the cancer had spread to the lining of her brain. She would have a few months to live. He didn't want to tell her until the next day when he had all scan results.
• Tuesday: she had been having seizures in the night, was given lots of medication, and spent the entire day unconscious in hospital.
• Wednesday: She was conscious in hospital but the oncologist was not in that day.
• Thursday: In the afternoon the oncologist visited her and gave her the news. She didn't want to talk and went to sleep.
• Friday: She was unconscious all day. I got home in the evening, and the hospital called me to tell me she had died in her sleep shortly after we left.

There was morphine, and there was love. But she did not get to say goodbye or leave last messages. She didn't get to visit special places for a last time, or listen to favourite pieces of music, or read loved poems, or anything else lovely like that. She had been turning up to the office and working the week before she died.

My mom isn't the only person I have watched die from cancer. Another example is my granddad who went in to hospital with a urine infection, and they found he was riddled with cancer. Over the following 5 weeks he died slowly, painfully, wasting away both physically and mentally bit by bit, day by day.

Death from cancer isn't the way Smith describes. It is incredibly painful - that's why you're given morphine. It is traumatic - for the person who is ill, and for their loved ones. It often involves multiple organs failing. The combination of chemical changes in the body as organs shut down, and the drugs given for pain, to stop seizures, etc mean the person you love can be replaced with a stranger. Death from cancer can make a person confused, aggressive, cold. They might not recognise their loved ones, or care any more about the things they once loved.

Death from cancer is cruel and frightening, for the person dying, and for the people around them. There's no amount of love, morphine or whisky that can change that. What Smith wrote is ridiculous, and very wrong.


"Lets stop wasting billions trying to cure cancer"

He doesn't stop there though! He takes it a step further and says that because cancer is the best death we should stop wasting billions trying to cure it because potentially that could leave us to die a more horrible death.

Seriously? Seriously?!

I wish that I could discuss this with Smith face to face. I have some questions I'd like to ask him.

• Does he think the money spent on my treatment is a waste? I'm 33 years old and I have breast cancer. The NHS has done a wonderful job in enabling me to fight and get rid of the cancer, meaning I can go on and live a full life. Is the money spent on my treatment - the drugs I've been given, the salaries of the doctors and nurses treating and looking after me - a waste?
• How about when children have cancer? Does he think the money spent developing treatments for cancer is a waste when it saves the lives of children who have their whole lives ahead of them?
• How about the money spent on developing treatments for cancers with the best prognoses? For example, nearly all men with testicular cancer are cured. Is the money spent on curing testicular cancer a waste?
• Can he not see that his statements about the different ways to die are so broad they are completely meaningless?
• If he were diagnosed with cancer himself, would he refuse treatment, on the basis of his argument that dying from cancer will potentially save him from a more horrible death?
• Similarly, if someone he loves is diagnosed with cancer, will he encourage them to refuse treatment on the same basis?

My alternative suggestion

Lets raise more money for research in to cancer, cancer treatments, and genetics. Let's do all we can to fight this disease that causes so much pain and suffering and save as many lives as possible. These are people we are talking about. Mothers and fathers, daughters and sons, sisters and brothers. Husbands and wives, boyfriends and girlfriends. Friends, neighbours, colleagues. Let's fund as much research as we can to keep the people we love well and with us for as long as possible.

I'm here in 2015... with three resolutions

I don't normally bother with new year resolutions but this year I've decided to give some a go. Why? Because I looked back at 2014 and felt glad to see the back of it. I was diagnosed with cancer in 2014. I'd also looked back on 2013 and felt glad to see the back of it. It was a year of probate hell. I'd also looked back on 2012 and felt glad to see the back of it. It was the year my mom died. And so it goes on... I realised that in my mind, recent years have been defined by the things that happened in them. All things that were out of my control: people I loved being ill and suffering, people I loved dying, people I loved losing jobs etc etc.

A year is a long time. I don't know what's going to happen in 2015, there will be plenty of things happen that I can't predict and can't control. I don't want 2015 to be defined by those things. I want 2015 to be defined by the way I respond to what happens, the choices I make, the ways I behave. So here are my three resolutions.

1. I won't be held back by fear. I'd rather fail than not try. This means I might reach the end of 2015 and look back on lots of personal failures! But at least I won't look back and wonder "what if?" Ultimately I think my fear of "what if?" has become my biggest fear.

2. I will be honest, and I will be true to myself. This means I'm putting myself in a vulnerable position, open, exposed, at risk of judgement, getting hurt. But it's the way I have to be, and I really think it's the right way to be.

3. I will seek out opportunities to be kind to other people every day. I've learned through experience myself this year how much difference a kind word or a kind thought can make. There are times I've been very low and just a little bit of kindness from other people has picked me up and got me through. Kindness doesn't take much but it does a lot.


So here's to 2015. I hope it's a happy one!

Escaping Rock Bottom

Recently there was a final straw and I crash landed in the place known as Rock Bottom. I spent about a day and a half there. It started in the night. I was waking up several times an hour with hot flushes. Each time I woke up to the same thought on repeat. I don't like being alive, I don't want to be alive if this is what my life is. I'd briefly fall back to sleep, but soon wake again, boiling hot and with that poisonous mantra running through my mind.

I couldn't shut the thought out. It was there every time I woke up, ready and waiting for me. I didn't know what was happening to me, and it was frightening. Not because I was at risk of harming myself - I wasn't (this wasn't about wanting to die, it was about being exhausted and burned out from a life that has been dominated over the last four years by death, illness and other stress) but because I was in such a dark and oppressive place and I didn't know the way out. Have you read Touching the Void by Joe Simpson? (If not you must, it's excellent.) I felt like my rope had suddenly been cut and I had plummeted into a pitch black crevasse: alone, exhausted, empty, broken, hopeless.

While I was at Rock Bottom I had a hospital appointment for an ultrasound scan to check the size of my tumours after chemo. I'd requested it because I didn't believe the oncologist had really felt a "hole" where my tumour was when she examined me a few weeks before. I knew of a couple of people whose chemo had not been having the effect it should and I was worried. The appointment was almost two hours behind schedule and I spent that time sat in the corridor waiting area, gown on, cold, doing all I could to not start sobbing like I had been at home. Finally I was called through and I lay there on the same hospital bed in the same ultrasound room where I'd laid five months before for the "peace of mind" ultrasound scan that diagnosed me with cancer. The woman doing the ultrasound scan (sonographer?) scanned away. She kept going over to the big screens to check my original scans. Scan, check, scan, check. She had the nurse turn the lights on so she could see the scars and check exactly where my original biopsies had been taken. She scanned some more. Then she said "Sarah......." and paused. My heart stopped and my stomach turned. "You've done really, really well on chemo. I can't find anything at all." I burst in to tears. She showed me the images - the originals and the new ones. The tumours were gone.

Back in the corridor and more waiting for my next appointment which was with my surgeon. The tears stopped and I knew I should be relieved and excited about the scan but I felt numb. Despite that, the appointment with my surgeon went well. We discussed and agreed what surgery I was having, and I found out my surgery date. I stood topless in front of him and he got a marker pen and drew all over me and took photos. He reassured me about surgery, about time in hospital, and about recovery at home. We said goodbye - the next time I see him will be the day of surgery.

When I came away from the hospital, I soon realised I was still in the crevasse. The crevasse was my reality and the time in the hospital with the nurses and my surgeon were a temporary dreamlike escape. I felt guilty. My chemo had obliterated my cancer, and I didn't even like being alive or feel that I had anything to live for (beyond "possibilities" or "opportunities" or "hope"). My friend on the other hand had just found out a new tumour had grown while she was having chemo. She has a family, a husband, children. She was the one whose cancer should have been obliterated by the chemo, not mine, because I didn't even care any more. Things should be different. This wasn't right, or fair.

I went to the doctor feeling like I'd lost my mind. It wasn't my usual GP so I had to explain everything that had been going on. Turns out being diagnosed with cancer, spending months being injected with loads of chemo poisons and other drugs like steroids (some of which seriously mess with the hormones and chemicals in your body), stopping and starting medication because you're forgetful, along with being ill and stuck at home, hearing bad news and being in other difficult situations, would catapult anyone to Rock Bottom. The doctor didn't think I'd lost my mind, she thought I'd been through too much.

Chemo was finished and the drugs should be working their way out of my system, I was getting better from the cough/cold I'd had, and I'd already signed back up to counselling at Coping with Cancer (and thanks to a miracle, with the legend of a counsellor I had before) so the doctor told me to be nice to myself, and to see and talk to my friends asap, even if I didn't feel like it, and tell them how I was really feeling, and not worry about making them worry about me.

I did just that. I offloaded to a few of my close friends, and also on the YBCN (Younger Breast Cancer Network) forum - these are the women who really understand the crap I'm going through. I hoped for understanding about how hard things had been. I got bucket loads of that, but I also got a surprise. People started saying really nice things about me that I didn't expect. I had been feeling completely shit about myself and my self esteem had nosedived to zero. Suddenly and unexpectedly I was feeling loved, appreciated, worth something. I can't put in to words how much some of the things people said meant to me.

I kept busy over the following few days, including meeting up with some of my YBCN friends for lunch and drinks, and having the annual Christmas eatathon with some of my oldest and bestest friends. And then I was adopted by my amazing friend Emily and her family for Christmas. I spent a week as part of a big, warm, loving family and it was incredible. I had a good time, I met some people who inspired me, I learned things. 

Rock bottom already seems like a long way away now. But if I end up there again, I know how to escape. Tell the people who care about me where I am. They will help me get away.