Angelina Jolie's ovaries and me

Two years ago Angelina Jolie told the world about her medical choice to have a preventive double mastectomy. She has a fault in her BRCA1 gene. Put simply, BRCA1 is one of the genes responsible for stopping cancerous tumours from growing in breast tissue. A fault in the gene means it doesn't do that job properly - this put Angelina at an 87% risk of developing breast cancer. Having the double mastectomy reduced this risk to 5%.

Angelina's faulty BRCA1 gene also put her at a 50% risk of developing ovarian cancer. Today she has shared with the world, in her article Diary of a Surgery, that she has now had her ovaries and fallopian tubes removed in order to reduce (almost entirely eliminate) this cancer risk.

What Angelina has written in Diary of a Surgery has shaken me up.

I have a faulty PALB2 gene. In the same way that Angelina's faulty BRCA1 gene put her at high risk of breast and ovarian cancer, my faulty PALB2 gene puts me at high risk of breast and ovarian cancer. Of course, I've now had breast cancer, so that risk has already become a reality! My medical team are doing all they can to reduce the risk of that same cancer coming back - that's why I've had 6 cycles of chemotherapy, a mastectomy, and (I'm about to start) 3 weeks of radiotherapy. As well as reducing the risk of the cancer I already had coming back, the mastectomy reduces the risk of a new cancer in that breast. I am having the other breast removed to further reduce my risk of a brand new breast cancer as soon as my body is healed from radiotherapy.

Having a double mastectomy was not a difficult decision for me to make. In all honesty, it's possibly the easiest and quickest decision I've ever made in my life. 

Simple as that. I don't want to die, and my breasts were going to kill me. Good riddance. (Besides, reconstructive surgery means they are still kind of there - albeit minus a nipple and with a couple of scars.)

The ovaries on the other hand have been a very different matter, for two reasons; one is about health, and one is about children. Having your ovaries removed puts you instantly in the menopause - this means amongst other things that you can't have children, and that you are at an increased risk of osteoporosis and heart disease.

I've done a lot of thinking about these three things and I've had a lot of arguments about these three things. These are my personal views:

Heart disease: I'm not too worried. While the family I had has been obliterated by breast and ovarian cancer, hearts have always been healthy. Big, strong, healthy hearts (it's all the love, man!) I don't smoke, I do exercise, I can look after my heart ok.

Osteoporosis: I am worried about this. There's less I can do to prevent it, and from what my doctors have told me, it's more of a risk. If I do live for a few more decades, I'll have to be really bloody careful not to trip over my own feet and continually walk in to things the way I do now (Twice in one day last week I walked in to a door - forehead and hip. Clumsy idiot!) The sooner I have my ovaries removed, the more the risk of osteoporosis later in life increases, so there's an argument here for holding on to them as long as possible.

Children: This is the trickiest one. Some of my medical team seem pretty obsessed with me keeping my ovaries so that I have the option to have children in a few years time. I disagree. I don't think I should have children. First of all, if I get pregnant and there are any of my original cancer cells left in my body, it will be asking for trouble in the same way that waving a blowtorch round in a petrol station is asking for trouble. Secondly, there would be a 50% chance of the child inheriting the faulty copy of the PALB2 gene and facing a high risk of cancer later in their life - particularly if I had a girl. If in a few years I am still alive and kicking, and I'm in a relationship, then I'd love to consider the possibility of adoption. But right now, I'm single and I'm still undergoing treatment for breast cancer and so I guess staying alive has been my immediate concern. But the combination of hassle from others about keeping my options open about having children, and my concern around risk of osteoporosis meant that when I was discussing my ovaries with my oncologist registrar a couple of weeks ago, I said I'd keep hold of them for now. Everyone tells me the chances are I won't get ovarian cancer in the next five years.

Then I read Angelina's Diary of a Surgery article today, and as I said, it's shaken me up.

"...two weeks ago I got a call from my doctor with blood-test results... “There are a number of inflammatory markers that are elevated, and taken together they could be a sign of early cancer.” I took a pause. “[the blood test] has a 50 to 75 percent chance of missing ovarian cancer at early stages,” he said. He wanted me to see the surgeon immediately to check my ovaries.

I went through what I imagine thousands of other women have felt. I told myself to stay calm, to be strong, and that I had no reason to think I wouldn’t live to see my children grow up and to meet my grandchildren. 

I called my husband in France, who was on a plane within hours. The beautiful thing about such moments in life is that there is so much clarity. You know what you live for and what matters. It is polarizing, and it is peaceful.

That same day I went to see the surgeon, who had treated my mother. I last saw her the day my mother passed away, and she teared up when she saw me: “You look just like her.” I broke down. But we smiled at each other and agreed we were there to deal with any problem, so “let’s get on with it.”

Nothing in the examination or ultrasound was concerning. I was relieved that if it was cancer, it was most likely in the early stages. If it was somewhere else in my body, I would know in five days. I passed those five days in a haze..."

Angelina goes on to describe how the PET scan was clear meaning that while early stage cancer was still possible, at least it wasn't a full-blown tumour. She then had surgery to remove her ovaries and fallopian tubes. During surgery a benign tumour was found, and luckily that was all.

Reading all this took me back to my own diagnosis, and to the emotions you get when you are waiting for test and scan results. When I say emotions... I mean fear. You know that you are high risk, and those test and scan results are going to mean the difference between living and dying.

I tell people all the time to listen to their gut feeling when it comes to their own bodies. I've been right about mine enough times. And Angelina's article today has prompted me to pull my head out of the sand I buried it in in order to get some peace from everything "cancer" and the opinions of everyone else about whether or not I should have my own children, and go back to the oncologist and demand my ovaries be chopped out as soon as possible. The left one in particular, I don't trust it. It's been a troublemaker in the past.

I don't want osteoporosis, but more than that I don't want to die from ovarian cancer.

I do want children, but I don't want to get pregnant and risk my life.

Like Angelina, I want my ovaries out.

The science edition of 100 reasons why I'm thankful I was diagnosed with cancer (Part 4)

It's been a while since I've written one of these! Truth is, I don't think there was a single moment in December when I was thankful I'd been diagnosed with cancer (I think if I'd tried to write this in December the post would have turned in to "100 reasons why I hate everything and really don't give a shit about whether I live or die"). January has been far less miserable, but very busy, what with being all chopped up and stuff.

But I have some things to add to my list now!

As a reminder (to myself more than anyone else) here's what I'd got so far:

1. My friends have been shining so brightly that they dazzle me every day.
2. I've made new friends who I would never have met if it weren't for cancer.
3. Experiencing the feeling you get as a result of random acts of kindness from strangers.
4. I'm learning to trust my own gut feeling.
5. I'm becoming less afraid of "What if?"
6. I've discovered that one person (me) can make a difference.
7. I bounce back a bit quicker.
8. I'm writing.
9. I get to reduce my risk of cancer.

(All my previous reasons to be thankful posts can be found here if you're interested.)

So... some more to add! This lot are all a bit sciencey. I have some non-sciencey ones to add too but I'll write them in a separate post.

10. I know my enemy now
This is linked to number 9 on the list. Before I was diagnosed, because of my family history of cancer, I went through genetic testing to check my BRCA1 and BRCA2 genes for mutations. Nada. I was diagnosed with cancer, and the genetics experts rolled their sleeves up and studied another load of my genes. Worth the time and effort! I have a mutation in my PALB2 gene. I'm the first PALB2 mutant to be found in Leicestershire! And I assume Rutland too! (By the way, it's pronounced Pal Bee 2, in case not knowing that kind of thing bothers you like it does me. The others are Bracka 1 and Bracka 2.) This is good news because knowledge is power. I've been officially informed my PALB2 mutation puts me at high risk of breast cancer (no shit, sherlocks!) but I will almost eliminate the risk of another breast cancer with the preventive surgery I'm having. I've been told it might increase my risk of ovarian cancer (more on that later) but I can have my ovaries out before they try and kill me, eliminating my risk of ovarian cancer too. I've been told it might slightly increase my risk of pancreatic cancer, but that's not certain, and if it does it isn't likely to be by enough for me to need to be worried about. So there are no new immediate implications, but in the future, as more is known about PALB2, myself and my doctors can respond accordingly if ever needed. This gives peace of mind. No longer am I blindfolded and in the dark, fighting an unknown enemy. The blindfold is off, the lights are on, got my armour, got my army.

11. Vindication. Mom, Nanny, May -  it wasn't our fault.
When you get cancer, you wonder why. When you get cancer, other people wonder why. What caused it? What did you do wrong? It's too late for me to apologise to my mom, but if she were still alive, she'd be getting a massive apology from me right now. After she was diagnosed with breast cancer, I judged her way too much. I would lecture her about what she was eating, tell her off if she had a drink, nag her to exercise more. (Yep - me. The one who responded to a cancer diagnosis by sitting on my arse eating and boozing for months on end. Hypocrite.) After I was diagnosed with cancer myself, even though it was clear there must be some sort of increase in risk because of a genetic factor, I still spent a lot of time looking back over my twenties and kicking myself. I drank too much. I ate too much chocolate. I didn't exercise enough. I microwaved things in plastic tubs. I lit too many scented candles. What about that time Nico got fleas and, freaked out by that advert that implies if your dog brings one flea in to the house, within 3 minutes there'll be millions of them breeding all over your bed and on your sofa, I treated the entire house to several cans of something that was clearly cancer in an aerosol can.
Now I know that my cancer, my mom's cancer, my nan's cancer, my great grandmother's cancer were all caused by the pathogenic mutation in our PALB2 gene. It wasn't our fault. It's nice to know that. It's good to finally have an answer.

12. I'm your new PALB2 advocate!
I might be the first PALB2 mutant discovered in Leicester but I won't be the last. And it's not just Leicester. At the moment, there isn't any routine testing for PALB2 mutations on the NHS like there is for BRCA1 and BRCA2 in high risk families. This means that not many PALB2 mutants will have been identified in the UK yet. But my fellow mutants are out there! Somewhere!
I'm nosey, I'm stubborn, and I'm a bit obsessive. I researched and read a lot about hereditary breast and ovarian cancer (HBOC) on the internet and in books, I did a course on cancer and genetics, I repeatedly grilled my genetics consultant. Ultimately I believe this saved my life. The understanding I had developed about HBOC meant that when I got a negative BRCA test result last May, it did not put my mind at ease. I still believed I was at high risk and two months later, when I noticed that subtle wonk in my nipple, I insisted on urgent referral for an ultrasound scan. Thank fuck I did.
Yesterday I went to see my genetics consultant. I enjoyed a smug "I told you so!" and he said it was all quite remarkable. Most people go for genetics counselling, get a negative test result, feel happier, and basically go away. He said he hadn't known what to do with me because I was the opposite - as things proceeded, I became unhappier and more concerned. He was then stunned when I was diagnosed with cancer so soon after that test result. That's (unsurprisingly) never happened before. Turns out this stresshead patient's gut feeling was right. I've gone from being the patient he didn't know what to do with, to the patient who he'd like to speak at some of his events later this year. Apparently I am a modern patient, who communicates and engages in a modern way! He'd like me to share my real life story, the patient's perspective on HBOC/cancer. I'm in! I want as many people as possible to know my story but especially those who have a significant family history of breast and ovarian cancer but no BRCA fault in the family. I want people to know that you can learn a lot yourself, the information is out there if you know where to look (and can get a bit of help at times to translate it). That information can help you to better understand what the experts are telling you and play a more proactive role in your own healthcare. I want people to know that it is important to be aware of the details of your family history of cancer. What happened in the generations before you is relevant to you.
And, in addition to this, over the coming years I will follow research and knowledge about PALB2, translate it in to plain English, and post it on the internet for others. You never know, it might be just what someone else like me is looking for and needs.

13. I get to contribute a little bit to science
Or, more accurately, my DNA and my tumour get to contribute a little bit to science. I understand there's a very clever man in Cambridge itching to get his hands on some of my actual cancer to have it studied. Exciting stuff! He wants to know things like what impact my funky PALB2 had on my BRCA1. I hope someone at Glenfield has kept a bit of my cancer somewhere and is willing to share it.
Also, my family history will now be included in data about PALB2 and I am so glad. At the moment the line is: a PALB2 mutation increases your risk of breast cancer but we aren't sure whether to suggest preventive surgery for that, and we think it might increase your risk of ovarian cancer but we aren't really sure yet if that's worth being worried about. Well, scientists, add my family to the list of PALB2 families where there's ovarian cancer, and where there's early onset breast cancer. I don't have a PhD in cancer genetics, but I am telling you with confidence, the mutation in my PALB2 increased my risk of breast cancer at an early age, and it increases my risk of ovarian cancer. The sooner the scientists have more data like the data from my family, the sooner they will be able to make more accurate estimations of risk, leading to appropriate recommendations for risk reduction in relevant families.


If I had not been diagnosed with cancer, my PALB2 gene would not have been examined, and none of the things in this post would have happened/will happen. I am especially thankful for number 13. This might be the best thing of all to come from my own cancer diagnosis. Even if my cancer comes back and kills me, what the scientists learn from it might contribute to saving the lives of other people in the future. Wow. Just wow. Science = wow.

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.