Saturday, 31 January 2015

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.

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