Monday 4 January 2016

I'm a Gene-ius

On Wednesday I got a phone call from my genetics doctor. It's a phone call I'd been waiting for for the last eight weeks. I actually expected it before Christmas so I was getting more and more apprehensive that he hadn't yet called me.

'Hi Kirsty. I have the results for your genetic testing' Are you ok to take my call?'.

I don't suppose it's a good result if he's asking me if I'm 'ok' to take his call I thought to myself.

I actually thought it was my radiographer calling to arrange my next appointment. I'm not sure I'm ready for this. Not at 10:00 am on a Wednesday. I'm still in my bunny pyjamas and Christmas slippers for crying out loud!

Maybe I should sit down. Is this news I want to hear whilst sat downstairs on my own? Maybe I should wake Michele up first? Maybe I should ring my mum? Shit do you think Doctor Genie will let me place him on hold whilst I ring my mum?

It's been ten weeks since I had my appointment with Doctor Genie. 10 weeks to contemplate what the results might be.

I was put in for genetic testing right at the start of my diagnosis. I was questioning Dr S about whether it was my fault I had cancer. My cancers ER positive. 'Is it because I'm on the pill?' I asked. 'No it's likely to be genetic. I'll put you in for genetic testing if you like?'. 

Not everyone gets put forward for genetic testing. Testing is expensive. It's one of those lovely 'benefits' of having cancer at a young age. 27 years old + Uncle who had prostate cancer = genetic testing.

At the appointment Doctor Genie and I discussed the form I filled in prior to our meeting. On the form i filled out questions about my family history. There's no history of breast cancer in my family. My Uncle (On my mums side) had prostate cancer quite recently. My Grandad (on my dads side) died of lung cancer. (Doctor Genie doesn't think this is related).

Doctor Genie showed me a detailed family tree he had drawn up using the information i wrote on the form. 'I forgot to say on the form that my Dads Uncle had testicular cancer'. The Doctor quickly added another line to the tree. 'That's probably not related but we'll add it to the form anyway' he said.

He then went on to tell me about the genes he will be testing me for. There are two genes that are particularly associated with an increased risk of breast cancer and ovary cancer called BRCA1 and BRCA2. The doctor didn't seem overly impressed that all I knew about these genes was what I had read about Angelina Jolie in Cosmopolitan. 

If I do have either of these genes there are certain options that would become available to me to reduce the chance of me developing breast cancer again. It would be recommended I have a double masectomy. I would also need to consider the removal of my ovaries and fallopian tubes. Normally ovary removal would happen after the age of 35 but as my cancer is ER+ there is an argument that it would be better to do this earlier.

The other gene I will be tested for is the TP53 gene. At this point Doctor Genie told me specifically not to Google this. I always cringe when people tell me not to Google. As long as you stay away from all the 'cures for cancer' Google actually has a lot of useful information. TP53 is associated with an increased risk of breast cancer in younger people. It's also associated with other types of cancers in young people such as leukaemias, brain tumours and cancers of muscles or similar tissue called sarcomas. Yeah. Maybe I won't Google this. 

The problem with the TP53 gene is there wouldn't be any preventive measures to take if I had it. They can't remove my brain or muscles like they can my breasts. 

There are further negative aspects of genetic testing such as making it harder to obtain insurance products such as life insurance in the future as well as greater anxiety for myself and family members. 

The latter I struggled with. 'If I test positive to one of the genes would it effect my extended family?' I asked. 'Yes possibly. They would then be allowed to come for genetic testing too if they like. There would also be a 50% chance you would pass it on to your children'. 

'So you would let my grandparents, aunties, uncles and all my cousins from both parents sides know'? I questioned. 'No we can't discuss your results with your family due to patient confidentiality. It would be up to you to tell them' Doctor Genie explained.

'Do they have any children?' 'How many?' The doctor started adding names to the family tree. 'Oh...your writing their names down?' I couldn't help but think I should have asked the permission from all my family members before I came to the appointment. I didn't really think about how many members of my family this would effect. Maybe I should have made a group on Facebook? I wonder how many of my extended family are on Whatsapp? 

'Brilliant. Maybe I'll put it in their Chistmas cards'. The Doctor laughed awkwardly. I laughed awkwardly too. I'm not sure he could tell if I was serious or not. I'm not sure if I knew whether I was serious or not. 

This is the first time I'd thought about how this testing would effect not only my immediate family but also my extended family. Of course even if I do test positive to any of these genes it doesn't mean that all of my family would have the gene. Although all my blood relatives could do and would need to decide whether to be tested. 

How would I go about telling them? Could we have a family doo for both sides of the family? Maybe Grandma could make Heavenly Ash like she used to and we could all sit down and discuss the prospect of having cancer in the future? I've only cried a couple of times since diagnosis. The second time was after this appointment. 

'Yes I can take the call' I said to Doctor Genie.

'You have tested negative to all genes tested'.


'That's good isn't it?' I questioned. 'Yes most people prefer a negative result. It means you can continue with your treatment and not have any further surgery.' The doctor explained.

There's a chance my cancer may still be genetic. Doctor Genie explains that they know of other genes that are associated with increased risk of breast cancer but they don't yet test for them. I can put myself forward for research studies to see if I test positive for any other genes. However the results of these tests won't be available within a few weeks like this test. It would be more like years.

So for now I'm trying to deal with the fact that my cancer isn't likely to be genetic. That I have cancer by chance. 

I can't help but think that means that it is some how my fault that I've developed cancer. Do I have cancer because I've had too many glasses of Pinot? Eaten too many steaks? Or enjoyed too many bacon butties on a Saturday morning? Therefore should I be making lifestyle changes so that I don't get cancer again? 

Of course this could all change once I get involved in the research studies and receive further results in a few years time. For now though this is just something I'm going to have to try and deal with.

Blogger templates by pipdig