Palb2 gene

[BlissC]

Hi J,

How did your appointment go today? I hope it went well and you got positive news from your consultant.

Take care, Bliss xx

Hi cuddles80,

It's going to be a tough week for you what with your mum's mastectomy and knowing you also have the gene, plus with your appointment coming up too, and I'm sure the next few days will feel never-ending to you. The only advice I can give really is to try and keep busy and find things to distract you, though I know that it's very difficult not to dwell on it. Also, don't feel guilty that you're upset about your mum's cancer and the mastectomy. Cancer affects the whole family, and while it's awful for the person with cancer, it's can be difficult for those close to them to deal witth too. I remember when my mum had her mastectomy, the evening before she went into hospital the two of us staying up late because neither of us could sleep and couldn't concentrate on anything, playing her electronic keyboard (badly!) and singing (badly!) and drinking Baileys (lots of!). My dad couldn't understand it, but it was our way of dealing with it. I see my GP on the 16th too, and I'm hoping she might have heard something back from the hospital. At the moment apart from me waiting to hear from the hospital, my mum's waiting for the results of a CT scan and to see the oncologist because she's started coughing badly, and with her having secondaries in her lungs, they're concerned whether they've changed at all.

I'm waiting for other follow-up appointments with consultants too and the results of an MRI scan of my spine, so I'm getting in a state about waiting for those as well. I have a number of long term conditions and I'm disabled, which is another reason I want a mastectomy, because I don't cope well with any additional illness on top of my on-going health problems so if I developed breast cancer I know I wouldn't be able to cope with chemo/radiotherapy. Then I got home from work today to find an appointment had come in the post for my annual mammogram! That's always stressful, just waiting for the results, but I've had breast problems in the past and a few years ago was getting a discharge on a regular basis which they thought was due to infection so I had a ductal excision (removal of the milk ducts) on one breast. Unofrtunately it didn't stop me still getting a discharge occasionally and I still also get breast pain. Every doctor who's ever examined me has always commented that I have naturally lumpy breasts, so though the annual mammogram tells me all's fine at that particular point, I spend the rest of the year until the next one trying to remember every month when I check my breasts whether the lumps I can feel are in the same place as the previous month or are new....life would be so much less stressful without breasts!

Anyway, you hang on in there, and I'll be thinking about you on Thursday.

Take care, Bliss. xx  

[cuddles80]

hi BlissC thanks for replying. Its nice knowing someone else understands what im feeling. The waiting is the worst bit and tbh this week is going to be the one that tests me the most as its my mums double mastecomy on thursday. Still feel a bit numb about it all. I've got the genetics team again on the 16th Feb to discuss things a bit more in depth with me. I think its disgusting that they wouldn't test you and can totally understand why you would feel like a ticking time bomb. My aunt was diagnosed at 40 so give it a couple of years and ill feel the same way xx

[BlissC]

Hi J,

I'm in Derbyshire, so not a million miles from you. 

My mum was initially diagnosed 16 years ago, and was told hers was Stage 1 and non-aggressive. Her consultant and the whole team were so shocked when it came back, and then after being clear for another 14 years to find it's now Stage 4 and in her lungs and lymphatic system. For now she's doing okay on medication and it's not spreading further but no-one can say how long it'll stay that way. From the first recurrance a couple of years after her initial diagnosis though I was convinced that there was something genetic driving her cancer because her consultant said her type of cancer normally doesn't recur. 

I have a feeling that one stumbling block I'll probably hit is that my mum hasn't had genetic testing. At the moment I haven't told her about my PALB2 result because I know it'll upset her and she'll blame herself for me having it, and what I really don't want is her knowing that I have the defective gene but them saying no. My GP said it'll depend on what the Trust's protocol is with it being PALB2 rather than either of the BRCA genes, but that if my local hospital say no, other hospitals in the region may have different criteria.

You're probably rigtht about them eventually not doing preventative surgery, although the way I see it is that in the long-run it saves them money. If you do go on to develop breast cancer they still have the cost of surgery plus chemotherapy, radiotherapy, and/or medication, not to mention follow-up appointments and monitoring, all taking up consultants' and other medical staff's time. 

I hope your appointment on Tuesday goes well.

Bliss x

[tommypuss]

Hi Blissc
I know just what you are going through , it does feel like a timebomb waiting to go off.
My mum died 35 years ago I miss her every day of ovarian cancer she had 7 sisters that had breast cancers too. I was lucky my dr sent me to a genetic consultant 10 years ago , I had asked for testing yearly for my ovaries which involved a blood test and ultrasound 2011 I had my ovaries removed and I thought I was safe . 2016 I received a letter from the genetic consultant to say I could have testing without having cancer . We had a family discussion I have grown up children and I was tested I have brca 2 . At the time I was waiting for a prolapse operation and I had recently lost my brother with pancreatic cancer , so after seeing the breast consultant I wanted to wait till it was over . In between my daughter was tested and she carried the faulty gene in October 6 weeks after seeing her consultant for a second time first time was June , she had a double mastectomy, and implants.She is doing great everything looks like normal and is happy with the way it went . She also as a daughter and didn’t want to risk getting cancer so young.
I’m seeing my consultant again on Tuesday and I want to go down the same route I think eventually prevented surgery will stop as the money isn’t there.
What area are you in? I’m East Yorkshire.
I know it is always there at the back of your mind , I constantly think about it first thing in a morning in the day and when trying to go to sleep.
It’s on a computer when you turn it on in the newspaper magazines tv. Can’t get away from it .
Keep in touch. J

[BlissC]

Hi Cuddles80,

I can sympathise with you. My mum was initially diagnosed 16 years ago and my grandmother too had breast camcer when I was a child (she'd also had two aunts with breast cancer too). To cut a very long story short, I tried on more than one occasion to persuade the NHS to do genetic testing on me, but was told I didn't have enough of a family history to qualify for testing on the NHS. I eventually managed to save up enough to have genetic testing done privately and discovered last year that I have an abnormal PALB2 gene.

The genetic counsellor advised I should carry on having annual mammograms, which I've been having since I turned 40 because of my family history (I'm 45 now), and advised that my sister also has annual mammograms. Given my family history though, and other complicating health factors, I've decided that I want a risk reducing mastectomy. My GP, who knows me well and knows my family history, is fully supportive, and has contacted the breast care team at my local hospital to see if they'd be willing to consider it, but so far neither she or I have heard anything back from them, and it's been a couple of months now. I see my GP again in a couple of weeks, but it's just going so slowly! 

Every time I switch the TV on there seems to be something about breast cancer at the moment, and as both my mum and grandmother were diagnosed at 50, though it may be irrational, I feel as though I'm a ticking timebomb. Doesn't help that it's about time for my annual mammogram again, so it's just constantly on my mind at the moment, so I can understand that you're struggling. It's a huge shock when it's your mum that's diagnosed - different to other people that you aren't so close to, and then to find you have a defective breast cancer gene as well. I find it's the waiting that's one of the worst things - waiting to see a doctor, waiting to be tested, waiting for the results - and now I'm waiting again...

You're not on your own though. I know it feels like it a lot of the time, but there are others out there in a similar situation and in my expereince of using health related forums online there are usually people out there willing to share their experiences. 

[Anna_BCC]

Hi Cuddles80

Sorry that you havent had a reply as yet.  In the meantime you may find it helpful to speak to one of our specialilsts on our free Helpline, 0808 800 6000.  Or alternatively you can post a question in the Ask Our Nurses area of the Forum.  They will reply to you there.

Best wishes
Anna
Digital Community Officer

[cuddles80]

Hey my mum was diagnosed with breast cancer at the start of the summer holidays last year. Was a massive shock to all especially as her sister had it 17years ago. They then discovered my mum carries the palb2 gene so me and my brothers got tested. My results came back and i carry the palb2 gene, im waiting for a breast MRI.im finding it all a bit confusing. Mums slowly in the mend and has her double mastectomy booked for the 8th Feb, finding it all a bit much and didn't know if any of you ladies or gents are struggling too