Palb2 gene

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

Hi Cuddles80

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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. 

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

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