Genetic testing

Hi Cat123,

I'm sorry to hear your're going through this worry and I hope your Mum is doing ok on her treatment. It's a stressful time, and the fear of the unknown is always a kicker in these situations.

The GP's are sometimes clueless about the best procedure for querying a potential mutation within a family. 

I would suggest it best for your Mum to pursue getting genetic testing done first, as they can pinpoint the exact type of cancer and check for any mutattions, depending on your oncologist/breast care specialist usually they suggest this on diagnosis as they can then target the treatment plan to the cancer & consider the mutation and risk factors alongside.

This will then help you ask for a referral to a genetic councillor & then ask for genetic testing yourself. They can then use your Mum's results to check your DNA for the mutation.

I would say you are both candidates, with having cancer in 2 directly related generations on your maternal side. Back when I went through this with my Mum in Leicester we were lucky enough to be under Dr Barwells care at Leicester University hospital, and he is a leading specialist in the field. Initially I was referred to him, but we had to go back and get my Mum referred first for the reasons I've explained above.

It's not straightforward and sadly it will take time, but you both need to push for it if it's what you want.

If a mutation is found you should both then be offered extra screening and eventually risk reducing surgeries.

I must just add a mutation doesn't guarantee cancer, ultimately to be forewarned is to be fore-armed. I consider myself lucky to have this knowledge and know my risks so I can do everything I can to stay well and healthy.

Love & Light,

Anne

Hello Cat123, yes everything that AnneMariee1978 has said is in agreement overall with my experience. I do also want to emphasise that having a mutuation does not guarentee cancer will happen and if you do have it there are options on what you will choose is what you want to do.

I wish you all the best through this stressful time.

Marie

Thanks Annmariee1978 for your reply and with all the information, sadly my mum’s now in palliative care and is bed-bound at home. She didn’t have much treatment or any surgeries after finding out late in her diagnosis last August, having secondary cancer.

Only finding out a month before she became unwell, then spending few months in hospital.

Her breast doctor said it was inoperable, and recently discharged her care.

The oncologist doctor has decided to reduce stopping her treatment, after being on it for a few months. only treatment she’s on is the hormone tablet.

When I recently asked my GP how do I find out which BRCA 1 or 2 gene my mum has, he said to find out from Mum’s breast or the oncologist specialist doctors. I felt that I wasn’t informed much with mum’s care as I hadn’t met the doctors, when she saw the them during the ward rounds in the mornings, while she was in the hospital and now she’s home on palliative care.

I recently discussed it with my Dad about getting tested, he agreed for me to go a head to go for it, it feels I’m the only one that wants to go a head with it, as I have 2 older brothers. xx

I'm so sorry your family is going through this difficult time. 

It's definitely a personal choice all you can do is what's right by yourself ultimately and once you have the information either way it may help extended family come to terms with everything that's been going on.

Whilst your Mum has been discharged from her Oncologist, she's still within her rights to request her notes and diagnosis? If your Mum is well enough you may be able to call the department that dealt wuth your Mum's diagnosis and treatment with you taking the lead on the call and your Mum available to give verbal authorisation?

Alternatively you can try talking to your Mum's GP to that effect also, they may have access to that information.

Last;y you could write a letter to the Breast Care Team & Oncologist and again ask your Mum to co-sign giving authorisation to release her notes?

It will mean you can ask for your referral with your Mum's full diagnosis and it will ultimately eventually make the whole process move along for yourself at this anxious time.

Wishing you all the best xxx

commonslibrary.parliament.uk/.../

This is good to know annemarie1978 about rights to access medical notes, I'd no idea. Thank you