My husband found out last year that he carries the BRCA1 gene mutation (his sister died of secondary breast cancer at 49). Both our children got tested and both are also positive. My 29 year-old son has had great support and advice from the NHS genetics department in the area where he lives. My daughter, however, has found the whole experience very frustrating and upsetting from the start; she was made to wait ages and go through all the bureacratic hoops to get tested, despite her risk being 50%. She has had one appointment (early on) with a genetics counsellor and has found it hard to contact them to get another to properly talk through her options. She is now 27, in a steady relationship and, in my view, needs to make some decisions soon about having children (which will have to be IVF if she wants to avoid passing on the gene) before it becomes important to look at risk-reducing surgery if she wants it. However, as a result of the lack of available guidance, she has just shut down the whole subject for now as too upsetting to think about.
I have tried to look for information on the internet, but it all seems to be about having mastectomies and ovarial removal instead of a full exploration of all the possible options - such as increased screening or fallopian tube removal - and the age at which these things become critical. I would love to be able to point her to some resources that would help her work through how to approach this massive change to how she expected her life to be. At the moment I feel helpless as her mother to be able to make this better for her.
I would really appreciate it if anyone has found some useful resources for young women in my daughter's position, including any telephone counselling that might be open to her her, having been failed so miserably by her local NHS services.
Hi
Your daughter might want to ring and speak to Macmillan (number below) and see if they can offer her some advice.
I've done some searches as well and, as you say, it does seem to be all about preventative mastectomies etc.
Hopefully there may be one or two ladies in the BRCA group who have had to make similar decisions, but in the meantime, perhaps a call to the Macmillan line might point her in a new direction.
Kindest wishes,
