My Nightmare Just Got Worse!!!!

Hi, some of you may have seen my other posts about my breast cancer (DCIS & Mucinous) and the fact that my 4 year old son is also undergoing chemotherapy at the minute too. Both me and my son have Li Fraumeni Syndrome, a gene defect which means we have a greatly increased risk of cancer. I also have two daughters (3years & 7months) who will be getting tested for the gene defect at the start of next year.

Me and my partner had decided that we wouldn’t have any more children naturally (I would love 5 or 6) because of the gene situation as it is 50/50 that any of our children will inherit the dodgy gene and we would look into having IVF with genetic screening but this is where the nightmare gets worse - I’m pregnant.

I’m completely in shock and very very confused. I think I’m just over 5 weeks. I have so much going on in my life and going round in my head but even if I hadn’t just had my BC diagnosis I would still be just as confused about what to do. We were told that if we ever fell pregnant we could get prenatal testing done and then take it from there which I guess is something I need to talk to the geneticist about really. I can’t bear the thought of bringing another baby into the world not knowing whether they have this horrible gene defect but I have no idea how I would react or what I would do if we got a bad result from the prenatal testing. I would absoultely hate myself though if I just went ahead with the pregnancy without the prenatal testing and then had to watch another of my children go through having cancer and all that comes with it. What will I do?

Gosh you re going through it aren’t you! I think the first thing is to talk to your partner so your both singing from the same hymn sheet and then contact the hospital for discussion on this/bc complications and also with your anti natal clinic for help and advice. Decide on first steps and make a list of all questions. Take it in order of importance and go from there. I think this has to happen all at once and very quickly and you know who to contact for what but nothing is sure until you speak to someone.

I wish you all the very best - there are some pregnant ladies on here and if you connect with the thread they may have lots of advice regarding the BC side of things.

God bless xxxxxxxxx

Hi mumof3,

You’ve come to the right place for support in this. Please do phone the helpline, unfortunately not open again until Monday, but I’m sure they’ll be able to offer you some good support through this. Calls to the helpline are free 0808 800 6000. Lines open Mon-Fri, 9am-5pm and Sat 9am-2pm.

Take care, and a I hope this helps.

Kind regards,
Jo, Facilitator

I wish I had an answer, all I can give is my love. The little one you are carrying is in my prayers, as are you and all of your family.

Feel so helpless. Sorry.


Words fail me. Li Fraumeni syndrome is exceptionally rare worldwide. I understand some, not all, of what you are going through in that my daughter died of cancer aged 4 whilst I was pregnant and 3 months after her death I was dx. Unlike you I have never gone down the road of genetic testing because the ostrich in me doesn’t want to know, I assume my other two children are in the high risk category anyway.

However, I would not want any child or parent to have to go through what my family have gone through.

For me because I have lost a child the thought of a termination horrifies me. I am a bit like you, I would want to have a few more children, but sadly I have been advised by my onc not to.

As I sit here now (in shock to be truthful at your situation) I really do think you need to speak to your onc as soon as you possibly can. You have to take into account your health and the effects this pregnancy could have plus the fact you also have other very young children to look after and your son is having chemotherapy and I know how difficult that world is.

Please PM me if you think I can help at all.

Thinking of all of you. Love xxx

Thanks ladies, there is a part of me that thinks at this point in time a termination may be the best option but I absolutely hate the thought of it. The other thing is that the longer I am pregnant the less I will want to consider a termination but still cannot bare to bring another child into the world to suffer like me and my son have. I’ve been so stupid to get myself into this situation, its annoying. I think they can use CVS testing but still this apparently can’t be done until 10 weeks and then there is likely to be a couple of weeks wait at least for the results which makes the thought of a termination even harder. I’ve been so upset for so many reasons lately but one of them was the thought of not having more children, I have three amazing and beautiful children already and should be thankful for that especially after having cancer and high dose chemo myself at 19/20 but after having my first I always pictured myself with lots of babies. My partner is very definite about not wanting to have another child with the gene defect but he is also aware of how hard a termination would be in the timescales we are looking at. Of course this baby may not have the gene defect so this extra worry may be for nothing but I really feel that the only luck I have, especially right now, is bad luck and it doesn’t even feel possible that there could be a happy outcome from this. :,-(

Hi, just thought I’d post a quick update on this situation. I had decided to continue with the pregnancy and have the CVS prenatal testing done to find out whether this pregnancy is affected by the Li Fraumeni Syndrome and then make a decision then whether or not to continue. Well I’d been referred to a better hospital or at least I thought so. I had my appt with the plastic surgeon and it went well and I was happy with the decisons made, the doc said that as I was pregnant they would want me ‘asleep’ for the shortest time possible so was going to arrange for two teams to work on me at once so it would be done quicker which I thought was great - only thing was the date they gave me is 16th November which feels like a lifetime away and I would much prefer to get it out of the way much before then. If I’d stayed put at the original hospital I would have been having my op this coming tuesday as they have to have ops done within 2 weeks of diagnosis (even though that would be 3 weeks from my first diagnosis).

Then they had a MDM on Friday morning and I get a call from my geneticist that afternoon giving me the rundown - the way the situation now stands is that they will not aneasthetise me until I am at least 12 weeks pregnant(annoying as everything I have read online says op’s are safe at any point in pregnancy) which will put my op back to the end of november, only back about two weeks but the op was going to be far too late for my liking anyway. So I now have the choice of terminate the pregnancy now and get the op at the earlier date, albeit only 2 weeks earlier or don’t terminate but take the risk of waiting even longer for the op and still may end up with no baby coz of the CVS test.

The next bad news is that as I have already had chemo in the past I am apparently about at the limit of a certain type of chemo and you guessed it it just so happens to be the type of chemo that is safe during pregnancy which would mean that should I need chemo I would not be allowed it until after the baby arrived.

I’m just completely confused now about what to do. It seems like a huge sacrifice to terminate the pregnancy now just to get the op a measly 2 weeks earlier but if I carry on and wait till the 12 weeks point for the op I am further risking the chance of my cancer spreading and the need for chemo. If I wait that long and get a good result from the CVS I am then between a rock and a hard place yet again as I would be unable to have chemo whilst pregnant which is a huge worry as I would have been waiting longer for the op so it may be more likely that I would need chemo. the other side is that I wait and get the CVS done so delay the op and then get a bad result from that which would most likely mean I would terminate anyway as I can not bring myself to bring another child into this world knowing it has a faulty gene which will inevitably give it cancer at least once in its life but probaby more so op would be delayed and still no baby, only positive to this would be that if i did happen to need chemo at that point there wouldn’t be the ‘safe chemo in pregnancy’ issue.

My brain is completely fried up. What do I do? I’m thinking about asking whether they would operate now if I was to just have the mastectomy and not have immediate recon as it would be a quicker op and also whether it would make a difference whether I had a mastectomy of just the affected side or the bilateral which is what I was opting for due to the risk factor of the Li Fraumeni. I’m also contemplating asking to be referred back to the original hospital or at least contacting them to find out how soon I could get the op done with them and where they stand in regard to operating while pregnant.

Sorry for the long rant it just sometimes helps to get it all out as you probably well know and thank you and well done if you got to the end of it.

Love San. xxx

Hi, I’ve just sent you a private message…With Love, Belinda…x

Sorry I have no answers but i just wanted to let you know my thaughts are with you and keep your chin up.


Hi there,

I’m sent you a PM as well.

Take care, love