[sandra_may]

From what the copy of the correspondence says they are looking into whether I can have screening but I can’t help feeling pessimistic. My own genetics team at Newcastle have refused any screening which is why I asked to be referred to Manchester.

My two previous cancers (2009&2011) were both breast and I had a mastectomy each time so not sure where I would stand with the Tamoxifen. I will drop the docs a line and see what they say about it.

[sandra_may]

I’m so upset about this trial. I have had cancer twice within the last five years (2009 & 2011) so do not fit the criteria. I only found this out today when I received a copy of a letter from Prof Evans in Manchester to my genetics team up in Newcastle. I spent a good few hours crying after I read the letter. I was feeling so relieved that I would have the chance of the regular screening by being a part of this trial as I currently receive no screening whatsoever and I have to say that I am going through a bit of a bad patch at the moment and struggling to cope with having this gene fault. I’m not ill at the moment but I am constantly worried that I am with every ache or pain recently.

I’m still waiting for an appointment from Prof Evans for a clinical full body MRI after seeing him back in November. I’ve been chasing it up and apparently I’m still in the system but thats as much as they can tell me.

I am struggling to understand how they can exclude people for having had a cancer within the last five years. Surely that’s making an unnecessary reduction to an already limited number of possible candidates especially when the terrible nature of the gene fault is that it leaves us all so susceptible to cancer. If anybody could explain this I would greatly appreciate it although I doubt I will ever agree that there is a good reason to exclude me and others like me from this trial.

[sandra_may]

Hi guys,

A quick update from me. I had my appointment with Professor Gareth Evans at Manchester earlier this week to discuss surveillance options. The appointment went well and I am now awaiting an appointment for a baseline Full Body MRI. Following this I will then sign up on to SIGNIFY. So for me this is fantastic as I am currently not getting any screening whatsoever.

Unfortunately there was nothing more that he was able to offer for my children. He thinks the quarterly abdominal ultrasounds are a good idea so we will continue on with those.

He did say that no lump/pain should be ignored and MRI is the way to go which is great for my sanity. My oldest daughter (6) has a little lump on her collarbone, not sure if I have mentioned it on here before, anyway I first noticed it in August and we were seen pretty quickly by our Paed Oncologist. She said she didn’t know what it was but was sure it was nothing but if it grew significantly then she would see us again. So in October I was still concerned about this lump which although not necessarily any bigger I thought was changing. We went back to the Oncologist to request an MRI. The oncologist was [b]very[/b] reluctant to agree to this and tried a number of times to talk us out of it for different reasons. To be honest I came away feeling like she thought I was being neurotic and unreasonable even though I am just looking for some kind of concrete answer. I can’t help it if somebody, however experienced, ‘thinking’ a lump is not something bad is just not enough to put my mind at rest. Professor Evans kindly looked at the lump and said he didn’t think it was anything serious but that it needed an MRI. Thank god!!!! I’m not so neurotic and unreasonable after all. As Professor Evans said the best prognosis comes from early detection and cutting the tumour away before it has a chance to spread – this to me, and I’m sure everyone else on this forum, is just common sense which makes it more annoying that we have had to push to get this MRI. I spoke to our geneticist today about my appointment and she was really happy when I told her this as she said she can now use this in helping us to get the right screening at the right time in future. I’m very happy about this. 🙂

Something else Professor Evans said that I found interesting was that as well as radiotherapy being very dangerous for us in terms of future cancers there is evidence to show that it doesn’t even work very well in people with TP53 problems. I am SSSOOOOO pleased that we decided against it for my son now as not only would it have massively increased his future risk but it might not have even helped in the short term either!! Nobody else had mentioned this to us so I am happy to have found out about this.

Another thing of interest that he told us was that once a child gets past the age of 4 (ish) the risk of developing a tumour decreases quite a bit although it then starts to climb again in mid-late teens. This gives me some hope for us as my children are now 7, 6 and 3.5. Obviously the worry will never go away and will always be hovering close by.

it looks like my quick update may have turned into a mini essay, oops, 🙂

Anyway, I’ll update again when I or my daughter get our awaited MRI’s. xx

[sandra_may]

Oh, I didn’t see it. Did anyone in the family know they had Li Fraumeni or were they all about to be tested?

I’m glad that it got a mention though, the more people that hear about it the better. Most doctors don’t even know about it. It’s annoying how many times I’ve had to explain what it is, what it means, how to spell it, gggrrrrr!!

I wonder if I can watch that part anywhere? I wonder whether it is available online anywhere, if it is and there’s a chance to comment we should link to this site.

[sandra_may]

Hi Elly, I hope you are well. I’m so sorry to hear about your losses and that you and your little boy have LFS. I know how hard it is having children with LFS, 3 of my children have it, so far only one of them has been poorly but he has been off treatment for almost three years now which is great. It is good to hear that you are both getting some kind of screening and fantastic that you are getting full body MRI’s, I’m trying at the moment to get more screening arranged for me and my children. I’m glad that you’ve found this forum as like you said its good to know you are not alone in this. Xx

[sandra_may]

Karen, just wanted to say Good Luck for your surgery, wishing you a speedy recovery. Xx

[sandra_may]

Just a quick update from me regarding screening. I contacted my geneticist to request more screening, in particular MRI’s, but was again told that they could not offer any more than we were getting which is not a lot. So I asked to be referred to Manchester where I now have an appointment in a couple of weeks. Fingers crossed we will get something more from them. X

[sandra_may]

I was reading something a while ago, not sure whether it was on this site or the anticancer site but it was about the way that certain chemotherapy drugs work and how some kind of use tp53 to help the process. I won’t even pretend to understand it properly but I did find it interesting that there might be some chemotherapy drugs which may not work or not work as well without the fully functioning tp53 so therefore some treatments might be ‘better’ for Li Fraumeni patients than others. As I say this was way too technical for my little brain but maybe more research into this type of thing or even a list of some kind which indicates which drugs might be ‘preferred’ for Li Fraumeni patients, it could even go as far as to suggest alternatives? I know a lot of cancers will have a treatment protocol specific to them but could these be tailored for those with Li Fraumeni?

The thing that has got me thinking about this is that my son had Rhabdomyosarcoma, he has been off treatment for almost three years now but I am now wondering whether his treatment was the best it could have been. The protocol that was used to treat him included Radiotherapy at the end. It was decided not to have this because of the associated risks but this has meant that he has in fact had less/worse treatment than someone else with the same tumour but without LFS. We had never heard about proton therapy (which again I first heard about on this site) and it was never offered or discussed as an alternative to the radiotherapy which is something else that I am now struggling to deal with. As there was a full clearance during the operation to remove the tumour we thought, at the time, we were doing the best thing for his long term health by not having the radiotherapy but I now feel I have let him down by not knowing about or pushing for the proton therapy instead. Had we been offered or told about it I would have jumped at the chance to have it, effectively completing the treatment protocol but it now feels ‘unfinished’ if you know what I mean, it is obviously part of the protocol for a reason.

Hope some of that made sense!!

I definitely think a LFS registry is a good idea. As I am not under either Manchester or the Royal Marsden I wonder whether I would ever have found out about the SIGNIFY study had I not found this website. My geneticist had not seen the Canada/USA study until I asked her about it and it was through my questions about this that she found out about SIGNIFY. What if I had never asked??

[sandra_may]

That’s brilliant. My geneticist is going to be getting the details for us. We are up in the North East so not really near Manchester or the Marsden. Hopefully we can participate from here, with so few people to choose from to take part I don’t see how they can say no. But in saying that I am quite willing to go to Manchester (about 2 hours drive) if that’s what it takes to get the screening.

[sandra_may]

Hi Despina,

My son didn’t have radiotherapy. When they operated they got clear margins on all sides, albeit quite close on one side. Because of this, the fact the rhabdo hadn’t spread, the fact his tumour was on his temple so very visible and obviously because of the LFS we decided not to risk it. I think the oncologist would have agreed to it had we wanted to but we really didn’t.

Sandra.

[sandra_may]

Hi Helen,

I’m new to this site too. And I know exactly how you feel, I always say that the things we have been through you couldn’t make it up!!

I’m so sorry to hear of your losses and both your ilnesses and that of your little man. I completely understand how you feel about having given him LFS as I have passed it on to 3 of my children before I even knew I had it and it is soul destroying.

Sending big hugs and kisses to you and Archie and fingers crossed he responds well to treatment and makes a full and speedy recovery.

Sandra.
Xxxx

[sandra_may]

Hi Karen, I’ve only just found this site but I’m so glad I have. It’s good to hear you have decided on your surgery. I really hope it goes well for you.

I have also heard about the study in the last few days and believe it is called SIGNIFY. My genetics doc is going to get me the details as soon as possible and register our interest. Do you have any more info at the moment?

Also can you please clarify what you mean where you say “and Manchester have commenced a screening programme”? If there is a screening programme underway there I would be very interested in the details as when I recently requested that we undertake the Toronto Protocol my genetics doc contacted Manchester and was told that they do not offer intensive routine screening. I’m wondering whether this is the response from just one doctor there maybe?

Sandra
Xx

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