[Karen]

Hi Sonja, you would need to contact the Royal Marsden in London to find out. However from my experience I have found that these studies are usually only for residents of that country, I contacted France ans America earlier this year about their studies and was told I would not be able to participate being a UK resident.

From what you have said in your earlier post it looks like have been able to get all the screening required in Germany as standard which seems very good. In the UK the screening protocol is nowhere near as good, do you know if the screening you had is standard in Germany for Li-Fraumeni sufferers ?

Take Care

Karen xx

[Karen]

Hi Helen

Like you say the stories we all have to tell are virtually unbelievable, it is not until we read the stories of others with the condition that we know we are not alone. I also live in the West Midalnds and I know when I had my results earlier this year at Birmingham genetics clinic I was told he had only come across another couple of people who had tested positive for the condition, it can make you feel very alone. Another genetics counsellor quoted a figure of a 1 in 700000 chance of getting the condition at a recent meeting I attended. Apart from my family I have never met anyone else with the Li-Fraumeni syndrome, although I have had a lot of support re my surgery from ladies with the BRCA gene.

If you ever feel the need to talk or meet up Pan will be able to put you in touch with me. In the meantime I wish you and Archie all the best.

Karen xx

[Karen]

Hi Sandra,

I have an appointment to go to Manchester early September to discuss MRI body scans further so I should be able to let you know more about it after my visit.

Re the Marsden I only know that they are hoping to commence the research programme end of this year or early next and they will contact those interested with the details nearer the time.

My feelings are that the Marsden and Manchester seem the most switched on about the condition so maybe you could ask your genetics clinic or GP to refer you to see a specialist at either one of these places.

Karen xx

[Karen]

Hi there, I have been away on holiday for a couple of weeks enjoying some warm sunshine so have only just picked up your post. You may have read my post on surgery or screening so know that I am in a similar position to you, like you say we are still in the fortunate position of not being ill to date so it is important to keep this in mind and at least feel lucky we can have some control going forward.

I too have made the decision that I will go ahead with surgery, I think the difficult part was finding a surgeon who appreciates the situation I have and who I feel totally confident with not actually deciding to have the surgery itself. Thanks to the helpline I have previously mentioned on the forum I have now found a surgeon who is based in London who will do the operation and I am now awaiting my appointment to come through. The surgeon I have chosen has done over 200 preventative mastectomies with reconstruction and I have had contact with some of the ladies who he operated on and they have all been very pleased with the results. Initially I was directed to my local hospital but made the decision that I would be willing to travel in order to get the surgeon I wanted. This process took a few months for me to sort but now I am a lot happier in my own mind now everything is underway. My doctor was not initially keen on me going out of the area but did agree to support me on the decision I came to. I met my surgeon by paying for a private consultation first but after finding out the costs involved and the fact that once you get your appointment on the Nhs there would only be a couple of months waiting I decided to stay with the Nhs, after all the surgeon and the hospital I am happy with both. Also I do have private insurance through work but they will not cover the operation because it is preventative only dispite the future risk being extremely high.

Like you mentioned there is very little help available and I have felt let down by some of the people I thought would have been the most knowledgeable about the condition in the medical profession. If I had accepted the answers I was given in the first place and not continued to push for more and had not have contacted the Hereditary Breast Cancer helpline which has been brilliant helping me out in various ways and enabling me to get to the people I needed to be in touch with to get things moving, then I would not be in the positive frame of mind I am now in , and feeling I am now happy to face the future knowing Ihave done everything in my control.

It is also great that Pan has set up this forum so we can all keep in touch with our progress going forward.

Good Luck and keep in touch

Karen xxx

[Karen]

Hi Pan

Yes I think the leaflet is clear and well explained, I agree that medical verification would be useful and maybe a point of contact eg local genetics clinic or Royal Marsden could be mentioned if they wish to obtain further information relating to the condition. I look forward to seeing the finished item.

Karen

[Karen]

Hi Sonja

Thank you for your comments, sorry for so long to reply back but I have been away on holiday.

I found it very useful to read your history and the fact that you are positive about the breast surgery. It really does help for me to hear from other women who have been through the procedure and how they found it.

I have contacted my genetics clinic re chemoprevention however the response does not seem very positive compared to surgery. The risk reduction is only around 50% and there are quite a few possible side effects including stroke, blood clots and increased risk of other cancers. I will keep you updated on the route I decide to take.

Wishing you all the best for the future.

Karen

[Karen]

Hi Pan

No, it was not discussed, it is a good point which I will look into further.

Thanks

Karen

[Karen]

Hello Sue,

I also have only recently been diagnosed with LFS and to date have been lucky enough to remain cancer free.However I was shocked by the lack of screening offered currently. The only real screening currently available is for breast cancer. I feel that if you have made the choice to find out if you carry the gene then you should also be able to make the choice to under go screening as well. The experts are quick to point out that there is no proven benefit to other types of screening and there is large scope for false positives, however I feel it is up to the individual to make that choice. Going forward there does appear to be a research study to evaluate whole-body MRI about to be set up in the UK , this is similar to studies which are currently taking place in France and the US.
The other difficult decision for women to make is should they have surgery or carry forward with screening. The experts again seem quite pro bilateral mastectomies , and this is currently something I am considering especially being mid forties and having a high rate of breast cancer in my family. Have your husbands cousins ever thought about this option? To date I have received some good support from the breast team at my local hospital and have had several discussions with them regarding the operation. I am now going to take a couple of months to make up my mind on which way to go.
Lastly I think it is vital that GPs / medical staff are made aware of this condtion. When I went to see my GP after being diagnosed she had to do research to find out what the condition was and re book me in again after she had done her research. I think there is a long way to go and importantly there needs to be more awareness of LFS to the medical profession.

I wish your husband all the best with his surgery and importantly we all need to stick together going forward to get the best possible treatment and screening for our families.

Karen

[Karen]

Hello Thierry and welcome to the forum.

It is good to hear from you and how you are treated with the condition in France please keep us informed with your progress. I think that there may be a research programme with full body MRI scans taking place at the moment in France as I e-mailed a contact a couple of months ago, perhaps this is what you are currently discussing with your doctor.
At present we are not given full body MRI in the UK unless you pay for it yourself which I am currently looking into.

I will be updating my page recently diagnosed with LFS again next week so hopefully will have some more information to add.

Take Care

Karen

[Karen]

Hi Verity

Thank You for joining the forum and taking time to respond to my post. It is good to be able to share experiences with people in a similar position.

I was interested to see what you have managed to achieve on the screening side and will definetely be pushing for as much screening as possible on the NHS. I still find it hard to believe that we have still have to fight so hard to be able to get a more comprehensive screening plan.

I am fortunate that I do not have any children to worry about it must be extremely stressful having to make the best decisions for them. I am a bit worried though about an older cousin we have lost touch with because he had a daughter who may well now have children of her own and I feel I should try to track him down so he is aware of the condition and can make his own decisions for his family. He lost his mom and brother to cancer quite a while ago before the connection between TP53 and cancer had been identified.

One of my main concerns is on the sarcoma front, as with your brother and mine there does not seem to be any symptoms until the cancer is well advanced. I am still trying to find out about the rapid MRI full body scan which they have tested in Canada and America and what the availabity and cost is to have them done in the UK. The genetics clinic have told me that there is no proven screening for sarcoma.

I hope everything continues well for your son.

Take Care

Karen x

[Karen]

Hi

I just wanted to update you with the appointments and information I have gained during the last month.

My first appointment with my doctor was fairly predictable as she had never come across the condition before. However she was helpful and asked me to give her a couple of weeks so she could do her research and speak to various people about the condition. When I returned she confirmed she had spoken to my Genetics Counsellor and the Royal Marsden. Going forward we agreed that it was important that I would only see a couple of doctors who were aware of my condition and I would be able to get a quick appointment with them if required. She also agreed to arrange some counselling for me.
I do think that there needs to be more awareness of Li-Fraumeni for GPs .

My next stop was to see my genetics councellor in Birmingham and I was able to get a fairly quick appointment. He thought the best move would be to refer me down to the Royal Marsden in London as they would be better equipped to deal with my questions, so I am now awaiting an appointment. He did spend a lot of time covering areas about Li-Fraumeni and the various cancers and possible symptoms. He also talked about the different deletions in the P53 genes and my family history. He made a referral for me to see the Breast Surgery clinic at the local hospital so I can discuss surgery options and I have just received that appointment for next Friday. Screening was another main topic but currently there is only breast screening available in the UK. I still feel strongly about screening even if I have to pay for it myself so he said he would find out about the possibilities of paying for using the NHS facilities to see if it would be more competitive than private companies doing screening.

I would also like to thank Pan for all his assistance and helping to get answers to my questions.

If you do have Li-Fraumeni /TP53 disorders please share your experiences, the more we know the more we can learn. I look forward to hearing from some other families and how they are dealing with the condition, their views on screening and preventitive surgery. Also people who have developed cancers and those who have fought them off. My brother starts his second session of chemo tomorrow for his soft tissue sarcoma and I wish him all the best.

Karen x

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