Recently diagnosed with Li-Fraumeni Syndrome

[Karen]

Hi my name is Karen and I live in the West Midlands, UK. I am 46 years old and to date have been lucky enough to be cancer free, however last week my blood test result came back showing I had a mutation in my TP53 gene.
I took the test because my brother was diagnosed with the condition just before Christmas, he is 43 and unfortunately has a high grade soft tissue sarcoma and tumors on his liver, his condition was only picked up when he was taken into hospital the start of last year with fluid on the brain and he was given a body scan prior to being released. The cancer was advanced without him getting any real symptons.
We are the first members of our family to be tested for Li-Fraumeni, but our family has always had a high rate of breast cancer in the women, my 3 aunts and grandmother all died at young ages , a bone sarcoma killed my cousin at 19, and my dad died of prostate cancer.
I know there are worse stories than ours, it has been really upsetting to read about the number of children with this condition.
I will be visiting my doctor tomorrow to start the process of finding out what is available in the way of screening in the UK. I can already see from the information I have read there is no standard policy in place, but I will be pushing for as much as possible. I have been having breast screening from my late 30s due to my family history even though they had not identified the gene at that stage.
If anybody else gets regular screening in the UK I would be interested to hear what you have and also if you get regular blood tests, and also which specialist you see. The more information we gain the better. I will keep you updated with my progress as we go along.

Karen x

[PanP]

Hi Karen,

Thanks for sharing that with us. Getting the LFS diagnosis is scary, but at least now you know what was behind all the cancers in your family. In terms of screening protocols, there are no standard ones in the UK as far as I know. The main thing for now is to make sure that you get priority when any odd symptoms crop up. This is what the Institute of Cancer Research recommend.

The good news though is that in Canada and the United States they’ve just trialled a new and more active protocol for LFS and it’s had some really positive results. I’m working on an article about it at the moment, which I hope to publish on this site soon. In the meantime I’ll email you a paper that you can take to your doctor.

And please do keep us updated.

[pennysophia]

Hi Karen,

I’m sorry to read about your diagnosis and I’m really sorry to read about what’s happened to your loved ones.

I hope your doctor gives you as much information as possible but hopefully you’ll get lots of information here too.

Keep us updated
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

[Clive Major]

Thanks, Karen. One of our plans is to produce some kind of information pack that can be given out to the newly diagnosed. Any advice you can give us on what to put in would help that along…

[Verity]

Hi Karen

I am new to this group, although I have known I have had the LF gene for over 4 yrs now. I too have had not cancers so far. I am 39. However like you, my brother was diagnosed with a soft tissue sarcoma in his eosphagus which unfortunately killed him within 6 weeks.

I am also seen by the genetics team at the Royal Marsden – Prof Ros Eeles. They have been extremely helpful to me over the years.

In terms of screening, I recieve MRI breast scans on the NHS once a year (please DO NOT have MAMOGRAMS – they are very dangerous for LF sufferers). I also receive annual skin assessment, 2/3 yrly colonoscopies, annual bronchoscopy, and 2/3 yrly endoscopy. IT is ALL done on the NHS.

Saying all that, I am very aware that the best form of monitoring is that as individuals we remain very aware of any changes in our bodies and have a VERY LOW TOLERANCE to visiting the doctor. I have a fantastic GP who is very good at referring me to specialists.

I hope this can be of some help to you. I too have been considering the option of mastectomy, which again the NHS would perform and provide restructuring too…. however that feels an enormous step to take, so for me the jury is still out on that one.

[Despina]

Hi Verity,

Welcome to the group. Thankyou for sharing your experiences, please do update us on any decisions you make.

We wish you all the best.

Despina

[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

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