Hiya

[sandra_may]

Hi there, 

I’ve just found this site and thought I would introduce myself. I’m Sandra, I’m 32 years old and found out in 2009 that I have Li Fraumeni Syndrome. I have 4 children , 3 of whom also have LFS. 

I was first diagnosed with cancer in 1999. I had Stage 4 Osteosarcoma in my right knee and secondaries in my lungs. I had chemotherapy, an above knee amputation and an operation to remove the secondaries in my right lung.  

I had my first child, a boy,  in 2005, second (girl) in 2006 and third(girl) in 2009. My fourth child (girl again) is 10 weeks old. 

Shortly after the birth of my 2nd daughter I noticed a small lump on my son’s temple. He was almost 4 years old. To cut a long story short he was diagnosed with Rhabdomyosarcoma. Even though we were at the GP within days of finding it and referred to Oncology within about two weeks by the time treatment started his tumour was bigger than a golf ball. It didn’t shrink as much as they hoped before his surgery. They removed the tumour, surrounding muscle and skin from his temple which they then rebuilt using muscle from his back and skin graft from his thigh. 

Whilst he was undergoing treatment we were introduced to a genetics doc who tested both myself and my son for LFS. Obviously we both tested positive. The doc was going to arrange a breast MRI for me but that took ages and I found a lump before it had happened. I had breast cancer with lymph node involvement. 

My son started his last chemo on 2nd December 09, I started my first on 19th December 09 following a left mastectomy and axilliary clearance. I had chemo and Herceptin for a year.  During this time I pushed to get my two daughters tested for LFS. We were told that they wouldn’t normally test children but my argument was if I didn’t know whether they had it or not I was always going to worry regardless but if testing showed they didn’t have it I could relax a little. Both girls were tested at different times and both times we got the devastating news they had LFS too. 

In July 2011 I finally got an appointment (after asking for a referral in January!!)  to see the Plastics Team regarding right mastectomy and double reconstruction. The specialist nurse realised they had missed my annual MRI in 2010!! They got me an MRI within a week which showed a large area of concern in my right breast. An ultrasound appeared normal but biopsy show high grade DCIS. Cue 2nd mastectomy as soon as possible. At this point I was no longer prepared to wait for the plastics team to fit me in in the November even though they were happy for me to wait that long.  It turned out the DCIS was 5 inches in size!!! Thankfully it was only DCIS with no invasive cells. 

So far my son is still cancer free and my two affected daughters are fit and well, as am I at the moment. 

I am now also pushing for us to follow the USA/Canadian Surveillance Protocol. At the moment the children get a quarterly abdominal ultrasounds but that is just not enough!! I was surprised to be told that now that I have no breasts I will not get an annual breast MRI, obviously I realise there are no breast to look at but lots that I have read says that you can have breast tissue all around that area so I was still expecting to have these done. I think I’ll be asking again about it. 

We don’t have any history prior to my osteosarcoma, it is thought that I inherited the LFS from my biological father who I have never known and know nothing at all about. But given the short history we do have I feel its imperative that the least my children should get in the way of screening should be an annual/6 monthly full body MRI.

We are up in the North East and our genetics doctor is based in the Centre for Life in Newcastle. She hadn’t actually heard of the linked article in the Lancet or Toronto protocol  but is going to read it now I’ve pointed her in the right direction. Scary stuff when you seem to know more or be more on the ball than the people ‘in the know’!!! She has contacted people in Manchester and the Marsden regarding my request but it doesn’t sound too promising in terms of getting further surveillance so it looks like the fight is on!!!

We asked right back at the start when we received the LFS diagnosis for annual full body and brain MRIs, urinalysis, blood works and abdo ultrasounds without doing much research. Those things just seemed common sense to us. As mentioned they agreed to the abdo ultrasounds but said there was no evidence to show that the things we were asking for would improve our chances so I was so happy to find out about this study and to be honest shocked how closely the tests matched with those we had requested. I knew we were right all along and am now feeling very annoyed with myself for not pushing harder for more right from the start but believe me I will be doing so now!!!!

[Despina]

Hi Sandra May,

Welcome to the forum. My name is Despina and I’m Georgie’s sister. He also had Rhabdo when he was two years old. He went on to have Chemo and Radiotherapy. Did your son have radiotherapy as well?

I know exactly where you are coming from when it comes to speaking with ‘people in the know,’ we found the same thing over the years. I’m glad that you have found this site now and I’m sure you will find great support on here.

Please keep in touch and let us know if anything else develops.

Despina

[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.

[pennysophia]

Hi Sandra,

So so sorry to hear of everything you have been through. I’m very glad to hear that your son is doing well and your girls are fit and healthy – long may this continue.

My paternal uncle (Georgie was my maternal cousin) also has a gene mutation but he is over 50 years old and has not had any major health concerns to date (I’m touching wood whilst typing this) I genuinely hope this is the case for your children too.

I have complete faith in my uncle Pan and the work he plans to do with the trust so stick with the forum and I’m sure real changes will be made on the screening front one day in the future.

take care x

[Author]

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