Home Forums Introductions Hello from West Midlands, BCH

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  • #272
    Helen H
    Participant

    Hi, my name is Helen, I always feel that I can’t tell my story as no one would believe me but reading what other members have put makes me feel not so alone in this.

    When I was 8 my Mother passed away from breast cancer that she had fought for about 5 years. During that time my brother was diagnosed and treated for non hodgkins lymphoma at the age of 3.

    My brother recovered well but at 18 (1994) was diagnosed with an osteosarcoma of his shoulder, they said at the time that this may have been caused by his previous treatment even though a diagnosis of LFS hadn’t been made.

    He had to have his scapula removed and intensive chemo but unfortunately he passed away in 1996 at the age of 20. This was hard, I did have questions as to why two close members of my family had died so young from cancer but we had been told the cancers weren’t connected.

    Then when I was 31 (2006) I found a lump in my left breast, mastectomy, chemo, radio and herceptin followed and I pushed to have a right mastectomy with reconstruction which I had in 2009. I have to add my husband has been amazing through all of this.

    I had had a BRACa test which was negative. They asked me if I wanted testing for the p53 gene mutation due to my family history and once I learned about what it meant I kind of knew what the result would be. Then when I got the result I didn’t really want to take in what it meant for me, although I’m glad it explained my family history. It was frustrating that there didn’t seem to be any clear guidelines about screening and when there are even the geneticists seem to disagree on what clinically should be done.
    On my first consultation the geneticist was very good but said at the end if I found any new information to by all means let them know!

    I will definitely be printing the PDF of the Canadian protocol to add to my folder of info and take to my appointments.

    Luckily I have a very good oncologist who has finally started me having annual MRI’s of axilla and abdomen. They are reluctant to do the whole body as it can throw up things that may not be a problem.

    In 2010 I fell pregnant! I didn’t think I could but we were ecstatic. Of course I worried that my child might have LFS too but it couldn’t happen again, could it and we were so happy. Archie was born February 2011 a healthy little boy.

    I enquired quite soon after Archie was born about having him tested, we saw the geneticist again and they were great giving us information, we decided to wait until after he was 1 and hoped beyond hope that the 50/50 chance that he had LFS would be in his favour.

    But at 10 months he was diagnosed with bilateral wilms tumours. It broke my heart seeing my baby having, first a central line then everything else that he is now going through. When they operated to remove his left kidney and tumour they found that tumour to be a neuroblastoma so Archie actually has 2 different tumours one on each kidney, which the surgeons and oncologists have never seen.

    I also had a leiomyosarcoma removed from my shoulder last year. That now requires 3 monthly x rays of my chest which concerns me but they say it’s the best way to check for changes.

    So here I sit in isolation with my little man while he recovers from high dose chemo and stem cell rescue with all these questions going round my head. One main feeling is that I’ve given this to Archie but I wouldn’t be without him.

    Helen

    #275
    sandra_may
    Participant

    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

    #277
    Despina
    Participant

    Hi Helen,

    Welcome! I’m George’s sister. I know exactly how you feel about your life story. When I tell people about my family they just gape at me with open mouths, not knowing what to say. You really couldn’t make this stuff up.

    My brother had his first cancer as a two year old baby and I remember spending so much time with him in hospital as he recovered from his treatments too. I can only imagine what it must be like for you as a mother having to go through this.

    But please take heart that on this site you will find many who feel as you do and have experienced very similar things. We will all support you.

    Despina

    #280
    Karen
    Participant

    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

    #281
    pennysophia
    Participant

    Hi Helen,

    I’m so so sorry to hear of everything you have been through – hopefully this site and the wonderful people here will be able to show you that you are not alone in your experiences.

    I really wish you and Archie all the very best and look forward to getting to know you a little better through the forum.

    Penny x

    #287
    Pan
    Keymaster

    Being a parent having to watch your child go through cancer is a nightmare, Helen, but there are lots of us here who have gone through this and know what you’re going through too. We’re all thinking of you.

    Pan

    #302
    ELLY
    Participant

    hi my name is elly sorry to hear about you and your son i have li fraumani syndrome i found out in 2006 after getting breast cancer at 24 after having my son i had both breasts removed and reconstrution in 2011 i had a spindal cellcarcoma in my left shoulder that was removed my grandmother passed away of breast cancer at aged 37 my father passed away of lung cancer at aged 37 my sister got a rhabdomyosarcoma at the age of 7 had the lump removed in her arm but it just came back so had her arm removed and chemo and radiotherapy then when she was 19 years old she got leukaemia she had chemo but saddly passed away then my brother got a brain tumour in 2010 and passed away before treatment and me and my partner have just found out our son has got li fraumani sydrome i have another sister who is 32 she does not hve the gene its nice to know iam not alone when

    #308
    ELLY
    Participant

    hi helen, I had breast cancer in 2006 aged 24 after having my son. I suffer with LFS . I had both breasts removed and reconstruction, then in 2011 I had a spindle cell sarcoma on my left shoulder. I then had it removed. My grandmother died of breast cancer aged 37, my dad died of lung cancer aged 37, my sister had a Rhabdomysarcoma in her arm when she was about 7, then she had to have it amputated when she was about 9, but then she got blood cancer after having chemotherapy and radiotherapy. She had a bone marrow transplant from my brother, but her lungs went into shock and she sadley passed away aged 19. My brother died of a brain tumour aged 24 in 2010, it all happened so fast. I recently found out my 6 year old son has inherited the LSF. It seems as though we are in a nightmare that won’t end. Sorry to hear your story I wish everything works out for your family big hugs xx

    #331
    Helen H
    Participant

    Hi everyone, thank you for your replies and support. I can’t believe what you’ve all had to go through, you’re all so strong.
    The update on Archie is that he finished his high dose chemo with stem cell rescue during that time he had an episode because of all the drugs so they did a routine head scan. This showed a brain tumour which he had removed about 7 weeks ago now. We had to wait a few weeks for the results but it was a choroid plexus tumour, another primary tumour but it had been treated by the chemo he’d already had. He bounced back from the op remarkably and now we’re on a bit of a break from treatment before his next op.

    I wanted to add a bit about what screening I’m having. My main oncologist has started sending me for an annual axillary and thoracic MRI due to the radiotherapy. I also have a 3 monthly chest x ray for the leiomyosarcoma, they say x ray is best for showing up abnormalities in the lung which is where this sort of sarcoma can travel to. My oncologist also referred me to a gyno oncologist to monitor my fibroids and they are now recommending a hysterectomy because of the small chance that they can become cancerous. I’m glad they are being vigilant and I will go down that route once Archie is ok.

    The other update is that they are going to now look at Archie’s DNA as he’s had 3 primaries diagnosed in such a short time and that they don’t think that they are tumours that you would necessarily associate with LFS? I wondered if anyone else had come across this?

    Helen

    #332
    Pan
    Keymaster

    Hi Helen,

    I’m a bit confused – choroid plexus tumours are known for being associated with Li Fraumeni Syndrome, so why are they saying that his tumours aren’t necessarily lined to LFS? In any case, three primaries looks like pretty strong evidence of LFS to me.

    Anyway, glad to hear that he’s bounced back from surgery like that.

    #333
    Helen H
    Participant

    Thank you that is worth knowing. They didn’t seem to know that. They think he may have fragile DNA as well as LFS. So I’ll wait and see what they find out. Sorry, I don’t explain myself very well, there’s such a lot to take in at the moment.

    Thanks again,

    Helen.

    #335
    Pan
    Keymaster

    HI Helen,

    Have they tested Archie for TP53 now?

    #336
    Helen H
    Participant

    Hi Pan,

    Not yet. We’ve just found out from Archie’s latest scan that the Wilms tumour on his remaining kidney has grown very rapidly. It looks like the only treatment will be to have it removed as he can’t have any more chemo.
    We’ll see what they say in the new year and ask about the gene testing then also.

    Helen

    #337
    Pan
    Keymaster

    That sounds like tough news to take, especially over Christmas. Hope you’re all OK. On the plus side, surgical removal of a tumour is always a good option if it’s possible.

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