Hello from West Midlands, BCH

[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

[Despina]

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

[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

[pennysophia]

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

[PanP]

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

[ELLY]

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

[ELLY]

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

[Helen H]

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

[PanP]

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.

[Helen H]

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.

[PanP]

HI Helen,

Have they tested Archie for TP53 now?

[Helen H]

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

[PanP]

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.

[Author]

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