Hello

[Super User]

My son, George, was diagnosed with his first cancer – a rhabdomyosarcoma – on his second birthday. His mother, Gina, had died of ovarian cancer when he was 14 months old, just a week short of her 30th birthday. We were devastated by the news that he had cancer too, and were sure that it was connected somehow with his mother’s disease, but the doctors insisted that it was just plain bad luck – just an awful coincidence and nothing more. George fought his cancer like a trooper and by the age of four had been through two tough years of treatment – including multiple chemotherapy regimens, radiotherapy and surgery. At the end of the process we were told that there was still residual microscopic disease and that there was nothing left to be done. We were sent home to wait for the inevitable end. But it didn’t happen. The microscopic disease never blossomed and we though there were lots of scares along the way the 10-year anniversary of the end of treatment came and went and there was no sign of cancer. This changed around the age of 15, when a routine visit to the GP showed up a dark blotch of skin behind his ear. This turned out to be a type of skin cancer caused basal cell carcinoma. It was surgically removed immediately and we were told that it was probably a long-term side effect of the radiotherapy that he’d had as a child.

A few months later he was suffering from pains in the jaw that turned out to be caused by his third cancer – osteosarcoma of the mandible. This time, finally, he was tested and found to be suffering from an abnormality in the TP53 gene. He was formally diagnosed as suffering from Li Fraumeni Syndrome. As his father I was tested too, and found to have a normal TP53 gene, so the assumption is that it was his mother who passed on the faulty gene, and that it had probably caused cancer at such a young age.

George died on 25th April 2011, his osteosarcoma resistant to everything we could throw at it.

As a family we have started this site to remember George and also to offer help and support to other individuals and families with Li Fraumeni Syndrome or other TP53 disorders.

There are no support groups or charities devoted to the condition in the UK. Sufferers are left with little information and no access to fellow sufferers. As it is such a potentially life threatening condition we want to do more to help, to raise awareness and to do something to address the loneliness and the fear.

So, please join the forum, introduce yourself, as questions and share experiences.

Pan

[pennysophia]

Hi everyone,

My name is Penny and I’m George’s cousin. His dad is my mum’s brother. George died on my birthday and was my sixth close relative to die at the cruel hands of cancer. Unfortunately the paternal side of my family also carries a gene which makes certain relatives more susceptible to the disease, although my siblings and I are not carriers.

George’s death has left me heartbroken but I am very keen to help other people in his honour so please introduce yourselves, I’m eager to hear of other’s experiences of LFS and TP53.

[Author]

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