Saturday, 2 August 2014

Grey's Anatomy and Li Fraumeni Syndrome

I'm a big Grey's Anatomy fan. I have been for years. No programme has the ability to make me cry as much as this one. (Denny?! Mark Sloan?! GEORGE?!?). A good 99% of the episodes are flawless and so very well written. 

Today I became an even bigger fan of the show, and of Shonda Rhimes, the writer and creator of the show. 

Today I finally found the strength to watch an episode which was very close to home for me. I heard rumours that Grey's were featuring Li Fraumeni Syndrome in an episode but I couldn't bring myself to watch it as Georgie had it and it would be upsetting. 

I was blown away by the episode. It was written in a sensitive yet informative way and was so factually correct it left me speechless. It featured a teenager in a very similar position to Georgie and, whilst I found it upsetting and my heart was hurting as memories rushed into my head, I cannot fault the programme for raising awareness in such a brilliant way. 

So from a Li Fraumeni family in the UK, thank you Grey's Anatomy! If you are a fan of the show then it's season 10 episode 14 - "You've got to hide your love away"

If you haven't seen the show before then I insist you go by yourself a boxset this weekend and I dare you to not become obsessed by Monday.

Here is some information on Li Fraumeni Syndrome:

The TP53 Gene:
The TP53 gene acts as a tumour suppressor. It creates the p53 protein which kills cancerous cells. When the TP53 gene fails, the body loses one of its key ways of stopping damaged cells developing into cancer. Some people with cancer find their TP53 gene is damaged within the tumours but is functioning normally throughout the rest of their body. However, some people are born with a damaged TP53 gene. This is usually an inherited problem and it passed down from parent to child. These people have a very very very high risk of developing cancer.

Li Fraumeni Syndrome:
LFS is one of the most serious kinds of inherited TP53 disorders. It is a rare disorder that greatly increases the sufferers risk of developing several kinds of cancer especially children and young adults. The most common cancers associated with LFS are: breast cancer, osteosarcoma (a type of bone cancer) and soft tissue sarcomas.

Diagnosing Li Fraumeni Syndome:
LFS is rare so not much is known about it. Genetic testing and genetic counselling are used to confirm whether or not someone is suffering from LFS. If it is confirmed then this person will need to be regularly screened to check for cancer. The sad fact is, people with LFS are very likely to develop cancer so it is hugely important for them to be screened as cancer is easier to treat the earlier it is diagnosed.
Please look into genetic testing if you meet the following criteria:
An individual with:
·         Adrenocortical cancer at any age
·         Choroid plexus cancer at any age
·         Rhabdomyosarcoma below 5 years
·         Breast cancer below 30 years old (if eligible for BRCA1/2 testing, this should be performed first)
·         Two or more primary cancers of the following: sarcoma, breast, brain, adrenocortical or any childhood cancer; at least one below 46 years old

Two relatives affected with:
·         Sarcoma, breast, brain, adrenocortical or any childhood cancer; one relative below 36 yrs and one relative below 46 years old

Three relatives affected with:
·         Sarcoma below 45 years old and
·         any cancer below 45 years old and
·         any cancer below 45 years old or sarcoma at any age

Georgie and Li Fraumeni Syndrome:
Georgie’s mum died when Georgie was one years old. She was 29 years old and had ovarian cancer. Georgie was then diagnosed with cancer a few months later on his second birthday. At the time it was written off as a horrific coincidence by doctors. It wasn’t until Georgie was diagnosed with cancer for the third time at the age of fifteen that we discovered he had Li Fraumeni Syndrome which had probably been inherited from his mother.

It took a very long time for Georgie to be diagnosed with the osteosarcoma that eventually killed him. At first he was told it was a dental problem. Had we have known he had LFS; he could have been diagnosed much quicker as alarm bells would have been ringing. We will never know if this could have saved his life. We live with the “what if?”

LFS and other TP53 disorders are rare and not much is known about them. There is little awareness about them amongst the general public and even the medical profession. There aren’t any dedicated support groups or charities, no information resources and no registry of the sufferers. There isn’t a community for the sufferers which can make it very isolating, lonely and terrifying for the sufferers and their families.

As I have mentioned before, my uncle has set up the George Pantziarka TP53 Trust to honour Georgie’s memory by providing support to families and individuals, to provide information on TP53 disorders including LFS and to get research funded to look into the condition.The forum on the website which is used to bring together people affected by the condition. Please do take a look and feel free to ask any questions – my uncle is always happy to answer!

For more information on TP53 and Li Fraumeni Syndrome, please visit www.tp53.co.uk

We miss you Georgie xx


2 comments:

  1. Hi Penny! I had a quick question for you and was wondering if you could email me when you have a free moment! Thanks! My email is below. :-)

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    1. Hi Cameron, no problem, send me an email at pennychristophe@gmail.com :)

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