Blog Post 200: International Rare Disease Day 2013

Today is International Rare Disease day. I am going to use this day to raise more awareness for  rare conditions that have affected people I know and care about. Some of this information will have been covered in this blog before but it’s always good to go over things and refresh memories as well as raising awareness for newer followers of this blog!

On a personal note, this is my 200th post on this blog!!! Thank you so much to everyone who reads it and to everyone that provides me with encouragement, support and great post ideas. I would also like to use this post to publicly thank David Collins for his unwavering support and guidance. David is a very humble man but he is someone I admire greatly and look up to. Thank you David x

George Pantziarka and Li Fraumeni Syndrome

Of course I have to mention my beautiful Georgie. He was a Li Fraumeni sufferer and I want to raise awareness of this condition in the hope that it saves others from a similar fate.

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

Dawn Green and Pesudomyxoma Peritonei

I have mentioned my beautiful fellow CRUK Ambassador and friend Dawn Green on this blog before. She is literally Wonderwoman and I am in awe of her.

In 2008 Dawn was diagnosed with Pseudomyxoma Peritonei. 

Pseudomyxoma Peritonei is a very rare type of cancer that usually begins in your appendix as a small growth, called a polyp. Or, more rarely, it can start in other parts of the bowel, the ovary or bladder. This polyp eventually spreads through the wall of your appendix and spreads cancerous cells to the lining of the abdominal cavity (the peritoneum). These cancerous cells produce mucus, which collects in the abdomen as a jelly like fluid called mucin.

Dawn was given just three months to live and the cancer was so rare that her doctors didn’t know much about it at all. Whilst fighting the disease Dawn noticed a distinct lack of emotional support for people fighting this form of cancer. 

Dawn decided to set up a charity to help others in her situation. Pseudomyxoma Survivor aims to provide emotional support for anyone dealing with this type of cancer and to prevent anyone feeling alone or isolated during their fight against the disease.

The charity fundraises and raises the profile of PMP whilst also funding research into the disease. Dawn is an incredible patient advocate for all survivors, and this results in increased awareness and higher survival rates worldwide.

If you would like to know more about this type of Cancer or Dawn’s charity then please check out her website, I will post the link below. If you are interested in getting involved then I’m sure she’d be happy to hear from you!

A cancer diagnosis is terrifying, especially when it’s a very rare cancer such as this one. More needs to be done to understand these rarer types of the disease so cure’s can be found and people can be saved. Dawn recently found out that her cancer has returned but thankfully it is slow growing. I wish her so much luck and I am sending so many positive thoughts and lots of love her way. I think Dawn is incredible and the World needs people like her. She is a tough cookie and she won’t let cancer beat her. We’re all with you every step of the way beautiful Dawn.

http://www.pseudomyxomasurvivor.co.uk/

xxx

My Beautiful Cousin Georgie xx