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

CLIC Sargent - The Great Mum's Get Together

Happy Wednesday one and all!

One of the charities I support wholeheartedly is CLIC Sargent. They helped Georgie so much when he was ill and since his death I have found support with them too. They kindly set up an Especially for You Fund in Georgie’s name so his memory can help other children and young people suffering from cancer. They are also very supportive of my fundraising and campaigning efforts as well as this blog. They are a a fantastic charity who do incredible things for young cancer sufferers and their families.

March is the month of Mother’s Day. A time when mum’s get to be centre stage and we take time to appreciate what they do for us. CLIC Sargent have a mum based even taking place in March and I wanted to highlight it here and encourage everyone to take part if they can!

This March see’s CLIC Sargent’s flagship event for mums takes place. The Great Mums Get Together asks mums across the UK to get together and have a cuppa for children and young people with cancer.

So whether you feel like hosting an indulgent afternoon tea, a pamper night or simply turning your usual coffee morning into a fundraiser, it all makes a difference. You can sign up to take part at www.clicsargent.org.uk/gettogether or for inspiration and ideas join the Great Mums Get Together Facebook page http://www.facebook.com/pages/Great-Mums-Get-Together/133197136737766.

To read more about CLIC Sargent please click http://pennysophia.blogspot.co.uk/2012/09/clic-sargent.html

To read more about the George Pantziarka CLIC Sargent Especially for You Fund please click here http://pennysophia.blogspot.co.uk/2012/10/the-george-pantziarka-especially-for.html

If anyone would like to host a Great Mums Get Together and raise money for the George Pantziarka Especially for You Fund to directly benefit CLIC Sargent, please  let me know!

CLIC Sargent is a hugely worthwhile charity to support and I know from personal experience that their fantastic work helps thousands of families through one of the hardest situations. No child should have to face cancer but I’m very glad a charity like CLIC Sargent exists to help those that do sadly have to fight this horrific disease.

xxx

Smokefree Action Day

Happy Valentines Day one and all!

So it’s been six months since the consultation into introducing plain, standardised cigarette packets closed. The hard work is still continuing though and I wanted to use today’s Smokefree Action Day to remind you all of the key messages of our potentially historic campaign.

The whole point of this campaign is to persuade the government to introduced standardised packaging for cigarettes to stop the packets being used to entice children and young people into taking up smoking. IT IS NOT AIMED AT CURRENT SMOKERS AND MAKING THEM FEEL FORCED INTO GIVING UP SMOKING.

Over the years cigarette companies have been forced to give up their advertising etc…. which has meant they have started to focus on the packaging and using it as a way to attract young people. Half of all long term smokers die due to a smoking related illness, over 100,000 deaths per year in the UK are down to smoking. Tobacco companies need to replace the smokers they have lost and they target children and young people to do so. The key thing to remember is, if you become addicted to smoking as a child then it isn't a choice you've made as an adult, it is a childhood addiction.

 Australia introduced standard packs in December 2012 and so far retailers have found it easy to implement. There doesn't appear to be any evidence to suggest it has increased smuggling.

As most regular readers of this blog will know, the CRUK ambassador family went to Westminster in June 2012 to convince MP’s to support the introduction of standard cigarette packs. We also had a petition which over 79,000 members of the public signed to show their support. Over 200,000 members of the Great British Public have contacted the government to show they agree with standard packaging so far.

Years of research has proven very clear links between cancer and smoking. In fact smoking kills five times more people then road accidents, murder, suicide, HIV and overdoses in the UK. One in every four cancer deaths in the UK is directly caused by smoking. a fifth of all cancer cases in the UK are also directly caused by smoking. Cancer Research research shows that smoking is the most important PREVENTABLE cause of cancer in the world.

More then four in five cases of Lung Cancer are caused by smoking. Lung Cancer has one of the lowest survival rates. it is the most common cause of cancer in the UK. Most of these cases are preventable if you give up smoking and allow your lungs to recover.

As well as Lung Cancer, smoking also increases your risk of over a dozen other cancers:
* Mouth
* Larynx (Voicebox)
* Pharynx (Upper Throat)
* Nose and Sinuses
* Oesophagus (Food Pipe)
* Liver
* Pancreas
* Stomach
* Kidney
* Bladder
* Cervix
* Bowel
* One type of Ovarian
* Some types of Leukaemia
* There is also evidence to suggest smoking can increase the risk of you developing Breast Cancer

There are at least 80 cancer causing substances in tobacco smoke. As you inhale the smoke these chemicals are released into your lungs and spread about your body. According to scientists; these chemicals can actually damage your DNA and mutate important genes, making your cells grow and multiply until they are out of control.

There is huge support for this campaign and I do hope the government listens to the facts and the support. There is still work to be done. If you would like to support our campaign then please follow the link below and let your MP know you agree with the introduction of standard packs. In the six months since the consultation closed, over 78,000 more children have taken up smoking. That is a huge number of children and half of those will go on to develop an addiction and die from a smoking related illness. Don’t let it be a child you love, show your support for the campaign today and lets give children one less reason to take up smoking. It will be a huge step in the right direction.

https://action.cancerresearchuk.org/ea-action/action?ea.client.id=149&ea.campaign.id=16993

World Cancer Day 2013

Today is World Cancer Day 2013 and this year is focusing on target five of the World Cancer Declaration: "Dispel damaging myths and misconceptions about cancer".

The purpose of World Cancer Day 2013 is to raise a collective voice to try and improve knowledge about cancer as well as dismissing misconceptions surrounding the disease.

I thought I would mark the day by summarizing a few "key facts" about the disease. 

What Causes Cancer?

Genes tell our cells what to do and are encoded in our DNA. Cancer is caused by damaged or faulty genes. Anything that can damage our DNA can increase the risk of cancer, although several genes within the same cell will need to be damaged for cancer to occur.

Most cancers develop when DNA damage accumulates over a lifetime, which is why cancer affects so many older people. Some people are born with a specific gene fault, which they inherit from their parents, and this can also lead to a heightened risk of the disease developing. Everyone has subtle differences in their genes which can increase or decrease their chances of developing cancer.

However, cancer isn't just caused by our genes and our lifestyles play a huge role in increasing and decreasing our chances of developing certain cancer types. Whilst no one can change their genetic make up, we can take important steps with our lifestyles to try and reduce our chances of developing the disease.

Lifestyle Choices To Consider:
Age - The single biggest risk factor for cancer. As you get older, your chances of developing cancer increase. Nearly 2/3 cancer cases in the UK are occurring in people over sixty five. Obviously this is because as we age, we accumulate more cancer causing faults in our DNA. People live much long nowadays which means our chances of picking up these cancer causing faults are increasing.

Lifestyle - Nearly half of all cancers can be prevented by changes to lifestyle. There are many ways we can try and lessen our risk of cancer:
 * Giving Up Smoking
* Being responsible in the sun
* Eating a balanced diet
* Limiting alcohol
* Regular exercise
* Having a healthy body weight

Carcinogens - This literally translates as "something that causes cancer" They can damage DNA and cause damage to important genes which will lead to cancer. Examples of common carcinogens are:
* Tobacco
* Car exhaust fumes
* Air pollution
* The sun
* Radiation (both natural and man made) for example X-Rays
* Asbestos
Please don't think carcinogens are the only cause of cancer, in most cases they are a contributing factor and are joined by a number of other factors.

Inherited Fault Genes - Obviously this is the factor I am most familiar with. Some people (like Georgie) are born with a gene containing a fault. This doesn't guarantee them a battle with cancer but it does mean fewer things need to go wrong with their DNA for the disease to develop. They are more vulnerable to the disease. They have a higher risk. People with a strong family history of cancer can be genetically tested. It is incredibly important. Please visit www.tp53.co.uk for more information about this. As a family we really do believe more people need to be genetically tested and are trying to make it happen. 

Viruses - There are some viruses that can be linked to some types of cancer. Don't confuse a virus with an infection - cancer is not contagious - you cannot catch it from someone else. some examples of these viruses are:
* Human Papilloma Virus (HPV) is a major cause of cervical cancer
* Hepatitis B and C can cause primary liver cancer
* Human Immunodeficiency Virus (HIV) has been linked to several cancers. This is because it weakens the immune system.

Signs and Symptoms of Cancer:

There are some warning signs that should always be checked out by a medical professional. I am going to highlight them below. Please note, these symptoms do not guarantee you have cancer but they do need to be investigated. Do not think they are nothing to bother your GP about and do not worry about being embarrassed – your doctor will have seen and heard of a lot worse trust me!

Signs of cancer for both men and women:
* Usual lump or swelling anywhere on your body - Men should pay particular attention to any lumps in their testicles and women should pay particular attention to any breast lumps. Everyone should watch out for lumps on your neck, armpit, abdomen, groin or chest area. The best time to have a check is probably when having a bath or shower. Have a good feel and know how your body feels so if any lumps do appear you can detect them easily.

* A mole that has changed shape, size or colour - most moles are harmless. However be aware of them because if a new mole appears or one changes colour, shape or size then it will need to be checked. If any mole begins or ooze, bleed or become crusty then please make an appointment with your GP ASAP.

* A sore that hasn't healed after several weeks - our skin is usually able to repair itself easily (within a week or so) If a spot, wart or sore isn't able to heal itself after three weeks then please go to your doctor.

* An ulcer in your mouth or on your tongue that has been there more then three weeks - most people get mouth ulcers when they are feeling run down. Usually they are nothing to worry about. Usually the lining of your mouth will renew itself every two weeks so an ulcer won't last much longer then that. However is an ulcer does last long then three weeks please visit your doctor or dentist.

* A cough or croaky voice that lasts longer then three weeks - these are symptoms of a cold. Usually they disappear after a week or so and are not signs of anything serious. But if they do last for longer then three weeks or if they get persistently worse then please do go to your doctor. ESPECIALLY if you are a smoker or have been a smoker.

* Persistent difficulty swallowing - Lots of medical conditions can affect your ability to swallow. If you are having difficulty and it lasts longer then a week or so then you should go to your doctor.

* Indigestion - There are lots of foods, especially fatty or spicy ones that can make you feel uncomfortable after eating them. If this is happening to you a lot or is really painful then it should be checked out.

* Blood in your urine - This should ALWAYS be reported to your doctor. It might not mean cancer but it should always be looked at.

* Problems passing urine - It is common for men to have difficulty passing urine as they get older. You may need to pee more often then you used to and it can sometimes be painful. Usually it is caused by a common condition causing your prostate to enlarge. It it not often cancer but if you are having trouble please visit a doctor. Most women experiencing problems with urine are suffering from an infection but if you need to pass urine more urgently then normal or are in pain whilst doing so, please get yourself checked out.

* Blood in your bowel movements - This is usually caused by piles which is caused by straining when you are going to the toilet. It can also be a sign of cancer so please stay vigilant.

* A change in your bowel movements that lasts longer then six weeks (diarrhoea) - this is usually caused by stomach bugs or food poisoning. If it lasts longer then a few weeks please get yourself to the doctors.

* Unexpected weight loss - It is normal for your weight to fluctuate slightly. However if you are not on a diet but are losing lots of weight please get a check up.

* Heavy night sweats - these are usually brought on by infections and some types of medications. They are also common in women going through the menopause. They can also be caused by some cancers so please take care if you are experiencing them regularly.

* Unexplained pain or ache that lasts longer then four weeks - Pain is our bodies telling us something is not right. Take notice of any pain and if it is persistent or getting worse then go see your doctor as soon as you can.

* Coughing up blood - ALWAYS go to see your doctor as soon as this happens.

Signs of cancer in women specifically:
* An usual change in your breast - lumps are not the only sign of breast cancer. Changes to your breast's appearance, shape or feel are also signs as are changes to the texture of the skin, any redness or changes to your nipples. Pain in your breast is also a sign. If you experience any of these, don't panic but visit your GP ASAP.

* Bleeding from the vagina after the menopause or in between periods - Spotting (bleeding between periods) is common for females taking the contraceptive pill. However if you are bleeding during or after sex, between periods or after going through the menopause then it should be check out straight away.

* Persistent bloating - Bloating is the blight of lots of women's lives. If it happens persistently please have a check up.

Some of these symptoms may seem embarrassing or silly. Don't ever feel embarrassed to see your doctor - they have seen it all and do not judge. Don't ever feel like you're bothering your doctor or wasting a time slot - if you have a concern or symptom, they are there to listen, to check and to reassure. If you are worried or think you may need to see a doctor then please don't deliberate, make the appointment as soon as you can. Early diagnosis saves lives. It also puts your mind at rest if nothing is actually wrong with you. Don’t be too scared to visit your GP. Remember, most of the time it will be absolutely nothing to worry about. It is ALWAYS best to get seen as soon as possible because it is always best to catch something as early as possible. If you are really nervous then take someone you trust with you.

Knowing Your Body

I have said this time and time again but knowing what is “normal” for you and your body is massively important. Knowing what is normal makes it easier to know when something isn’t quite right. It makes it easier to know when a consistent change is occurring and it will hopefully lead to you seeking medical advice quicker. Examples of getting to know your body include:

MEN – check your testicles at least once a month. Get to know how they feel; their size, their shape etc…..

LADIES – Check your breasts once a month to get to know what is “normal” for you and to check for any new and unexpected lumps, bumps and changes

EVERYONE - It may sound crude, but get to know your toilet habits. Know what is normal for you. Do you go twice a day or twice a week for example?

REMEMBER IF A CHANGE LASTS MORE THEN THREE WEEKS – GET TO YOUR GP!!!!

Some Positive Facts About The Fight Against Cancer:

I want to end this post by highlighting some positive statistics about the progress being made against cancer. We are making huge strides and more and more people are surviving every year. Cures are within our grasp.

*More then 9/10 men with testicular cancer survive and are cured of the disease.

*More than ¾ of children are surviving cancer compared to ¼ surviving back in the 1960’s.

*The three most common cancers in the UK are breast, bowel and lung cancer and they have all seen their death rates drop to their lowest level in forty years.

*The number of deaths from cancer are continuously dropping

*The number of people surviving cancers such as prostate and skin have dramatically improved

*The amount of people surviving more then ten years after a cancer diagnosis has DOUBLED over the past three decades

*The number of people surviving more then five years after a cancer diagnosis is now HALF of all cancer patients

*For cancers with low overall survival rates, early diagnosis does still mean chances of beating the disease are higher.

For information on specific lifestyle choices, specific cancer types, cancer charities and plenty more factual information about issues surrounding cancer, please have a look at this page and find the post that interests you.

http://pennysophia.blogspot.co.uk/p/information-posts.html

Losing six relatives to cancer has been horrific and I remain determined to work hard and play a role in defeating cancer. I strongly believe cures will start to be found during my lifetime and I look forward to that day.

On World Cancer Day I send my love to everyone fighting cancer across the world right now, and their loved ones too. I raise my glass to all those that have been lost, especially Georgie, Auntie Eleni, Dada Sotiris, Nouna Gina, Yiayia Alexandra and Buppou Peter.

xxx