Rare Disease Day!

 

February 29^th is Rare Disease Day, an annual event co-ordinated by EURORDIS at the international level and National Alliances of Patient Organisations at the national level.

The main purpose of the day is to highlight and raise awareness to the public and decision makers about rare diseases and their impact on patients’ lives

Rare Disease Day was first launched by EURORDIS and its councils of National Alliances in 2008.  With more than 1000 events taking place over the past four years, the publicity and media attention that has been generated, has enabled information to reach hundreds of thousands of people, including patients and patient representatives, as well as targeting policy makers, politicians, public authorities, researchers and anyone who is interested in rare diseases. 

The political momentum resulting from the day has also served for advocacy purposes and consequently has led to the advancements of national plans and policies for rare diseases in a number of countries where health inequalities may also be prevalent. 

What is a rare disease?

Information from the EURORDIS website describes a rare disease, also referred to as an orphan disease, as a disease which affects a small proportion of the population, that is less than 1 in 2000 citizens (Orphan Drug Regulation 141/2000). 

Most rare diseases are known to be genetic, chronic, degenerative, life threatening and where there is no existing effective cure.

It is estimated that there are between 6,000 and 8,000 rare diseases and each disease can be so broad and diverse that even symptoms and suffering levels for the same disease can vary from patient to patient.  In many cases, where symptoms are not always immediately evident, or where symptoms are common, can often lead to misdiagnosis and further pain.

For many rare diseases, there is often a lack of scientific and quality knowledge of the disease, which not only delays access to the appropriate diagnosis and medical procedures, but it is also detrimental for the patients’ health and wellbeing.    

The evidence shows that around 75% of rare diseases affect children and that 30% of rare disease patients die before the age of five.

Bring About Change

Advocates believe that by developing appropriate public health policies and implementing a comprehensive approach to rare disease, will help to eradicate many of the existing hurdles experienced by patients and their families.  Similarly by increasing international cooperation in scientific knowledge, and the sharing of knowledge of rare diseases, will subsequently lead to faster and new diagnosis as well as therapeutic procedures.      

Undeniably people with rare diseases often experience high level of pain and suffering, which impacts on their surrounding family and friends.  It is hoped that with worldwide growing interest in rare diseases and the need for further research and awareness, one of the objectives of the day is for WHO to recognise the last day of February as the official Rare Disease Day.  For further information on the events and the day please visit the official RareDiseaseDay website and the EURORDIS homepage 

Drinking Water can improve our Moods

We are continually being reminded to drink water and keep hydrated.  Experts and health advisors claim that drinking water is essential for maintaining your health and general well-being.  It helps keep our skin looking fresh, aids digestion and removes toxins from the body.  However, recent research has now found that dehydration has a correlation with our moods and cognitive ability. 

Two recent studies, conducted at the University of Connecticut’s Human Performance Laboratory, found that being even mildly dehydrated could alter a person’s mood, energy levels and ability to think clearly.

The results from the study highlighted the importance of staying properly hydrated at all times and not just during exercise or extreme heat.  It found that regardless if a person had just walked forty minutes on a treadmill or was resting, the adverse affects from mild dehydration were equal.  Mild dehydration is defined as an approximately 1.5 percent loss in normal water volume in the body.   

Lawrence E Armstrong, one of the lead scientists for the study and an international expert on hydration says that, “our thirst sensation doesn't really appear until we are 1 or 2 percent dehydrated. By then dehydration is already setting in and starting to impact how our mind and body perform,"

Armstrong also highlighted that dehydration affects everyone and staying adequately hydrated is just as important for those who work all day at a computer as it is for those who are exercising. 

The Research

The study, which was published in The Journal of Nutrition, consisted of separate tests for young women and young men.  Twenty-five women aged around 23 and twenty-six men with an average age of 20 were selected for the research.  All the participants were considered to be healthy and active individuals.

The participants were required to walk on a treadmill to induce dehydration, and all of the subjects were hydrated the evening before the tests began.  As part of the research, each participant was put through a number of tests that measured vigilance, concentration, reaction time, learning, memory and reasoning.

The results were then compared against a separate series of tests, whereby the individuals were not dehydrated. 

The research found that the young women who had mild dehydration suffered from headaches, fatigue and consequently had difficulty concentrating and carrying out certain tasks. 

Similarly the study showed that the young men who were mildly dehydrated, experienced difficulty with mental tasks, particularly in the areas of vigilance and working memory.  It was also noted that the same group of men also suffered from fatigue, tension and anxiety. However, the study pointed out that these adverse changes in mood were notably more prevalent in females than males, both at rest and during exercise.

Harris Lieberman, the studies’ co-author, stated that, “even mild dehydration that can occur during the course of our ordinary daily activities can degrade how we are feeling – especially for women, who appear to be more susceptible to the negative affects of low levels of dehydration than men”

Lieberman explains that is very important for both sexes to keep hydrated throughout the day because, as the study demonstrates, mild dehydration can negatively impact mood and de motivate someone to engage in moderate exercise and interfere with daily activities.    

It is unclear why women are more affected by dehydration than men, and this is an area of research that requires further exploration.  However, other studies have pointed to the idea that neurons in the brain detect dehydration and consequently signal other parts of the brain regulating mood. This process has been identified as part of an “ancient warning system” to protect humans from more dire consequences, by alerting them to the need for water to survive.

Recommendation

Experts suggest that in order to stay hydrated, people should be consuming around two litres of water a day, that is eight glasses of water.

For further information on the benefits of keeping hydrated and tips to make sure you are drinking enough water, please visit the Water Aid website  

International Childhood Cancer Day

Today, February 15^th is International Childhood Cancer Day.  The International Society of Paediatric Oncology (SIOP) and the International Confederation of Childhood Cancer Parent Organizations (ICCCPO) are launching a health advocacy campaign to help educate the public in recognising the early warning signs for childhood cancer. 

Worldwide, 175,000 children are diagnosed with cancer each year and it is estimated that more than half (90,000) will die from the disease.  Clearly, these high death figures give cause for concern considering the fact that seventy percent of all childhood cancers are curable when diagnosed and treated early.

Statistics reveal that cancer is the second leading cause of death among children in developed countries.  The most common type of cancer in Europe, Americas and East Asia is Acute Lymphoblastic Leukaemia.  

One of the issues surrounding late detection of the disease is because symptoms of cancer often get interpreted as common childhood ailments, as Dr Gabriele Calaminus, President of SIOP points out.

Kenneth Dollman, President of ICCCPO says “By dinner time tonight, someone’s son, daughter, sister or brother, an estimated 440 children, will have been diagnosed with cancer, while 250 children from around the world would have succumbed to it”  

Figures from Cancer Research UK shows that 1,550 children are diagnosed with Cancer each year, of which around 260 children, under the age of 15, die as a result.

It has been acknowledged that children in wealthier countries have an eighty percent cancer survival rate, however, this figure is reversed for those living in poor socio-economic settings.  It is estimated that around eighty percent of children with cancer die due to late detection and limited access to appropriate treatment.     

"Delayed diagnosis significantly diminishes survival rates.  While in resource-rich countries, 8 out of 10 children survive, only 2 to 3 out of 10 children will survive in low and middle-income countries" explained Dollman. 

Today SIOP and ICCCPO, with its members from around the world will be reaching out to communities, schools, hospitals and the public to disseminate critical information about childhood cancer. 

For further information about childhood cancer, awareness, symptoms and support please visit the Be Child Cancer Aware at http://www.bechildcanceraware.org/.   

Smoking – A Big Turn Off

A recent survey, conducted by the Department of Health (DoH), shows that people who smoke could potentially be limiting their romantic chances of meeting someone, because the majority of the population find smoking off putting.


The DoH says to boost your chances of dating success this Valentine’s Day (February 14^th) quit smoking!

The poll surveyed 1,700 people, of which, half claimed that they would think twice about starting a serious relationship with a smoker.   Three-quarters of people aged between 18 and 24 said they would not kiss someone who had just smoked and agreed that smoking makes people less attractive.

The BBC news also pointed out that anecdotal reports from dating agencies appear to support the evidence reported by the DoH that people, in search of a partner, really did prefer non-smokers.

Popular relationship websites such as eHarmony.co.uk states that eighty-one percent of its members would not partner with a heavy smoker.  Similarly, at Match.com seventy-two percent of male members and seventy-three percent of female members, specified that they wanted a “non-smoking” partner.  At Mysinglefriend.com over half of its members (sixty-seven percent) said that smoking would put them off dating someone.

Sarah Beeny, founder of Mysinglefriend.com said; "It's particularly obvious that non-smokers find it harder to live with a smoker, so by giving up you not only increase your dating market, but protect the years you have together when you do settle down."

Statistics complied by Action on Smoking and Health (ASH.org.uk) shows that currently in the United Kingdom, more than ten million people smoke and it is estimated that half of these are likely to die from smoking-related diseases if they do not stop.  Every year, over 100,000 smokers die from smoking related diseases.

The DoH suggests that by quitting smoking, people could increase their life expectancy by 16 years.

We are all aware of the harmful affects of smoking to our health, and although the evidence suggests that in our quest for love, people do prefer partners who are non-smokers, the bottom line is that people need to make positive health changes for themselves. 

For advice on stopping smoking visit the NHS Choices website and see the benefits you can make to your help