Rare Disease Day - 28 February 2021
This month the focus is on people who are often left behind, those with rare diseases can find it hard to voice their needs and support measures required in order to participate and/or become coaches themselves. So in part one we will look at the charities who join together this month to support people to be at their best health condition, educate those in the sport and exercise field so that they can support these hard to reach participants and share inspiring stories of those who do participate in their chosen sports and exercise programmes despite their health needs.
Once the health is understood and ready to go then the real action gets moving! There are Charities To Support with examples of the effects and modifications that may be required to support their audience. But they are often small or in the case some run entirely by volunteers. Rare disease day gives the potential to join forces and have a louder voice, reaching more people and understanding the importance of recognising these often potentially life limiting and/or life threatening conditions.
Rare Disease day is a celebration that occurs on the last Sunday of February with the goal of the day held annually to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases. It brings together a collective number of countries and a very visual display of its importance is through this years aim to help the rare disease community be united by a chain of lights across the world. With COVID-19 an additional pressure this chain aims to create a symbolic ways to break isolation globally. Everyone can contribute from wherever you are. Could be a person living with a rare disease, an individual, a family member, a healthcare professional, an industry representative, or a public official. The organisers are encouraging people to find and work with an organisation to help spread the word and raise awareness for people living with a rare disease. The USA, France and Italy have already signed up national buildings and monuments which will be illuminated in Rare Disease Day Colours and this will clearly strengthen the international impact!
However, Rare Disease day isn’t just about finding a collective voice and a platform to share stories through podcasts, social media sites, cultures and support networks. It’s about finding acceptance into society and beyond. Here we will look at the UK and Global awareness and then focus in on a rounded approach utilising; The Pituitary Foundation UK and The Addison’s Self Help Group alongside Action For Happiness where we aim to unlock the 10 keys to a happier, healthier individual. This will demonstrate the difficulties faced but also allow acceptance and support to be given through awareness of The Rare Disease Community.
In The UK
The UK Government has recently produced it’s Rare Disease Framework and the introduction alone sets out the prevalence of disease;
‘A rare disease is defined as a condition which affects less than 1 in 2,000 people. It is currently estimated that there are over 7,000 rare diseases, with new conditions continually being identified as research advances’.
‘Although rare diseases are individually rare they are collectively common, with 1 in 17 people being affected by a rare disease at some point in their lifetime. In the UK this amounts to over 3.5 million people’.
It is clear that this Framework is trying to address the speed of and accuracy of diagnosis and some success has already been shown;
‘Through the delivery of the ground-breaking 100,000 Genomes Project, the UK has been at the forefront of harnessing the potential of cutting-edge genomic science for rare disease patients, particularly when it comes to diagnosis. The 100,000 Genomes Project has helped 1 in 4 patients with an undiagnosed rare diseases receive a diagnosis for the first time’. (https://www.gov.uk/government/publications/uk-rare-diseases-framework/the-uk-rare-diseases-framework)
A Global Issue?
It is definitely not just the UK as rare disease day report that;
Over 300 million people around the world are living with a rare disease.
72% of rare diseases are genetic.
70% of genetic rare diseases start in childhood.
(Research recently published in the European Journal of Human Genetics, article authored by EURORDIS-Rare Diseases Europe, Orphanet & Orphanet Ireland “Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database”).
There is clearly a long way to go and this is not just a UK problem this is a global issue, hence the need for Rare Disease Day. Much like the fight against the CORONA virus our scientists are at the forefront of tackling and pledging to solve the issues concerned
Getting Involved
At the time of writing the World Events Programme has 491 events taking place across 97 Countries! These include meetings, workshops, fund raising events, face painting, writing and photography competitions and sending letters to policy makers and health care providers. You can find out how to get involved here.
The downloads page has an Information Pack, Logo’s, Factsheets and a style guide. For social media fanatics there are picture frames, badges and a social identity pack. There are also posters, pledge cards and if you’re after something a bit different theres a chance to become artistic with material that you can customise yourself!
From the perspective of a coach recognising and understanding that these conditions exist could really help and support your participants/athletes or potentially allow you to be more comfortable in adjusting delivery to new members as well.
Structured Support & Guidance For Those With Rare Diseases
For the purpose of this report we will focus on The Pituitary Foundation & The Addison’s Disease Self Help Charities who cater for and support thousands of people who are affected by the problems that the very small pituitary gland can cause. For example Pituitary Insufficiency where the adrenal glands do not produce enough cortisol. With Addison’s Disease the adrenal glands no longer produce cortisol themselves. This hormone helps the body to respond to stress including any additional illnesses, injury, surgery, bereavement and exercise. It also helps maintain blood pressure, heart function and the immune system.
With conditions also being both life threatening and life limiting, exercise and fitness goals are not always of paramount importance to patients. Although, this is something that charitable organisations can promote, for some it seems unachievable or daunting because of the considerations they must make and undertake in order to complete simple daily tasks, whilst others with the same condition could and have made Olympic Teams. That shows the diversity and complexity of the issue we face. Promote the ‘Olympic’ too much and those seriously affected may well back off, whilst others will find it inspiring. Promote the basic only and some will think that’s their limit when they could achieve much more.
Throughout the pandemic both of our main charities have created specific COVID pages to support those individuals whom suffer with these conditions.
The Addison's SOS Support Page looks at many factors including what to do if you feel unwell, how to cope if you are in hospital or need to be taken into hospital and how to cope with difficult feelings and emotions. work related advice, balancing Addison’s with other conditions and support for young people/their carers.
For members of the association there is a great opportunity to share stories with others on the Online Forum.
The Pituitary Foundation UK CORONA Advice page includes information such vaccine updates, sick day medication rules, ways to stay safe and links to relevant organisations such as The Society of Endocrinology.
There are of course many other charities and organisations that are trying to help and support as well as individuals sharing their stories through numerous blog posts. You can find a recommended list from The Pituitary Foundation (UK) here. Many of these are written by patients and cover a whole range of topics.
The Pituitary Foundation’s, Chief Executive, Menai Owen-Jones has already published her response to the The Rare Disease Framework. saying that;
‘We agree with the priorities outlined in the new UK Rare Diseases Framework. They echo many of the issues experienced by pituitary patients, including for example: delays in diagnosis; lack of knowledge amongst healthcare professionals, challenges around multi-disciplinary and co-ordinated care provision and accessing treatments. These priorities however do not reflect the full extent of the complex challenges faced by many people living with a pituitary condition. We recognise nevertheless, the need to rationalise priorities in this overarching Framework and that they were informed by the most common views expressed in a National Conversation on Rare Diseases Survey 2019.(”https://pituitary.org.uk/news/2021/01/welcoming-the-new-rare-disease-framework/)
Action for Happiness is a different kind of charitable organisation. They are focused more widely around health and well being and be a great support to anyone with Rare Diseases. They also have a special COVID page titled How To Respond. Their approach is simply to Listen To The Experts, whilst remaining calm and make wise and kind choices, therefore complimenting what the specific disease charities have to offer. These are generally small and therefore have less opportunity to really get their voices heard.
Exercise When You Have A Pituitary Condition/Addison’s Disease.
From diagnosis to participation can be a long road. Some people are born with these conditions whilst many will develop them much later in life. From personal experience of a diagnosis of Addison’s Disease suddenly the fear of the potential issues with exercise and sport meant that it was a struggle to return to training despite having the right medication to be safe. It’s a confidence problem and awareness of when to take that medication which can be so difficult. A period of change occurs when you suddenly have to carry a shock pack with you! Rare diseases are often difficult because medication can take the regular format but also require top up’s based on symptoms caused by extra stress on the body or an illness and participation in exercise.
How To Stay On Top Of An Exercise Programme with Addison's Disease is a working example of adjustments that sufferers need to make to their medication according to the amount, level, impact, duration and intensity of exercise. As you’ll see by the image below this is not a simple task and requires understanding and support.
Action For Happiness
Action For Happiness promote 10 Keys To A Happier Living based on the latest research that consistently tend to make life happier and more fulfilling. Together they spell "GREAT DREAM”. They include;
For each of the ten you'll find information, questions, resources and suggested actions to help apply them in your daily life. You can read a summary here. More detail is found on the Happier Living Examples page. This looks at a person as a whole and how to achieve happiness through the balancing of;
Doing things for others
Connecting with people
Taking care of your body
Living Life Mindfully
Learning new things
Have goals to look forward to
Finding Ways to bounce back
Looking for what’s good
Be comfortable with who you are
Being a part of something bigger
You are encouraged to explore the scientific research, reflect on what is good for you in each area and then make small changes through inspiring actions that can make a big difference as an individual, partnership, group or family.
There is a comprehensive 28 page GuideBook which you can download for free. This brightly coloured, interactive resource is set out clearly and easily accessible. Each section has three steps which are preceded by a positive vibe quote;
A question
Inspiration
Action ideas
It’s very visual and not as scientific as the Happier Livings examples which is great and although you are essentially looking at the same thing this will appeal to visual learners, teenagers and those who prefer simple yet effective ideas.
What’s also great about this approach is that they also support children.Through the schools toolkit support programmes you can find resources for both KS1 and KS2 pupils including a downloadable guidebook. Particularly handy at the moment for home schooling reasons! 50 ways to feel happy is a fantastic resource with posters as well which again can help young children through this difficult time.
If that’s not enough then one of their great resources are the monthly calendars .These are brightly coloured have tasks on them that aim to help you create a happier and kinder word. Print them off and pop them up on the fridge and have a try! Great for family well being as all the 10 keys are tapped into throughout each month.
If you find this fascinating and appealing to you or for someone else then they also have a book which you can purchase from Amazon or Hive and an app that you can download here. The App is fantastic and once signed up you’ll get some daily positive quotes flying your way to help you re-focus your mind and make you smile. If you wish to then there is a ‘community’ that you can be a part of as well.
So a whistle stop tour that demonstrates;
The need for Rare Disease Platforms and research/awareness
The complexity of accessing exercise and sport for those with Rare Diseases
Simple steps that can help with both health, mental health and access to exercise.
This will enable progress towards equality and acceptance into society and the confidence for all providers, deliverers, patients and medical clinicians but not as ‘RARE’ as normal! All links for this blog are shown below in full.
As always, hope this has got you thinking, recognising the need for change and a different outlook and openness to change, variety and acceptance.
Stay Well, stay safe…..
Next up on the 21st February
There are now such regular mentions of the ‘Shielding & Vulnerable’ within political speeches and pandemic news that it would be assumed that these individuals and specifically those shielding would have be considered to have a rare disease and perhaps the same for the vulnerable. In truth this is categorically wrong, although a valid statement to assume. So why this group in amongst Rare Disease month? How are these groups defined? Plus, how does it translate to access to Sport & Exercise?
Below you can find all the links to websites and research used in the main text.
The Pituitary Foundation - Recommend Blog Posts
The Pituitary Foundation - Response to The Rare Disease Framework
GOV.UK - HTML Version Of The Rare Disease Framework
https://www.gov.uk/government/publications/uk-rare-diseases-framework/the-uk-rare-diseases-framework
GOV.UK - PDF Document Of The Rare Disease Framework
Rare Disease Day = What is It?
Research programme - Rare Disease day
Rare Disease Day - Events Around The World & How To get involved.
Action For Happiness Home Page
The 10 Keys Of Happiness
Happier Living Guidance
Ten Keys To Happier Living Explained
Action For Happiness - 50 ways to Feel Happy For Children
Action For Happiness - App For Apple & Android
Action For Happiness - How To Respond To COVID-19
Action For Happiness - School Support Programme
Action For Happiness - Monthly Calendars
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