So in this the finale of the series around Rare Diseases we want to share some stories, medical conditions and most importantly how you can access exercise and physical activity or provide it, whilst respecting the conditions people have to overcome, acknowledging that they exist and showing compassion and support.
We have looked at what rare diseases are, the charities that support them, scientific ways to approach treatment and explored the differences between Rare conditions, those that fall under Shielding and Clinically Vulnerable and the Vulnerable.
Today however, the focus needs to be on the promotion of Rare Disease Day and what it’s all about and how it can allow people who suffer with these conditions to come together and produce some beautiful light displays to mark the occasion. To actually listen to some peoples experiences so that as inclusive sport/exercise participants/coaches you can find a way for everyone to have access to whatever sport and exercise they can/wish to participate in regardless of ability, energy, symptoms and medications. Plus for those with these conditions to be supported and feel that they can reach out and ask about exercise and find what they are looking for.
Let’s set out on the basics of Rare Disease Day itself!
The sharing of stories and some conditions and adaptations are needed as exercise and sport participation are essential. So lets understand the purpose first…
What is Rare Disease Day? An opportunity to raise awareness amongst the general public as well as health care and wellbeing sectors about Rare Diseases and how patients are affected.
When? Every year the Rare Disease Community come together on the last Sunday of February. However, the build up starts well before the designated day with significant presence through all social media mediums, raising the profile with podcast stories and poster downloads, events through the early part of the year and letters to hierarchy who have the ability to initiate changes in the way that people with rare diseases are viewed, supported and managed within health care settings within individual countries and linking with others to create more momentum.
Who is it for? The day gives people with Rare Diseases a platform to express and share stories on a global level, interacting with wider groups and organisations to voice their views.
Where? Initially the Rare Disease Day was a European Event, but now with countries such as the USA joining in 2009 plus additional countries following their lead and so by 2019 over 100 countries had joined creating National Alliances. The day brings together organisations who support Rare Diseases in each area to create a larger presence and maximise the impact of the day. Each work tirelessly throughout the year on an individual basis and in conjunction with each other where conditions and symptoms overlap.
Why? It is estimated that 1 in 20 people will suffer from a rare disease at some point in their life, they are usually difficult to diagnose and to manage. Many go undiagnosed and although treatments are available there are not usually actual cures, so by raising awareness it is hoped that Governments and Scientists will come together like the UK Government who have recently released their Rare Disease Framework to support and develop diagnostic tools and put names to conditions.
How? Numerous events are being held across the world in 25 countries which considering the pandemic that we are facing is an incredible feat. The UK have been front runners as this shows;
‘The UK has engaged in Rare Disease Day since it’s beginning in 2008. Taking a political approach, many patient organisations have held receptions and debates focused on rare disease policy in local and national parliaments. In previous years, celebrations have spanned up to 13 cities with conferences, family days and a fundraising dinner.The UK held a vast number of events in 2020 aimed at raising awareness for rare diseases. Ranging from its first ‘Rare’ film festival to a drug repurposing conference to a traditional British tea party and gala dinner. Inclusive efforts were seen across the country providing activities for all members of the rare disease community. Genetic Alliance UK held receptions in cities in Scotland, Wales and England to spread important messages to the community’.(https://www.rarediseaseday.org/country/gb/united-kingdom)
A Few Examples!
Meet Our Heroes is a fantastic blog post that highlights six people, living with different rare conditions from 6 different countries, showcasing the range of complex medical conditions and how they affect people in their daily lives. This gives an idea of just a few conditions across the wide spectrum that is the Rare Disease Community. These are the portraits that this year’s programme is fuelled upon and there are many great blogs and articles stretching far and wide.
For some it’s getting to the diagnosis that is the issue and that is highlighted in this piece, Diagnosis, misdiagnosis, or no diagnosis – how rare diseases go under the radar. Read the stories of Alex who had many misdiagnosis, Leanne who waited nearly 20 years to get her diagnosis of Ehlers Danlos Syndrome and baby Jayden who is still waiting for a diagnosis. The strain this can place on not only the person in pain and suffering but the whole family is significant.
This is then followed by another great report Sport and Exercise can be a Valuable Therapy For Rare Diseases, which is an essential document for those with Rare Diseases, coaches/instructors and Governing Bodies across all sports and activities. This includes; Charlotte from the UK who has Osteogenesis Imperfecta (Brittle Bone Disease), Matteo from Italy who has Ectodermal dysplasia syndrome (a condition where parts of fingers and toes are missing) but loves football and Alessandra also from Italy who has a neurological disorder that causes muscle wasting. Her passion is Golf and she has competed for both Scotland and Italy in Disability Competitions.
Time to Heals Blog Rare Disease Day kicked off this series and looked in depth at two conditions that have a serious impact on the lifestyle of Pituitary Patients. These were Pituitary Insufficiency and Addison’s Disease, how they can be managed and alterations that can/have to be made to enable participation in sport/exercise, the challenges that brings, the anxiety it can cause and sensible adaptations required. (Contact with the Pituitary Foundation can be found here and The Addison’s Self Help Group here) It also looked at Action For Happiness, a Charitable Organisation who through extensive research have identified 10 Key Steps including exercise and health management to support people with a well rounded programme. You can review this here.
Another example of this is But you Don't Look Sick which is a site run by Christine Miserandino who suffers from Lupus Disease.
‘Lupus is a systemic autoimmune disease that occurs when your body's immune system attacks your own tissues and organs. Inflammation caused by lupus can affect many different body systems — including your joints, skin, kidneys, blood cells, brain, heart and lungs.https://www.mayoclinic.org/diseases-conditions/lupus/symptoms-causes/syc-20365789
Miserandino has been a very passionate driving force in the world of rare diseases for many years and especially those that are invisible. Her determination and commitment has been incredible, amassing a large following and aiming to provide information which can help people to lead better lives. Providing knowledge, networking, friendship and of paramount importance support to some of the most vulnerable people world wide.
In order to explain her condition and its impact on her life she has produced a well known document called The Spoon Theory. Its a highly impressive forward thinking way to explain how people with invisible and rare conditions can use the theory of having a certain number of spoons each day which equates to her energy levels and how she has to utilise these each day in order to keep her condition and symptoms stable.
This is an invaluable document that can be utilised by anyone suffering from not only a rare disease but any chronic medical condition where fatigue is a symptom. Providing understanding of the importance of pacing, chunking, varying levels of health and an easy way to support yourself/others to enable exercise and sport to be managed and balanced carefully against a health condition. A great strategy could come from this in either a physical, sensory or verbal presentation. Take an example of 10 spoons of energy to last the day. Options for delivery in a sport and exercise session could be;
Ask yourself/participant how many they have for exercise that day
Have 10 spoons and select/request how many spoons
Draw out 10 spoons on a chart and ask the participant/yourself to point to the number
Simply utilise fingers as a very quick visual aid
Select your approach depending on the individual and their physical and mental capacity. A truly adaptable resource which is already widely utilised to great success.
If this has sparked interest then here are many other ways to interact and understand what people are going through with a series of Podcasts being promoted via Spotify that also provide support mechanisms. For example Katy Baker reports that; ‘
‘This is a platform where I raise awareness of something that affects 1 in 17 people, rare disease. By chatting to patients, health professionals and advocates, we talk about all aspects of rare disease including relationships, mental health and much more. I cannot wait for you to hear some truly inspiring stories from some absolutely amazing people’.(https://open.spotify.com/show/5x2J1uJa2p8XnyE1lN1oMB?si=p0TiQzVGTqqNsXchSTxuaw&nd=1)
So Now The Outcome!
Knocking down barriers, getting rid of the obstacles and accepting that everyone is different are what we would love to see as the end result at this time of huge preparation, effort and team work all directed to create a better way of life for those diagnosed with a rare condition.
So stay safe, remain vigilant, be accepting, show empathy and try to be positive.
Some Helpful Links from this report
Rare Disease Day - How Sport & Exercise Can Be A Valuable Therapy For Rare Diseases
Rare Disease Day - Meet Our Heroes
Rare Disease Day - Long Diagnosis
Definition & Information Of Lupus Disease
Time to Heal - Rare Disease Day/Month
The Pituitary Foundation UK
Addison’s Disease Self Help Group
Action For Happiness Home Page
The 10 Keys Of Happiness
But You Don’t Look Sick Homepage
The Spoon Theory By Christine Miserandino
Katy Bakers Spotify Rare Disease Podcasts
Coming up…..As we approach March we have both International Women’s Day and Mothers Day to celebrate and so we take the opportunity to look at a key exercise campaign called ‘This Girl Can’ and focus on Mothers and Daughters health, well-being, special bonds and the ability to exercise together in safe environments.
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