Last year, I made the focus of Rare Disease Day 2016 – Making the voice of the patient be heard, the focus of my first article for my ‘Living the Dream, Scleroderma Style’ Column at Scleroderma News.
In May 2016 I had the pleasure to co-present with the lovely Aortic Dissection survivor, Timo Soderlund from Sweden, and Rob, he is lovely also, from RareConnect on ‘How to start an awareness day for your rare disease’
- Early diagnosis, to prevent life threatening damage therefore increasing life survival
- Education and Awareness, with a holistic approach from a multidisciplinary medical healthcare specialist center
- Research and Development investment with immediate access to innovative treatments
- Specialist Centres are essential for best practice in managing the medical needs of the rare disease patient
'80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
These statistics highlight the magnitude of combating the rare disease plight. However, although there are currently 6000 – 8000 identified named rare diseases, they all bare the same hallmarks, whereby an early diagnosis and access to innovative medicines is crucial to increase survival rates.
I have previously written about the importance of an early diagnosis click here
As well as, the importance of the importance of expert specialist centres click here
This is particularly relevant to the Raynaud’s and Scleroderma patient where no two patients present with exact identical symptoms, making for a medical diagnostic and treatment challenge to the healthcare practitioner, and a journey of anxiety and hope to the patient.
There is just a year left until the 5th Systemic Sclerosis World Congress to be held in Bordeaux, France.
It is my current BIG goal / personal challenge to be physically able to move this tin man body, view more click here, out of hibernation, to attend the 5th Systemic Sclerosis World Congress.
However, I must be realistic, as I have been wanting to attend all of the previous World Congress meetings, but sadly, the physical exertion of travelling, combined with a few days away from my home comforts (bed/ couch / dream team) has been too much to even contemplate.
However, this year, other than my medical appointments and any APPG Rare Disease meetings, my time this year, is dedicated to getting this body into training to try and realise the World Congress attendance dream, in a year. I wrote about The Raynaud’s Scleroderma Olympian here
Here in the UK, the Government has committed to implementing the UK Strategy for Rare Diseases by 2020. To view the document click here.
I will be writing more about this and the significance to the Raynaud’s and Scleroderma patient in due course. Other European policies and US policies can be viewed here.
Sadly, this year I will not be in attendance at the Rare Disease UK Parliamentary reception at the Houses of Parliament (my favourite place). Having attended last year, this experience still remains one of my few patient highlights of the last 20 years.
I was delighted to have had one of my articles included on the official Rare Disease Day 2016 press site as well as, my article was shared on the official Facebook page.
Here is the link to the official Rare Disease Day 2017 video.
I think that this video is a fantastic reflection of the rare disease patient’s faith placed in the hope, which medical research brings.
To keep up to date with events, please follow the Rare Disease Day updates at Scleroderma News, as well as, on my
100% of any donation will be used to fund medical research led by Prof Chris Denton and Dr Kevin Howell – both super geniuses in this niche rare disease, medical field, and whom, share the same dream #SclerodermaFreeWorld #RaynaudsFreeWorld.
Please check the corresponding Facebook links out:
- the importance of an early diagnosis click here
- the role of medical research click here
- the importance of expert specialist centres click here
- diet and nutrition click here
- taking part in research trials click here