Wednesday, 26 April 2017

Rare Disease Day, February 28th 2017 - MEDICAL RESEARCH



Only a few weeks remain until this year’s Rare Disease Day, February 28th. The theme for this year is ‘Research’, which is a most welcome topic to the global Raynaud’s and Scleroderma patient. Investment in medical research provides immense hope and some comfort, to the rare disease patient living with a currently, incurable, diagnosis.



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.
A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.

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’



At 43minutes in, I discuss meeting the needs of the rare disease patient. Namely:
  • 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

The Rare Disease Day website states:
        
   '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.
Over 6000 rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.
Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Quintessentially disabling, the patients quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.’

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.
However, as I highlighted in a previous article, The Role of Medical Research, click here,
the landscape for the Raynaud’s and Scleroderma patient in relation to medical research, has never looked so encouraging. This is particularly enhanced by the launch of the Journal of Scleroderma and Related Disorders (JSRD) at the 4th Systemic Sclerosis World Congress, which I wrote about  here

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

Due to the necessary requirement for funds for medical research I have set up the following 
Just Giving Page for Raynaud’s medical research at the Raynaud’s Unit, The Royal Free Hospital, as well as, Scleroderma medical research at the Scleroderma Unit. 

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:



We have to find that cure and better, improved treatments…..Let’s tell the world about the rare disease of scleroderma on Rare Disease Day 2017…. Living the dream, scleroderma style.

An edited version of this article was published in February 2017 for my Column with Scleroderma News here

To read my articles:
  • 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
  • the UK guidelines for management and treatment of Scleroderma click here 
  • my skin is cured from scleroderma click  here
Please DONATE to help fund medical research at the Scleroderma Unit at The Royal Free hospital where 100% of your donation will be used to fund vital medical research. Thank You.



Living the dream, scleroderma style, hoping for a cure

#SclerodermaFreeWorld #RaynaudsFreeWorld
Please use the icons below to share this article #SclerodermaAwareness
April 2017.

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