Raynauds Scleroderma Global Patients: Rare Disease Day 2017

Rare Disease Day 2017: Medical Research.

Scleroderma, Raynaud's, Autoimmune Rare Disease.

www.justgiving.com/fundraising/sclerodermaunit-royalfree

#RaynaudsFreeWorld #SclerodermaFreeWorld

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Only a few weeks remain until this year’s Rare Disease Day, February 28^th.

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, from RareConnect on ‘How to start an awareness day for your rare disease’.

View Video, here

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, 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 4^th Systemic Sclerosis World Congress. Read more, 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, out of hibernation, to attend the 5^th 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, USA policies.

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. Read more, here

I was delighted to have had my article 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, and, follow my ‘Raynauds Scleroderma Awareness Global Patients’ Facebook Page.

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.

Please check the corresponding Facebook links out:

Raynaud's Unit Royal Free Hospital

Scleroderma Unit Royal Free Hospital

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.

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

#SclerodermaFreeWorld

#RaynaudsFreeWorld

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

Scleroderma Family Day 2020

25^th Anniversary Meeting

The Atrium, Royal Free Hospital, London, NW3 2QG

Chair: Professor Chris Denton

PROVISIONAL PROGRAMME

09.30 – 10.00 Registration and Coffee

10.00 – 10.20 Welcome Dame Carol Black

Prof Chris Denton & David Abraham

10.20 – 10.40 What is a Biopsy? Dr Kristina Clark

10.40 – 11.05 Dental aspects of Scleroderma Prof Stephen Porter

11.05 – 11.25 Gastrointestinal problems – Dr Fiza Ahmed

shedding new light on old problems

11.25 – 11.50 Pulmonary hypertension and the heart Dr Gerry Coghlan

11.50 – 12.15 Scleroderma cohort studies – Dr Francesco

‘Learning from our patients’ del Galdo

12.15 – 14.15 LUNCH BREAK – see below

14.15 – 14.45 25 years of progress – Prof Chris Denton

from ‘black box’ to ‘positive trials’

14.45 – 15.15 International speaker – Dr Madelon Vonk

Scleroderma Management in Netherlands

15.30 Raffle

Lunchtime Discussions Groups / Demonstrations include:

Clinical Trials Rachel Ochiel and team

National Institute of Health Research Christine Menzies

Drug Information / monitoring Pharmacy

Massage Keith Hunt MBE

Pulmonary Hypertension Education / nursing Sally Reddecliffe/Adele Dawson

Rheumatology Laboratory Research Laboratory Staff

Scleroderma Education / Nursing Louise Parker/ Joseph Cainap

Thermography Dr Kevin Howell

SRUK Ollie Scott

Sjogren’s syndrome British Sjogren’s Society

To Read My Articles:

Gift in My Will, Click here

Planning for the Future, Click here

Rare Disease Day:

Rare Disease Day 2020:

Listen to my interview with John Smeeton, (Silver Fox), from the Royal Free Radio, here

Raise awareness and donate to medical research, order your #SclerodermaFreeWorld #RaynaudsFreeWorld tshirt here

Rare Disease Day 2020: NIHR 'Research gives hope to Rare Disease patients', Click here

Rare Disease Day 2019: Leaving a Legacy Gift, Click here

Rare Disease Day 2019: 11am 97.4RockFM headlines, NO CURE, Click here

Rare Disease Day 2018 – Research, Taking Part in Clinical Trials. Scleroderma, Raynaud's, Autoimmune Rare Disease, Click here

2017 Rare Disease Day unmet clinical needs to the scleroderma patient

2016 Rare Disease Day Patient Voice

2016 Rare Disease UK Parliamentary Reception

Rare Disease Day is a fantastic opportunity for the entire rare disease community to shine a spotlight on their reality, combining as one unified voice. Where, at least one commonality presides –

Medical Research
provides the brightest light,
for the illumination of
the rare disease patients’ plight.

To read about medical research at the scleroderma unit, Click here

Although rare disease patients are few in number, eg. 2.5 million scleroderma patients worldwide, (the World Scleroderma Foundation), the commonalities and golden hallmark for each rare disease patient are the same overall.

For optimum patient care, 3 hallmarks preside:

Early diagnosis

Expert specialist centers

Access to innovative medicines

supported by a medical ‘dream team’

(expert specialist as the clinical lead).

INVESTMENT in MEDICAL RESEARCH is CRUCIAL.

To read my articles:

Celebrating 20 years of being a patient at the Scleroderma Unit, Click here

2019 New Challenges, Click here

NIHR Video: 'My Experience of Clinical Trials', Click here

If we only had more RESEARCH investment for Scleroderma, Raynaud's, Autoimmune Rare Disease, Click here

The Importance of Medical Research and Awareness to the Scleroderma, Raynaud's, Autoimmune Rare Disease patient, Click here

2018 Scleroderma Awareness Raising and Medical Research, Click here

SCLERODERMA:

Importance of an early diagnosis, Click here

Taking Part in Clinical Research Trials, Click here

The Importance of a Multi Disciplinary Medical ‘Dream Team’, Click here

Expert Specialist Centres, Click here

My Skin is Cured from Scleroderma, Click here

UK Guidelines for Managing and Treating Scleroderma, Click here

Fatigue, Click here

Mobility, Click here

Diet and nutrition, Click here

Raynaud's- How to Diagnose, Click here

'All you need to know', 2016 Awareness Video, Click here

Global Patient Profiles 2018 Video, Click here

Unmet Medical Needs, Click here

Calcinosis Video, Click here

The scleroderma tooth fairy, Click here

Skin Cancer and scleroderma, Click here

Sept 2017

Prof Chris Denton and I, Sept 2017

June 2019

This year, 2020, I am celebrating 22 years of being a patient at the Scleroderma Unit, The Royal Free Hospital - a world leading expert specialist, research centre.

Read more, here.

I am eternally grateful to the global scleroderma trail blazers Dame Prof Black and Prof Chris Denton, whose commitment and dedication to unlocking the scleroderma enigma, is nothing other than, superhuman. Along with the Raynaud's world trail blazer, Dr Kevin Howell.

I am truly humbled and inspired by their work ethic and commitment to their patients.

I am wholly appreciative for Prof Denton’s continued medical expertise and support, especially during my barrister qualifying years, 1997 - 2004.

1^st March 2004, I qualified as a self employed practising barrister. Further to having been told in 1997, by my original diagnosing doctor, that I was looking at a 15month prognosis.

Chat Magazine May 2019

I very much hope to utilise my professional skills and qualifications along with my patient experience, to help achieve the #SclerodermaFreeWorld dream, hoping to improve understanding and best practice, in the meantime. Read more, here

World Scleroderma Day 2018, Click here

World Scleroderma Day 2017, 29th June, Click here

World Scleroderma Day 2016, 29th June. Origins of the date, Click here

World Scleroderma Day 2015, 29th June.

James Carver, myself, Prof Chris Denton

I had the pleasure of being a presenter and part of the European co-hort who gave a presentation at the European Parliament, Brussels, in honour of World Scleroderma Day 2015.

I am immensely grateful to James Carver, former MEP, for organizing this event in memory of his late wife Carmen, who sadly passed from Scleroderma.

To view the presentation, Click here

Raynaud's:

October:

Raynaud's, Click here

To view the UK treatment guidelines for Raynaud’s Phenomenon, Click here

To view the EULAR treatment guidelines, Click here

To view Thermograph Video, Click here

To view Thermograph image, Click here

My Raynaud’s reality, Click here

The global Raynaud's trailblazer - Dr Howell and I, Sept 2017

To view Nailfold Capillaroscopy equipment (used to identify possible blood vessel damage), Click here

Invisible Disability Awareness Video, Click here

To read My ‘Invisible Disability’ experience, Click here

50 Shades of Blue, Click here