Raynauds Scleroderma Global Patients: The Importance of an Early Diagnosis and Medical Research in Scleroderma and Raynaud's

The Importance of an Early Diagnosis and Medical Research.

Scleroderma, Raynaud's, Autoimmune Rare Disease.

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Living with a rare disease, is quite frankly, a most daunting experience in every way imaginable.

The mystery of the biological cause combined with ‘hit and miss’ medication options, due to there being no known cure, makes for 'Hope' being a permanent companion, to the rare disease patient.

Sadly, the current data shows that most rare disease patients will wait on average at least 5 years before receiving a diagnosis. In relation to my diagnosis of Scleroderma (systemic sclerosis) and Raynaud’s, this length of time would have most definitely caused irreversible life threatening damage to my body.

Scleroderma is a chronic autoimmune disease which affects the connective tissue and vascular systems of the body.

Raynaud’s is the constriction of blood vessels throughout the body, most usually at the extremities (hands and feet), causing discoloration and intense pain.

Currently, there is no known cause or cure to either Scleroderma or Raynaud’s.

Treatment options are targeted at symptom suppression. In my situation, I have Raynaud’s secondary to Scleroderma. Raynaud’s can also present on its own without any other medical condition.

October is Raynaud’s awareness month.

I consider myself to be a lucky rare disease patient in that I only waited a matter of months for my symptoms of tight puffy skin, swollen joints and blue fingers, to be interpreted into a diagnosis, following a specific blood test.

I must admit, I have had much better days than that autumnal day in 1997, aged 24.

However, the diagnostic label did provide relief, to finally know what was happening to my body.

Intense immunotherapy and chemotherapy agents were started, with an initial prognosis of 15months due to the severity of my symptoms and the aggression of the disease.

After a year of taking this toxic pharmaceutical combination with little symptom improvement, I swapped my medical care to the Scleroderma Unit expert centre at the Royal Free hospital in London, which was then headed up by Dame Prof Carol Black, now Prof Chris Denton, and to whose medical expertise I am eternally grateful for.

Two ‘very critical’ years followed. My symptoms finally stabalised following a further six years of chemotherapy infusions, combined with immunosuppressant agents.

I am now delighted to be 13 years chemotherapy free, although, my entire lifestyle and quality of life has been totally turned upside down due to my diagnosis.

Read more, Click here

I consider myself to be a 'lucky' scleroderma patient in that I have minimal internal organ damage. My Gastro-intestinal system and musculo-skeletal system have been affected the most.

Read more about my 'tin-man like symptoms', here

Some patients experience irreversible internal organ damage which could be life threatening or the patient may require an organ transplant as a final option. I am extremely grateful that this is not my reality.

Clearly, an early diagnosis is essential to prevent life threatening damage.

To read about the miracle who is Alice from Switzerland who has had a double lung transplant, Click here

Medical research provides huge hope to the rare disease patient.

The hope being that a medic / scientist will have the ‘eureka’ moment to identify why the body is doing what it is doing, put a stop to it and press the reset button for a return to wellbeing and the ability to live ‘a normal life’, which is not ruled by medical appointments and symptom demands. As is, my current reality.

Medical research can be painstakingly slow due to various factors.

This includes low numbers of rare disease patients eligible to take part, posing a difficulty for sound, scientific, statistically significant conclusions to be drawn.

This could be improved for the rare disease patient, by way of expert centers from around the globe collaborating together with their medical research.

The Eurordis European Reference Networks (ERNs) initiative supports this method of collaboration.

In my view, there is a best practice duty owed to the rare disease patient for medical research global collaboration.

To view my post 'Why Global Collaboration is so Important to the Raynaud's Scleroderma patient', Click here

During last year’s bi-annual World Systemic Sclerosis congress, The Journal of Scleroderma and Related Disorders, (JSRD), was launched.

This is a most welcome advancement for progress to the Scleroderma patient, whilst waiting for a much needed improvement in treatment options, and of course a cure.

I wrote about Volume 1 Number 1 and 'the importance of medical research to the Raynaud's Scleroderma patient' here, as well as, 'taking part in a clinical trial', here.

I discussed the contents of Volume 1 Number 2, here

On a personal level, it is unlikely that the discovery of the cure for Scleroderma will be of much assistance to me, since I am now living with the damage which the Scleroderma, when at its most aggressive and active, has caused.

However, this does not make me less hungry for wanting to see this disease designated extinct with a scleroderma-free-world being a reality.

It must also follow that the newer, more innovative medications and treatments must be made available to the rare disease patient immediately, in an attempt to achieve the rare disease patients’ best outlook and outcome.

The importance of Expert Specialist Centers, Click here

To view the BSR and BHPR guidelines for Systemic Sclerosis treatment and management, Click here

An edited version of this article was published here, on the Rare Disease UK website.
October 2016.

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 Medical Research

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