Raynauds Scleroderma Global Patients: Rare Disease Day 2017. Unmet Medical Research Needs. Raynaud's, Scleroderma, Autoimmune Rare Disease, Nicola Whitehill.

Rare Disease Day 2017: Unmet Medical Research Needs.

Scleroderma, Raynaud's, Autoimmune Rare Disease.

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#RaynaudsFreeWorld #SclerodermaFreeWorld

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Less than a week remains until Rare Disease Day, February 28^th, the theme for which, this year, is research. In this article I discuss some of the many current unmet research needs of the systemic scleroderma and Raynaud’s patient.

Clearly, a cure, combined with understanding to the disease cause, are the ultimate dream.

#SclerodermaFreeWorld #RaynaudsFreeWorld.

In the meantime, there remains a huge medical need for improvement on current medications and treatments, which, are disease modifying agents at best.

Sadly, they are not a true certainty that the patient will respond optimally, since no two patients are alike, presenting with the same set of symptoms.

Here in the UK, we are extremely fortunate to have fantastic trail blazer medics and other scleroderma health professional experts, who, last year published the UK Scleroderma Treatment Guidelines.

In my first article, about Rare Disease Day 2017, I focussed on the current research global landscape along with Government commitments to Rare Disease Strategies, including the UK Strategy and research investment.

If you live in the UK, Click here to download a letter drafted by Rare Disease UK, which can be sent to your MP.

Last year the Journal of Scleroderma and Related Disorders (JSRD) was launched at The Systemic Sclerosis World Congress

Volume 1 Number 3 can be accessed, here

An article of particular interest, highlighting a clinical unmet need is ‘Gastrointestinal manifestations of systemic sclerosis’ discussed by Andrew B. Shreiner, Charles Murray, Christopher Denton, Dinesh Khanna.

The Abstract of which reads:

‘In patients with systemic sclerosis (SSc), gastrointestinal (GI)-tract involvement is almost universal.

Any segment of the GI tract from mouth to anus can be involved, and GI symptoms are a frequent cause of morbidity.

In several cases, GI-tract involvement can progress to the point of malnutrition requiring parenteral nutrition.

GI-tract involvement in SSc contributes to disease-related mortality although mostly as a co-morbdity rather than direct cause of death.’

I highlighted in 'My Skin is Cured from Scleroderma' article, as to, how my gastro-intestinal symptoms remain a challenge to me, which I have eased further to changing my diet. Read more, here

As I stated in my introduction, the unmet clinical needs of the scleroderma patient are plentiful, providing a plethora of avenues for further research and pharmaceutical company interest.

Often, these clinical unmet needs can be overlooked since they are not life threatening where time is a luxury. I wrote about 'The Importance of an Early Diagnosis', here

Systemic Scleroderma affects the entire body, targeting the body’s organs as well as the vascular, musculo-skeletal and connective tissue systems.

Symptoms can often overlap with other autoimmune diseases, such as fatigue, mobility, pain and hair loss.

On Day 18 of Scleroderma Awareness Month Campaign 2016, I focussed on the contracture of the mouth, as well as the dental issues which systemic scleroderma can cause, in addition to sclerodactyl hands- where the fingers shorten and curl in on themselves.

US patient Karen Baker has undergone two surgeries on her right hand. The first of which was to add bone from her wrist to reconstruct her fingers.

The second surgery was to add 'artificial' knuckles.

Karen says, ‘My hand's will never be perfect but I can use my right hand now. I now have much better blood flow to this hand and no more ulcers'. Read more, here

Calcinosis

Although calcinosis is not a direct life threatening symptom when comparing to severe internal organ involvement such as heart failure or renal crisis, it is a huge unmet, painful, need of the scleroderma patient.

Currently, there are no adequate treatments or medications for calcinosis.

Some patients report a marginal improvement when taking the antibiotic Minocycline, but personally, I saw no improvement.

I have also spoken with patients who had undergone surgery for calcium removal, with the calcium only returning in time. I am not brave enough for this option being a reality for me!

TELANGIECTASIA

Telangiectasia, although not life threatening as such, can be extremely distressing to the patient due to the change in appearance of the skin.

My face has taken on its own dot to dot puzzle, which has emerged over the course of the last ten years.

I also have telangiectasia covering my trunk and the palm of my hands.

BONES, JOINTS, MUSCLES

Most scleroderma patients will experience symptoms relating to their musculoskeletal system, including their bones, and in some cases this can lead to osteoporosis.

All of my joints are swollen, stiff, and painful.

This includes my toes, feet, ankles, knees, hips, elbows, shoulder, neck, wrists, and hands.

These symptoms are an overlap with rheumatoid arthritis.

SKIN DISCOLORATION

Some patients experience hypopigmentation (vitiligo), whereby skin patches can appear with the skin losing its natural coloring pigmentation.

CELLULITIS

Scleroderma can also affect and alter the soft tissue in the body, with symptoms such as cellulitis, being an added extra, painful complication.

DIGITAL ULCERS

Prevention is most certainly the way to manage these excruciatingly painful wounds.

Read more about digital ulcers, here, and DAY 24.

By no way is this an exhaustive list of unmet clinical needs.

I hope to have included the most frequently seen non-critical life threatening symptoms, but as I constantly emphasise,

no two scleroderma patients present with the exact same set of symptoms

This is a further demonstration of the desperate need and requirement for investment in clinical research.

Wishing you all a blessed Rare Disease Day, feeling good, living the dream, scleroderma style.

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 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