Raynauds Scleroderma Global Patients: Autoimmune Disease Awareness Month, March 2017. Raynaud’s, Scleroderma, Autoimmune Rare Disease. Nicola Whitehill.

Autoimmune Disease Awareness Month, March 2017.

Raynaud’s, Scleroderma, Autoimmune Rare Disease.

Autoimmune Disease Awareness Month, March 2017.

Raynaud’s, Scleroderma, Autoimmune Rare Disease.

An autoimmune disease is one where the body’s immune response starts to attack itself.

In scleroderma patients this is characterised by increased synthesis of collagen (leading to the sclerosis), damage to small blood vessels, activation of T Lymphocytes and production of altered connective tissues. Source: Wikipedia

Currently the American Autoimmune Related Diseases Association Inc, AARDA, lists there to be over 80 different identified autoimmune diseases.

The most commonly known, include: Multiple Sclerosis, Rheumatoid Arthritis and Diabetes.

All autoimmune diseases are identified by a specific blood test identifying the presence of specific antibodies.

The presence of the anti-scl70 anti-topoisomerase antibody indicates diffuse scleroderma, where as the presence of anti-centromere antibodies indicate the limited systemic form.

Other autoantibodies can be seen, such as anti-U3 or anti-RNA Polymerase which indicates probable kidney involvement.

Other non laboratory tests for a scleroderma diagnosis include skin score and organ function tests, such as ECG, ECHO, lung function tests. Learn more about this, here

To know more about my skin biopsy tests, Click here

Sadly, we know too well, that Scleroderma (Systemic Sclerosis) is classified as a Rare Disease

February 28th was, Rare Disease Day Europe, and, Rare Disease Day US, with this year’s theme being ‘Research’.

I wrote about how this impacts the scleroderma patient and rare disease patient, in general, here

As well as, I wrote about the Scleroderma patients’ unmet clinical needs, here

The British Society for Rheumatology, BSR, states within their report,

‘A collaborative approach to improving outcomes in rare rheumatic and musculoskeletal diseases: report from a National Workshop | 7’:

‘The spectrum of rheumatic and musculoskeletal diseases that are treated by rheumatology teams includes over 200 conditions affecting blood vessels, joints, bones, muscles and connective tissues.

Rare Rheumatic Musculoskeletal Diseases (RMDs) can be categorised into two distinct groups:

Rare autoimmune rheumatic diseases, comprising:

Systemic Vasculitis

(eg. ANCA-associated Vasculitis, Giant Cell Arteritis, Takayasu’s Arteritis, Behçet’s Syndrome)

Autoimmune Connective Tissues Diseases

(eg. Systemic Lupus Erythematosus, Systemic Sclerosis (Scleroderma), Myositis, Sjogren’s Syndrome)

Rare non-autoimmune rheumatic diseases, comprising:

Metabolic, sclerosing and dysplastic bone diseases

(eg. Osteogenesis Imperfecta, Fibrous Dysplasia, Hyperostosis Syndromes, SAPHO syndrome)

Dysplastic diseases of joints and inherited disorders of connective tissue

(eg. Epiphyseal Dysplasias, Ehlers Danlos Syndrome, Marfan Syndrome,

Stickler’s Syndrome).

… Although these are distinct, individual conditions, for the purpose of implementing the UK Rare Disease Strategy, they are best considered under a single ‘umbrella’.

This is because they share a number of common features, including:

- overlapping clinical and serological features;

- similar disease mechanisms, many of which have origin in immune system abnormalities;

- convergent treatment pathways; immunosuppression, B cell depletion or cytokine inhibition;

- impact across multiple (similar) organ systems and hence need the same MDT composition.

All these conditions have significant diagnostic delay, which is likely to affect outcomes, (more organ damage at presentation) and higher treatment costs if organ damage has already occurred e.g. renal replacement therapy.

The multisystem nature of these conditions, often requires simultaneous care across several specialties.

For rare autoimmune conditions this is rheumatology, nephrology, respiratory medicine, ENT and dermatology, and for rare bone diseases, rheumatology and specialised orthopaedics, specialised endocrinology, and clinical genetics.

This can often result in fragmented care, with poor communication and delayed decision- making leading to patients feeling ‘lost’ in the system.

There is therefore a prime opportunity to improve the coordination of care, with multidisciplinary ‘one-stop-shop’ clinics enabling greater cost efficiency and clinical effectiveness than existing systems of uncoordinated care.

In common with other rare diseases, these conditions are also slow to benefit from therapeutic advances; for example there has been only one new licensed drug for Systemic Lupus Erythematosus in the last 50 years, Belimumab, which is the subject of an on-going NICE appraisal which started in 2011.’

I had the pleasure and honour to present the ‘Raynaud’s and Scleroderma patient’s reality’ at the BSR Conference in 2015. Click here, to view my presentation.

I wrote about the BSR published Scleroderma Management Guidelines, published in June 2016, Click here

This year the conference is to be held in Liverpool. For more details, Click here

On behalf of the entire global scleroderma and Rare Disease community, I would like to take this opportunity to offer immense thanks to the trailblazers Prof Chris Denton, and Dr Peter Lanyon, this year’s President, for their dedication and commitment to improving our patient community’s reality, via their work with the BSR. #superhuman

Clearly, there is a large need for improvement in the medical and clinical care of the autoimmune patient, and even more so for the rare disease, autoimmune patient, such as Scleroderma.

I discussed the necessity for expert specialist centres, Click here

as well as, the importance of an early diagnosis, Click here

and, the role of medical research to the scleroderma patient and the rare disease patient in general, Click here

Autoimmune Disease Awareness Month gives us the perfect opportunity to continue raising awareness of Scleroderma, Raynaud’s and other autoimmune related conditions.

I discussed several of the ‘overlap symptoms’ such as Pain, Mobility, and, Fatigue, previously, with these being only a few examples of symptom commonality.

To view my June Scleroderma Awareness Campaign 2016, Click here

Thanks to USA Patient Sharon Esposito for her image

All in all, increased investment in clinical and medical research is desperately needed to improve the day to day reality of the patients who are living on the autoimmune and rare disease diagnostic journey.

To keep up to date with the social media campaign follow

#ADAM #SclerodermaFreeWorld #RaynaudsFreeWorld

Living the dream, scleroderma style

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

To read my articles:

Rare Disease Day 2018, Research - Taking Part in Clinical Trials, Click here

March Autoimmune Disease Awareness Month 2018, Click here

Global patient video, Click here

Becoming a Patient Research Ambassador for the NIHR, 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

Scleroderma Awareness Month 2017 Patient Profiles Campaign, Click here

Scleroderma Awareness Month 2017 Patient Profiles Campaign Patient Index, Click here

The Pandora’s Box of the rare autoimmune disease Scleroderma, Raynaud's and Cancer, Click here

Key Event Dates 2018, Click here

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, Click here

World Scleroderma Day 29^th June 2016, Click here

World Scleroderma Day 29^th June 2017, Click here

Why Global Collaboration is important to the Rare Disease Patient, Click here

RARE DISEASE DAY:

The theme to this years Rare Disease Day is Research

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

2016 Rare Disease Day Patient Voice

2016 Rare Disease UK Parliamentary Reception

2017 Rare Disease Day Flashback

2017 Rare Disease Day unmet clinical needs to the scleroderma patient

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.

I highlighted other areas of medical research interest within Week 3 of my Patient Profiles Campaign for Scleroderma Awareness Month 2017.

VIDEO

INDEX

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:

Early Diagnosis

Expert Specialist Centres

Access to Innovative Medicines

Where MEDICAL RESEARCH investment is VITAL.

Research is the key. Abstracts from 2016 World Congress, Click here

Scleroderma Awareness Month Campaign 2016, Click here

Links

View video, here

Preamble - here

The Family Day at the Scleroderma Unit, The Royal Free Hospital is taking place on the 19^th May 2018. Browse the program, here

This year, I am celebrating 20 years of being a patient at this world leading expert specialist research centre.

Sept 2017

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.

I am truly humbled and inspired by their work ethic. 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 diagnosing doctor, that I was looking at a 15month prognosis.

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.

For latest updates follow: