SclerodermaRF: Rare Disease UK reception at the House of Commons 2.3.16. Rare Disease Day 2016. Scleroderma, Raynaud's, Autoimmune Rare Disease.

Rare Disease UK reception at the House of Commons 2.3.16.

Rare Disease Day 2016.

Scleroderma, Raynaud's, Autoimmune Rare Disease.

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On Wednesday 2^nd March 2016, I had the honour of attending the Rare Disease UK reception for rare diseases at the House of Commons hosted by Liz Kendall MP.

This is the fourth time that Liz has hosted the annual reception for recognising rare disease day, which is scheduled as the last day in February, with the hope that the World Health Organisation will recognise it as the official ‘rare disease day’.

I blogged about this in my last post, as well as ‘why Rare Disease Day is so important to patients’, here.

I arrived at the House of Commons to the thunderous peal of Big Ben alerting London to the fact that, it was midday.

This was quite a poignant moment for me, as anyone who knows me, will know that at this time on a ‘normal’ Wednesday, I am glued in front of my television for the weekly Prime Minister’s Questions, if Parliament is sitting.

And so, it was a huge honour for me, to be away from my sofa and dressing gown, in person, at the House of Commons at this time and day.

Weeks of preparation had gone into preparing my body for this Herculean physical exertion of a big day out! And, incidentally, it was 12 years and 1 day since I had qualified as a practising barrister on 1^st March 2004!

Here is a photo, which the taxi driver kindly snapped, quickly, of my eskimo disguise, arrival – so quick that I had not had chance to put my glove back on, having shown him how to operate the camera!

The reception started promptly at 12.30pm whereby Alastair Kent OBE, Genetic Alliance UK; George Freeman MP, Minister for Life Sciences; Dr Gina Radford, Deputy Chief Medical Officer; Elizabeth Kendall MP; Fiona Marley, NHS England; Ben Howlett MP, all gave insightful, encouraging talks to the 150 attendees, 87 different organisations/ diseases who were represented.

Insightful, by way of the Government’s commitment, along with cross party support, to the implementation of the UK Strategy for Rare Disease and its 51 commitments, which has been set out to be achieved by 2020.

The strategy can be broken down into the following 5 subheadings:

Empowering those affected by rare diseases
Identifying and preventing rare diseases
Diagnosis and early intervention
Coordination of care
The role of research

‘Effective implementation of the Strategy will ensure people living with a rare disease have access to the best evidence-based care and treatment that health and social

care services, working with charities, researchers and industry can provide’

~ Alastair Kent, OBE, Chair of Rare Disease UK.

The theme of this year’s rare disease day was ‘patient voice’.

The immense value of patient voices for rare diseases was recognised by all of the speakers, with the recognition that each patient is an expert in their own diagnosis, and who, have often had to educate the medical professionals they encounter.

In relation to my diagnosis, I am blessed to be a patient of one of the world leaders and trailblazers for Systemic Sclerosis and Raynaud's (Ssc), Professor Denton.

This is a huge comfort to me, given that there is currently no cure, and my life has been turned upside down, due to my diagnosis and the debilitating symptoms it brings.

Liz Kendall stressed the importance for patients to hold the politicians to account with the Government’s commitment to the strategy, and given that my diagnosis no longer allows me to continue as a practising barrister, my dream job, which I studied and worked hard for- I will most certainly be keeping a keen eye on the progress of the strategy!

Fiona Marley from NHS England stressed the importance of an early diagnosis to prevent a potentially damaging and life threatening prognosis and endorsed the UK Strategy for Rare Diseases commitment to ‘work to achieve reduced times for diagnosis of rare diseases.

As, delayed diagnosis can have a significant impact on a patient’s health, treatment options and even life expectancy’.

A recent study, The Rare Reality, undertaken by Rare Disease UK, found that,

‘Following the onset of symptoms nearly half of all respondents waited over one year to receive a diagnosis and 1 in 4 patients had to wait over five years for a diagnosis.

Rare disease patients wait an average of four years for their diagnosis’.

Fiona also went on to mention the advantage of specialised expert centres, with the potential to be applicable as European Reference Networks, as led by Eurordis, where collaborative care would be of huge benefit to rare disease patients.

Again, on a personal level, I feel blessed to be under the care of the specialist centre for Ssc at The Royal Free hospital in London, with Prof Denton as Head.

However, when I first became his patient, he had just qualified as a Consultant in Dame Prof Blacks’ team, 1998!

This continuity of expert care, I believe, is of HUGE importance in the treatment of rare disease patients.

The final speaker of the day was Ben Howlett MP. Ben has recently been elected as the Chair of the APPG (All Party Parliamentary Group) on rare, genetic and undiagnosed conditions.

Ben expressed his commitment to the rare disease landscape and affirmed his dedication to improve the current situation, keeping the patient voice at the forefront of his work, and honouring the UK Strategy commitment. Here is a photo of myself with Ben and Dr Larissa Kerecuk, who is the Rare Disease Lead at Birmingham Children’s Hospital and is developing the Rare Disease Centre there. A blessing to her patients.

During the reception, a certificate of appreciation for ‘Commitment to the rare disease community’ was presented to Lord Walton, who at 93 years of age was an inspiration to us all, with his thank you speech!

If you are a resident of the UK you can invite (email, tweet, facebook message, write) to your local MP inviting them to join the APPG for rare, genetic and undiagnosed conditions and I urge every rare disease patient to do this, as together the patient voice becomes much louder!

The reception was concluded by watching a very moving film clip of a very brave young man called Drew, explaining about living with CVID (Common Variable Immune Deficiency).

This made me think about my reality of having lived with Ssc (scleroderma) and Raynaud's since 1997, aged 24, and although, rare diseases are rare, the commonality which can be seen with all of the 6000-8000 listed rare diseases is plain to see, namely:

the need for an early diagnosis

where no cure is available, evidence based treatment options ‘to plug in the gaps’, as Drew so aptly describes.

find out what works and stick with it so that you can try and lead a life similar to a healthy person.

Currently there is no cure for Ssc or Raynaud's, just treatments which suppress the symptoms and of course, added unpleasant side effects.

I stopped taking my 2g daily dose of immunosuppressants (mmf) of the previous five years, on the same day I appeared in court as a practising barrister (1.3.2004) – 4months later I was back on my back and forced to make lifestyle choices to address the symptoms as opposed to returning to chemotherapy.

I changed my diet in 2012 and have seen a remarkable improvement in my symptoms by including daily fresh fruit and vegetables juices.

raising awareness is key to improving the potential for better treatments and ultimately a cure.

And, as Drew describes, the access to a clinical expert team is paramount for survival and optimum patient safety and care.

I am eternally grateful for the medical expertise of Dame Professor Black and the super human-being Professor Denton, whose commitment to the diagnosis and to his patients is my elixir, to keep on board ‘the rare disease patient-voice fun bus’, in the hope of being a patient voice for improvements across the full rare disease spectrum.

It is with huge thanks to Rare Disease UK for providing the space to make this event happen, which is most definitely one of the highlights of my rare disease patient journey of the last 19 years.

And of course, HUGE thanks and appreciation, for the tireless work and dedication Rare Disease UK shows to the rare disease patient community, providing the next best thing to a cure = HOPE.

An edited version of this article was published here, in my Column with Scleroderma News, March 2016.

This article was published on the Rare Disease Day website and the Rare Disease Day social media platforms. As well as, on the Rare Disease UK website here.

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 Flashback

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.