SclerodermaRF: Initial Diagnosis – Autumn 1997. Scleroderma, Raynaud's, Autoimmune Rare Disease. Nicola Whitehill.

Initial Diagnosis – Autumn 1997

Scleroderma, Raynaud's, Autoimmune Rare Disease.

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Initial Diagnosis – Autumn 1997

The month of September always prompts a trip down the memory lane / abyss of September 1997, for me. For, it was at this time, aged 24, when I first heard those three words – ‘You have scleroderma’.

Resulting in my life being turned upside down, forcing me to abandon most of my dreams, and to be grateful for defying the medical statistics and long term outlook for most scleroderma patients.

During the summer of 1997, I had started to feel very tired all of the time.

This was quite out of character for me as I had an insatiable zest for life.

Not only was I working as a medical representative for Bristol Myers Squibb, I was studying on a part time, distance learning basis for a postgraduate diploma in law, which would then lead me to pursue my childhood personal desire to be a barrister and professional advocate.

By early September 1997, my hands had become swollen and puffy with shiny tight skin across my fingers.

I had difficulty moving my fingers as they were stiff, as well as, I was having difficulty in gripping and making a full fist.

I also found it difficult to open my mouth wide and to swallow.

I wrote more about my initial symptoms on Day 4 of my June Scleroderma Awareness Campaign 2016

As the summer season in 1997 started to change into autumn, not only did I feel exhausted, but I also noticed that I was starting to actually feel the cold.

This was a totally new experience for me, as even in the winter, I would seldom be wearing thermal clothing, previously. I thought that the ‘thermal vest’ was something to look forward to, for when you reached late middle age!

It was during Autumn 1997 that my internal thermometer ‘tripped out’ and it still remains very demanding.

It took a few more months before the color changes would become visible in my fingers, presenting classic Raynaud’s symptoms, causing me to have to wear several layers even in the summer, which are then ‘bulked up’ in the winter. I wrote more about this, here

Having observed the change in my hands, combined with the tiredness and swallowing difficulties, I booked an appointment to see my GP medical doctor.

At the first consultation, the stiff puffy fingers were thought to be a form of arthritis, however, the blood test for arthritis returned a negative result. Which was a huge relief at the time, although, I knew that something was not right.

I was then required to give another blood test which was used for a specific autoantibody test, and bingo, this test returned a positive RNA Polymerase result, confirming a diffuse systemic sclerosis diagnosis.

The EULAR /ACR classification code is the current criteria used for confirming a scleroderma diagnosis. DAY 6

I was then referred to my local hospital Consultant medical doctor in Rheumatology, who advised me that I was looking at a 15month prognosis and to give up on my idea of being a barrister.

I felt as though my whole world had ended and that the rug had been pulled out from under my feet.

There was no way that I was giving up on my law studies, I had already paid a fortune in tuition fees, afterall!

After the blood tests, I was then required to take many different diagnostic tests to assess the level of internal damage, if any. See DAY 5

By February 1998, my scleroderma disease was so aggressive with my skin involvement, that I was unable to stretch my arms or legs, and it was itchy, swollen and painful.

I returned to the hospital and commenced all of the different immunosuppressants and disease modifying agents available, with little improvement on the disease, but horrendous side effects and continual nausea.

In December 1998 I went to see Dame Prof Black at The Royal Free Hospital in London.

Within 30 seconds of being in the consultation appointment, I knew that Dame Prof Black would do everything she could to help me, especially with me achieving my dream of being a barrister.

15months of intense chemo drips (cyclophosphamide) combined with mycophenolate mofetil stabalised my symptoms, stopping the scleroderma in its tracks, thankfully. Otherwise, I was scheduled to be having a stem cell transplant, as my name was on the waiting list.

By now, Prof Chris Denton had returned from his scleroderma studies in the US and I had the pleasure of becoming his patient. My local Consultant medical doctor, (the diagnosing doctor), would not entertain ‘shared care’.

At the end of 2004 I returned to my family home town of Southport, and I am delighted that my local Consultant medical doctor here, Dr Hannah Sykes, is extremely supportive and co-operative with me having shared care with the expertise of the scleroderma unit at The Royal Free Hospital and Prof Denton’s medical expertise.

This co-operation from the medics most certainly makes for an improved patient experience, especially given that medical appointments / tests and the like, become the long term scleroderma patient’s full time job due to the multi disciplinary care required.

I wrote about the importance of expert specialist centres, here

I wrote about the long term scleroderma patient’s annual check up, here

As well as, I wrote about the Olympian effort and attitude needed to become a Scleroderma Olympian, here

To view the UK treatment and management of scleroderma guidelines, Click here

I know that I am a very lucky scleroderma patient by way of minimal internal organ damage, even though I have had my life and body hijacked by scleroderma.

This has made me be dedicated to using the remainder of my life to improve the scleroderma, Raynaud's, Autoimmune Rare Disease patient experience. Read more, here

I take huge inspiration from the scleroderma global trail blazer and pioneer, Prof Denton, who I am eternally grateful to, for his medical expertise and helping me realise my dream of qualifying as a self employed barrister on 1^st March 2004.

Although I am no longer physically able to continue with my 60 hour per week role, I have transferred my professional skills to the global scleroderma landscape- being a voice at all levels, including decision making body levels such as NHS England, the British Society for Rheumatology, RareDiseaseUK the European Rare Diseases Organisation and The European Medicines Agency, and my column at Scleroderma News.

I am also delighted to have joined the ProVIDE Law team in Liverpool, with my first article focussing on 'patient best care/practice and clinical litigation'.

Clearly these roles are secondary to the priority of me attending to, and respecting my symptoms, as, I want to feel good.

I very much hope to develop this platform further, for advancing the scleroderma and rare disease patient plight, thereby improving the 4 main hallmarks of the rare disease patient:

- early diagnosis

- expert specialist centres

- commitment to research investment

- access to innovative medicines

Scleroderma has made me have to tweak my original dreams, however, I feel truly honoured to be using my background qualifications and skills to being a scleroderma, Raynaud’s and rare disease patient on the global stage, as well as raising awareness and funds for the Scleroderma Unit at The Royal Free Hospital.

I have a new dream now :

a SclerodermaFreeWorld and RaynaudsFreeWorld,

imagine that.

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

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.