Thursday, 27 April 2017

Rare Disease Day 2017 Raynaud's Scleroderma Patient's Unmet Medical Research Needs - Nicola Whitehill

Less than a week remains until Rare Disease Day, February 28th, 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, Click here, 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 RareDiseaseUK which can be sent to your MP.

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, Click  here, 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 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'. more info


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! Read more


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. Read more


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. Read more

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

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

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

Read more about digital ulcers. 

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 – 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 in my Column here

  • the role of medical research click here

  • the importance of expert specialist centres click here

  • diet and nutrition click here

  • taking part in research trials click here

  • the UK guidelines for management and treatment of Scleroderma click here

  • my skin is cured from scleroderma click here

Please DONATE to help fund medical research at the Scleroderma Unit at The Royal Free hospital where 100% of your donation will be used to fund vital medical research. Thank You.

Living the dream, scleroderma style, hoping for a cure
#SclerodermaFreeWorld #RaynaudsFreeWorld
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April 2017

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