The theme for this year’s Rare Disease Day was ‘Research, where all possibilities are limitless’. This is particularly relevant to the rare disease patient, whose daily reality is often governed by their poorly understood medical condition, where treatments are usually targeted at symptom suppression, with little known understanding of the cause and cure. And, of course, to have actually attained a diagnosis is an accomplishment in itself, since on average this takes four years.
In 1997, aged 24, having developed swollen fingers and joints, a specialised blood test confirmed that I had the rare, autoimmune rheumatic disease known as scleroderma (systemic sclerosis) along with the circulatory disease, Raynaud’s syndrome. I was given prognosis of fifteen years by my diagnosing doctor, as there was, and still is, no cure.
I was prescribed a cocktail of chemotherapy and immunosuppressive drugs, which eventually slowed the scleroderma progression. I am now thirteen years free from this regime, and take just one tablet daily to open my blood vessels. I also remain indoors as much as possible, to prevent Raynaud’s attacks.
Taking part in research
Throughout my 20-year Scleroderma patient experience, I have taken part in several clinical trials, all based at the expert Scleroderma Unit at The Royal Free Hospital in London, with Professor Chris Denton being the clinical lead.
It is two years since my last clinical trial experience, where, over the course of six months I had to take ‘mystery tablets’ at set times, communicated to me via an electronic bleeper, which I was unable to turn off!
What to expect from a clinical trial
At the start and end of any clinical trial, all baseline measurements must be taken, so that any difference in results can be seen. This required me to have to travel to the Scleroderma Unit in London. I was able to remain at home in Southport for the trial duration, with the lovely Yvonne, the Clinical Trial Nurse, staying in regular phone contact with me for that time. On this particular trial, I am sure that my ‘mystery tablets’ were the live active ingredient, since I experienced some quite unpleasant side effects, which I noted for the study purposes. I was quite relieved when that trial finished.
My clinical trial experience prior to the ‘mystery tablets’ involved me having to inject myself with a ‘mystery liquid’. Having a rare disease certainly takes you down life paths which you would never have dreamed of going, as well as helping you find your inner strength, which you never knew you had. I have always hated needles, and still do; I cannot even watch the phlebotomist put the needle into my arm at my current bi-monthly blood tests. However, for the best part of eighteen months, I was required to inject myself with a liquid which was stored in a small vial, which I had just removed from the freezer. I had several minutes to warm the vial, so that the frozen ingredient became a liquid, draw the liquid into the needle and then inject myself, twice a week, including Christmas Day. I used my stomach as my injection site, giving myself the reward of cake, to keep my injection site maintained properly. I would also play my favourite music at that time, to get me in to ‘the zone’ for doing what I needed to get on and do.
I have the utmost respect for all patients who have to inject themselves on a daily basis. The ‘mystery liquid’, although my worst nightmare to administer, made me feel a lot better with less pain and muscle rigidity. Sadly, I understand that the results were not promising enough for the pharmaceutical company to consider further investment in this area, which is disappointing to me as a patient, as I did feel a lot better when having the ‘mystery liquid’.
I would urge every rare disease patient to take part in a research trial if the opportunity is offered by a respected research centre.
As a rare disease patient this is a way in which we can help to pioneer the future for fellow rare disease patients. By taking part in a trial there is the opportunity to try newer innovative treatments which may provide most welcome symptom relief.
Nicola was diagnosed in 1997 with systemic sclerosis and Raynaud’s phenomenon. She is an active champion for those affected by rare diseases currently serves as an advisor to EURORDIS and the British Society for Rheumatology. She is also a Patient Public Voice Representative on NHS England’s Clinical Reference Group for Specialised Rheumatology. She is a qualified barrister and blogs at blog.raynaudsscleroderma.co.uk. She can also be found at Pro-VIDE-Law and Scleroderma News.
You can follow Nicola on Twitter.