Living with a rare disease is, quite frankly, a most daunting experience in every way imaginable. The mystery of the biological cause combined with ‘hit and miss’ medication options, due to there being no known cure, makes for hope being a permanent companion to the rare disease patient.
Sadly, the current data shows that most rare disease patients will wait on average four years before receiving a diagnosis. In relation to my diagnosis of scleroderma (systemic sclerosis) and Raynaud’s, this length of time would have most definitely caused irreversible life threatening damage to my body.
No known cure
Scleroderma is a chronic autoimmune disease which affects the connective tissue and vascular systems of the body. Raynaud’s is the constriction of blood vessels throughout the body, most usually at the extremities (hands and feet), causing discoloration and intense pain. Currently, there is no known cause or cure to either scleroderma or Raynaud’s. Treatment options are targeted at symptom suppression. In my situation, I have Raynaud’s secondary to scleroderma. Raynaud’s can also present on its own without any other medical condition. October is Raynaud’s awareness month.
“Most rare disease patients will wait on average four years before receiving a diagnosis”
I consider myself to be a lucky rare disease patient in that I only waited a matter of months for my symptoms of tight puffy skin, swollen joints and blue fingers, to be interpreted into a diagnosis, following a specific blood test. I must admit, I have had much better days than that autumnal day in 1997, aged 24. However, the diagnostic label did provide relief, to finally know what was happening to my body.
Intense immunotherapy and chemotherapy agents were started, with an initial prognosis of fifteen months due to the severity of my symptoms and the aggression of the disease. After a year of taking this toxic pharmaceutical combination with little symptom improvement, I swapped my medical care to the scleroderma expert centre at the Royal Free hospital in London, which was then headed up by Dame Prof Carol Black, now Prof Chris Denton, and to whose medical expertise I am eternally grateful for.
Hit and miss
Two very critical years followed. My symptoms finally stabilised following a further six years of chemotherapy infusions, combined with immunosuppressant agents. I am now delighted to be twelve years chemotherapy free, although my entire lifestyle and quality of life has been totally turned upside down due to my diagnosis.
Medical research provides huge hope to many rare disease patients – the hope being that a doctor or scientist will have the ‘eureka’ moment to identify why the body is doing what it is doing, put a stop to it and press the reset button for a return to wellbeing and the ability to live ‘a normal life’, which is not ruled by medical appointments and symptom demands.
Nicola’s hand during an attack of Raynaud’s phenomenon
Medical research can be painstakingly slow due to various factors. This includes low numbers of rare disease patients eligible to take part, posing a difficulty for sound, scientific, statistically significant conclusions to be drawn. This could be improved for the rare disease patient, by way of expert centres from around the globe collaborating together with their medical research. The European Reference Networks (ERNs) initiative supports this method of collaboration. In my view, global collaboration on medical research is essential to developing the best practice care that rare disease patients deserve.
At this year’s bi-annual World Systemic Sclerosis congress, The Journal of Scleroderma and related Disorders was launched. This is a most welcome advancement for progress to the scleroderma patient, whilst waiting for a much needed improvement in treatment options, and of course a cure.
On a personal level, it is unlikely that the discovery of the cure for scleroderma will be of much assistance to me, since I am now living with the damage which the scleroderma, at its most aggressive and active, caused. However, this does not make me less hungry for wanting to see this disease extinct with a scleroderma-free world becoming a reality.
It must also follow that the newer, more innovative medications and treatments must be made available to the rare disease patient immediately to achieve the rare disease patients’ best outlook and outcome.
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 http://www.cosmicfairy444.blogspot.co.uk and http://raynaudsscleroderma.blogspot.co.uk. She can also be found at Pro-VIDE-Law and Scleroderma News.
You can follow Nicola on Twitter.