On Wednesday 2 March 2016 I had the honour of attending the Rare Disease Day reception event at the House of Commons hosted by Liz Kendall MP and organised by Rare Disease UK. The event started at 12.30pm and I arrived in time to hear Big Ben booming on the hour, twelve times. Being an avid PMQ’s viewer, this was exciting for me to hear, and the fact that I was actually in person at the House of Commons was a miracle because the physical effort for me to get out of my front door for a BIG day out takes weeks of preparation.
I live in the Victorian seaside town of Southport on the North West coast. This, combined with the fact that it takes me three hours to attend to the symptoms caused by my debilitating rare disease before I am ready to leave the house, makes a big day out challenging. I have a diagnosis of systemic sclerosis (SSc, scleroderma) and Raynaud’s.
I am the real life tin man dressed as an Eskimo.
A tin man due to my SSc symptoms and an Eskimo because Raynaud’s causes my blood vessels to narrow at the smallest change in temperature. There is currently no cure for this diagnosis, only disease modifying agents that treat and suppress the symptoms. I spent the first seven years after being diagnosed taking various chemotherapies and immunosuppressants, which eventually stabilised my symptoms to a manageable level. I am delighted to say that I am now 12 years chemo/immunosuppressant free. I do, however, have to take medication for my Raynaud’s symptoms, in addition to making a conscious effort to prevent the Raynaud’s attacks, in other words, house arrest for most of the year!
However, I was delighted to attend the reception, which was packed out with 150 attendees, along with at least 87 other, different, rare diseases being represented.
I am not able to stand for very long so I sat on a seat located at the perimeter of the room. The seat had a breath-taking view overlooking the river Thames and central London.
I very much enjoyed chatting to the other rare disease patients between speakers. The similarity of rare diseases and the management landscape for them are familiar to all rare disease patients. They have three main areas in common: an early diagnosis is essential to prevent potential life threatening and irreversible damage, more research is required to provide an improved understanding of the cause and improved treatments with better access to more modern therapies are needed.
SSc presents in individuals in different ways, however, there is usually a multi disciplinary medical team required for optimum patient care. This is best delivered to rare disease patients through specialised expert centres – I am blessed to be a patient at the SSc clinic at the Royal Free Hospital in London under the care of, one of the world leaders in SSc, Prof Denton. How lucky his patients are that he is here in the UK!
The three very important commonalities I mentioned above are all included in the UK Rare Disease Strategy within its 51 commitments. At the Rare Disease Day reception each speaker encouraged the audience to ‘hold their feet to the fire’ and make sure that the Government fulfils its commitments to rare disease patients.
The recently appointed Chair of the All Party Parliamentary Group (APPG) for rare, genetic and undiagnosed conditions, Ben Howlett MP, encouraged everyone to contact their local MP to invite them to join this APPG, whose priority is to improve how the needs of the rare disease patient / family can be met.
Two weeks have now passed since the event and my tin man body is gradually ending its protest at having had a big day out!
The day was most definitely one of the highlights of my 19 year rare disease patient experience (along with World Scleroderma Day 2015 at the European Parliament in Brussels).
These events are my highlights, as the hope that they provide to a rare disease patient who faces an unknown, bleak outlook, words (even a non practising barrister struggles to find the right ones) cannot convey. Hope, by way of at least somebody / the Government / the NHS listening and trying to improve the unmet needs of the rare disease community.
Huge thanks and eternal gratitude to Rare Disease UK for making the event happen, along with Eurordis, for the global rare disease day campaign, which was most certainly the best year so far in its momentum and global representation.
I very much look forward to the events of the next twelve months, and I hope that not too many feet will have to be burnt, in relation to the commitments in the UK Rare Disease Strategy.
Nicola has kindly adapted this blog from one she wrote for Scleroderma News.
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.