Rare Disease UK reception at the House of Commons 2.3.16
Weeks of preparation had gone into preparing my body for this Herculean physical exertion of a big day out! And, incidentally, it was 12 years and 1 day since I had qualified as a practising barrister on 1st March 2004!
- Empowering those affected by rare diseases
- Identifying and preventing rare diseases
- Diagnosis and early intervention
- Coordination of care
- The role of research
The immense value of patient voices for rare diseases was recognised by all of the speakers, with the recognition that each patient is an expert in their own diagnosis, and who, have often had to educate the medical professionals they encounter.
This is a huge comfort to me, given that there is currently no cure, and my life has been turned upside down, due to my diagnosis and the debilitating symptoms it brings.
As, delayed diagnosis can have a significant impact on a patient’s health, treatment options and even life expectancy’.
‘Following the onset of symptoms nearly half of all respondents waited over one year to receive a diagnosis and 1 in 4 patients had to wait over five years for a diagnosis.
Rare disease patients wait an average of four years for their diagnosis’.
However, when I first became his patient, he had just qualified as a Consultant in Dame Prof Blacks’ team, 1998!
This continuity of expert care, I believe, is of HUGE importance in the treatment of rare disease patients.
Ben expressed his commitment to the rare disease landscape and affirmed his dedication to improve the current situation, keeping the patient voice at the forefront of his work, and honouring the UK Strategy commitment. Here is a photo of myself with Ben and Dr Larissa Kerecuk, who is the Rare Disease Lead at Birmingham Children’s Hospital and is developing the Rare Disease Centre there. A blessing to her patients.
- the need for an early diagnosis
- where no cure is available, evidence based treatment options ‘to plug in the gaps’, as Drew so aptly describes.
- find out what works and stick with it so that you can try and lead a life similar to a healthy person.
I stopped taking my 2g daily dose of immunosuppressants (mmf) of the previous five years, on the same day I appeared in court as a practising barrister (1.3.2004) – 4months later I was back on my back and forced to make lifestyle choices to address the symptoms as opposed to returning to chemotherapy.
I changed my diet in 2012 and have seen a remarkable improvement in my symptoms by including daily fresh fruit and vegetables juices.
- raising awareness is key to improving the potential for better treatments and ultimately a cure.
- And, as Drew describes, the access to a clinical expert team is paramount for survival and optimum patient safety and care.
An edited version of this article was published here, in my Column with Scleroderma News, March 2016.
To read my articles:
Rare Disease Day 2018, Research - Taking Part in Clinical Trials, Click here
March Autoimmune Disease Awareness Month 2018, Click here
Global patient video, Click here
Becoming a Patient Research Ambassador for the NIHR, Click here
If we only had more RESEARCH investment for Scleroderma, Raynaud's, Autoimmune Rare Disease, Click here
Expert Specialist Centres, Click here
World Scleroderma Day 29th June 2016, Click here
World Scleroderma Day 29th June 2017, Click here
Why Global Collaboration is important to the Rare Disease Patient, Click here
2016 Rare Disease Day Patient Voice
|My 2016 article was featured on the Rare Disease Day |
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Last Update: April 2018
An edited version of this article is published on the Rare Disease UK Website, here