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"Working together we can secure the best use of scarce expertise and resources, maximising the health gain for all those with rare conditions" Alastair Kent OBE, Chair of RDUK


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Rare Disorders Without Borders: Rare Disease Day 2013 – 28th February 

This year RDUK marked international Rare Disease Day across the UK with parliamentary receptions in England, Scotland and Wales. We also worked with NIRDP (Northern Ireland Rare Disease Partnership) to hold an all-Ireland conference in Dublin.

Rare Disease Day provides the rare disease community across the world with the opportunity to increase awareness of rare diseases and highlight this public health priority to government and health departments. It is recognised in countries all around the world and this year was held on 28th February (in a leap year it is held on the 29th February e.g. a rare day).  

The theme this year was ‘Rare disorders without borders,’ emphasising the fact that efforts in rare disease research have more chance of succeeding if teams of researchers all over the world work together to understand diseases and find therapies.  

At our Westminster reception RDUK launched a report ‘Rare disease care coordination: delivering value, improving services,’ highlighting the social and economic benefits to patients, families and the NHS of having a dedicated person in place to help coordinate the care of those affected by rare diseases.

Most rare diseases affect multiple parts of the body, which means that a range of different health professionals need to be involved in providing care and treatment. In order for care to be provided as smoothly as possible UK Health Departments have recognised that coordinated care is essential. Despite this, care for people with rare diseases is currently poorly coordinated and there is a lack of information and support for patients and families. We found that only 13% of patients with rare diseases have access to someone to fulfil the care coordinator role. In comparison, 87% of people with cancer are given the name of the clinical nurse specialist (CNS) in charge of their care.

There is a strong case for investment in care coordinator posts. Evidence has shown that having a professional in post who can fulfil the care coordinator role helps to improve quality of care and patients’ experience of care by helping patients receive timely access to the specialist knowledge and care they require; meeting patients’ information needs; providing emotional and practical support to patients and their families; and providing a continuing point of contact. There is strong evidence that care coordinators also represent good value for money for service providers. Their work can lead to significant cost savings, for example by saving consultants’ and GPs’ time; helping to prevent unplanned hospital admissions; and reducing the length of hospital stays.

Earl Howe (the Minister responsible for rare disease) spoke at the Westminster reception and announced that a Rare Disease Stakeholder Forum would be established and this would feed into the National Plan for Rare Diseases. RDUK will be represented at this forum and will keep members updated with developments.

Earl Howe and our Host Liz Kendall MP

In Scotland, over 140 delegates from a range of backgrounds came together in Scottish Parliament Member’s Restaurant to raise awareness of rare diseases and to welcome the launch or RDUK’s ‘Experiences of Rare Diseases: Patients and Families in Scotland’ report. The report outlines the findings of a survey of 144 patients and families, conducted by Rare Disease UK, in October 2012. 

Malcolm Chisholm MSP hosted the event and we heard from Alex Neil MSP, Cabinet Secretary for Health and Wellbeing, who acknowledged that now was the time to give rare diseases a greater focus. We are also grateful to our patient speakers, Lesley Loeliger and Gail Currie. Lesley spoke of her struggle to obtain a correct diagnosis and to access treatment for Paroxysmal Nocturnal Hemoglobinuria PNH. Gail spoke of the lack of coordinated care and how she navigates her way through many different appointments with her nine year old daughter who has neurofibromatosis type 1. We also heard from Shuna Colville who gave an overview of the brand new Anne Rowling Regenerative Neurology Clinic and Alastair Kent introduced the Scottish experiences report and spoke of the work of Rare Disease UK

The event was attended by several MSPs including Maureen Watt MSP, Joe Fitzpatrick MSP, Aileen McLeod MSP, Nannette Milne MSP and Mark McDonald MSP.


Our speakers: Shuna Colville, Alastair Kent RDUK Chair, Gail Currie, Alex Neil MSP, Lesley Loeliger and our host Malcolm Chisholm MSP.

Mark Drakeford AM hosted our reception in the Sendd to launch our report ‘Experiences of Rare Diseases: Patients and Families in Wales’. There was an excellent turnout from Assembly Members from across the political spectrum and those in attendance were able to meet their constituents and find out more about the issues surrounding rare diseases.


Our host Mark Drakeford AM with Alastair Kent

In both our Scottish and Welsh reports we found that the NHS is capable of providing a world class service to families with rare diseases, and many patients are very happy with the support they receive. However, this high quality is not universal and too many families struggle to get a diagnosis. In Wales 29% of patients waited over two years, with an alarming majority of these patients waiting five years or more. Almost half (44%) of respondents in Scotland had to wait over one year for a confirmed diagnosis, of this 7% waited over 10 years and worryingly 4% of patients with rare diseases had to wait over 20 years for an accurate, confirmed diagnosis.

A missed or a misdiagnosis (often multiple times) represents a lost opportunity for the family, and can result in avoidable harms to patients as they lose out on treatments that might help, and undergo tests and procedures that may be of little or no use. For example, 36% of respondents in Wales received incorrect diagnoses with some receiving as many as five or more before receiving a final diagnosis. In Scotland, just under half (49%) of those with a confirmed or probable diagnosis received incorrect diagnoses.


David Melding AM with his constituent  


‘I have a rare disorder and I am crossing borders’ Alan Thomas, Chair of Ataxia South Wales

Once patients have been given a diagnosis, they often struggle to find trusted sources of information or anyone who understands the condition to talk to. Equally, health professionals struggle to get information on how the conditions should be managed. This is aggravated by a lack of scientific knowledge of the disease – often a lack of research means that there will be little understanding about how a disease affects the body, or what the outcome for the patient will be. Only 16% in Scotland and 17% of respondents in Wales felt that sufficient research was being conducted into their condition. There are no effective treatments for most rare diseases and very few conditions can be cured.

However, progress is being made and RDUK is working towards ensuring that a UK wide National Plan for Rare Diseases is developed by the end of 2013, as agreed by all European member states.