Rare Diseases Day 2011

February 28th, 2011 was rare disease day. Actually, rare disease day is, of course, February 29th, but as it’s not a leap year this year, we held it on the 28th.

Birdshot is a rare disease. People with rare diseases often experience difficulties in getting a diagnosis, getting research undertaken, getting appropriate medication, having our care co-ordinated across disciplines (for us it may include ophthalmology, rheumatology, haematology for our bloods, radiology for DEXA scanning, social care services, low vision services, etc).

This year, we contributed to the development of a Rare Disease Strategy Proposal to try and address these problems. If anyone wants to read the full proposal, it can be accessed at http://www.raredisease.org.uk/documents/RD-UK-Strategy-Report.pdf. You will see, on page 70, that UIG (our parent charity) contributed to the development of this strategy through me (Rea). The proposals were developed by Rare Disease UK, a large charity that has membership of all the charities working with rare diseases, and UIG and BUS are members of Rare Disease UK.

The proposals were presented to Ministers at a Parliamentary reception on 28th February and were well received. I was at the reception. Ministers from both the coalition and the opposition attended and heard a range of speakers talking about their own experiences and how difficult it had been to get a diagnosis and to find their way round the health system to get appropriate treatment and care. Lord Howe, the Parliamentary Under-Secretary of State for Health responded to the proposals, committing himself to working with all the information and suggestions we had given him and continuing to work with Rare Disease UK to finalise the strategy. Also attending were many senior civil servants from the health organisation that deals with rare diseases (AGNSS – Advisory Group for National Specialised Services) – they decide what medications they can buy for rare diseases (even if those medications are not licensed for that particular disease) and they develop policies on rare diseases. I had a chance to speak to them and to ministers to highlight uveitis and Birdshot and our own experiences. Now, even the House of Commons has heard of Birdshot! Quite a coup!

Just to explain why it is so important that we presented this work to ministers: The UK has signed up to a European requirement to implement a strategy for all people with rare diseases by 2013, and the proposals presented by Rare Disease UK will inform the Department of Health who is developing the final strategy.

Once there is a rare disease strategy in place, we should expect to have the same level of care and outcomes as people who have more well known diseases. There are a number of changes being proposed in the NHS. These include giving more power to patients, allowing us greater choice including who we want to be treated by, allowing us to see all our medical information and to keep copies of all information ourselves, and working in partnership with our doctors and consultants – the NHS describes this for patients as being: ‘No decision about me without me’.

More importantly, once the rare disease strategy is in place, we should find that more money is given for research into rare diseases, and we, as patients, should get ‘individualised’ care. That means we should have the services we need fitted around us, rather than be given services that happen to be available.

We will keep you informed of developments.

Below, we highlight some of the findings from Rare Disease UK, which were included in the Strategy proposals we presented to ministers – you may well recognise some of these issues yourselves!

More than half of people living with rare diseases are left to research and manage their conditions by themselves because of a lack of accessible medical expertise in the health service, according to a report released by Rare Disease UK (RDUK).

RDUK’s report, Improving Lives, Optimising Resources, illustrates how patients are too often given insufficient information on their medical, psychological and social needs after being diagnosed. The lack of medical professionals who understand rare conditions results in patients finding unreliable, often frightening information and researching their own treatment and care paths.

Collectively, rare diseases are not rare. A total of 3.5m people in the UK live with a rare condition at some point in their lives – the equivalent to 1 person in 17. Rare diseases are often chronic, progressive, degenerative and often life-threatening.

The report shows the UK lacks the systems and structures to respond to the needs of people affected by rare diseases and sets out recommendations for a national strategy that will ensure the most effective use of NHS resources while immeasurably improving the lives of millions of people.

RDUK’s recommendations cover the diagnosis, care, treatment and research of rare diseases. They bring together existing scarce knowledge and expertise – in the NHS, universities, industry, patient groups and medical research charities – and include:

– A UK online portal for rare disease information, linking to reliable sources and guidelines

– Inclusion of a rare disorders module on the medical curriculum and ongoing training

– Improvement of access to diagnostic tests, including a revision of the newborn screening programme

– Development of rare disease registries

– Personalised care plans for patients with rare conditions


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