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1 in 17 of us will be affected by a rare disease

February 29, 2012

independent

By Alastair Kent

The major paradox about rare diseases is that collectively rare diseases are not rare. In fact, 3.5 million people in the UK will be affected by a rare disease at some point in their lives – 1 in 17 of us. To put this into perspective, this represents the entire population of Birmingham, Manchester, Edinburgh, Glasgow, Greater Belfast and Cardiff put together. Despite these considerable numbers, in the past rare diseases have largely been overlooked by health policy makers.

A disease is classed as rare when it affects fewer than 5 in 10,000 of the general population. Some rare diseases are relatively well known; cystic fibrosis, motor neurone disease and muscular dystrophy for example. Few people would recognise majority of the 6,000 rare diseases known to exist from alkaptonuria to zygomycosis, however.

In recognition of the need to raise awareness of rare diseases, in 2008 a cluster of European countries instigated Rare Disease Day on what is itself a “rare day” – the 29th February. Today, four years on, Rare Disease Day is an international event marked across the globe, a feat which is testament to the strong desire of patients and their families to raise awareness of these little known and little understood conditions.

The theme for Rare Disease Day 2012 is “Solidarity” with the slogan “rare but strong together”. This reflects that by uniting behind one common message, the voice of people affected by rare diseases is stronger.

Some people are born with a rare disease. Tragically, many children will not make it to adulthood; for others a rare disease will develop later on in life. Each rare disease has very different symptoms and outcomes. Despite the breadth of rare diseases, patients and carers often face similar problems in terms of access to high quality care, support and treatment.

Diagnosis is a major issue for many people affected by rare diseases. Rare Disease UK has found that almost half of patients have to wait over a year for an accurate diagnosis following the onset of symptoms. Of this 20% waited over 5 years and 12% waited over 10 years. Misdiagnoses, often with a more common condition are also a major problem. Almost half of patients are misdiagnosed and nearly a third are misdiagnosed three or more times. Living without a diagnosis is not only distressing for patients and their families, but it also means that they cannot access appropriate care and treatment (where available).

Once patients receive a diagnosis, they often struggle to find trusted sources of information about a condition that they and any of their family and friends have probably never heard of, or anyone that understands the condition to talk to. Patient organisations are often an important source of information and support to patients, however, there are no relevant organisations dealing with the majority of the 6,000 known rare diseases.

Equally, health professionals struggle to get information on how the conditions should be managed and few care pathways are available. 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 the effects of the disease, or what the outcome for the patient will be. Most rare diseases affect multiple systems of the body and there will be many different health professionals involved in the care of a patient. Poor communication and fragmentation of care can lead to patients bouncing around the system, attending a multitude of different appointments, which is frustrating for patients and carers especially if their needs are not being adequately addressed.

There are no effective treatments for most rare diseases and very few can be cured, nevertheless, patients should be entitled to the best supportive care for their condition. When treatments are available there can be difficulties in access and there are often “postcode lotteries” in access to treatment and good quality care.

Providing a high-quality service to patients with rare diseases is possible, however, and there are numerous examples of world-class services in the UK to prove it. Unfortunately these are currently the exceptions as opposed to the norm. In the UK we now have the opportunity to build on these examples of good practice to address the needs of patients affected by rare diseases in a systematic way. Each country in the European Union has committed to developing a plan to improve service provision as well as facilitating much-needed research into rare diseases. Rare Disease UK has been campaigning vigorously to ensure that this commitment is acted upon in the UK. We hope that by coming together today on Rare Disease Day we can reinforce to the governments and health departments in each of the UK’s four home nations the need for a UK plan to make a real and significant difference to lives of people living with rare diseases and their families.

Alastair Kent OBE, Chair of Rare Disease UK

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